GOLGA8K

UniProt ID: D6RF30
Organism: Homo sapiens
Review Status: COMPLETE
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Gene Description

GOLGA8K (Golgin subfamily A member 8K) is a poorly characterized member of the GOLGA8/CASP-related golgin subfamily. Like other golgins, it contains extensive coiled-coil domains that are predicted to form elongated structures projecting from the Golgi membrane. Based on conserved domain architecture and phylogenetic inference from characterized golgin family members, GOLGA8K is predicted to localize to the cis-Golgi compartment where it likely functions as a vesicle tether or scaffold involved in Golgi organization. The gene resides within the 15q11-q13 region, where GOLGA8 core duplicons are known to mediate recurrent chromosomal rearrangements associated with Prader-Willi and Angelman syndromes. Direct experimental characterization of GOLGA8K specifically is lacking; all functional inferences derive from domain conservation and family-level evidence.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0000137 Golgi cis cisterna
IBA
GO_REF:0000033 		ACCEPT
Summary: IBA annotation for cis-Golgi localization inferred from phylogenetic analysis using PANTHER. Supporting evidence from orthologs includes FB:FBgn0034697 (Drosophila), RGD:620282 (rat), and UniProtKB:Q08379 (human golgin-84/CASP). Golgin-84/CASP (Q08379) is a well-characterized cis-Golgi tether that interacts with other golgins during intra-Golgi trafficking. The annotation is consistent with GOLGA8K domain architecture containing GOLGA domains (IPR024858, IPR043937) and the conserved coiled-coil structure typical of Golgi-localized golgins.
Reason: The IBA annotation is well-supported by phylogenetic inference. GOLGA8K shares conserved domain architecture with characterized cis-Golgi golgins including golgin-84/CASP. Deep research confirms that golgins occupy the cytoplasmic face of the Golgi and function as tethers/scaffolds, with cis-Golgi localization being consistent with the GOLGA8/CASP subfamily. The coiled-coil regions and GOLGA domains in GOLGA8K strongly support Golgi cisterna localization.
Supporting Evidence:
GO_REF:0000033
Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, UniProtKB:Q08379
GO:0005801 cis-Golgi network
IBA
GO_REF:0000033 		ACCEPT
Summary: IBA annotation for cis-Golgi network localization based on phylogenetic inference. The annotation derives from orthologs including MGI:MGI:2139395 (mouse), RGD:620282 (rat), and UniProtKB:Q08379 (human golgin-84/CASP). The cis-Golgi network is the entry point for ER-derived vesicles, and golgins in this region function as vesicle tethers. Deep research indicates golgins "occupy the cytoplasmic face of the Golgi, functioning as tethers/scaffolds in ER-to-Golgi and intra-Golgi trafficking."
Reason: The cis-Golgi network annotation is phylogenetically well-supported and consistent with the GOLGA8/CASP subfamily function. Family-level evidence demonstrates that golgins with GOLGA domains localize to cis-Golgi compartments where they participate in vesicle capture. This annotation complements the Golgi cis cisterna annotation and represents an appropriate level of specificity for a golgin family member.
Supporting Evidence:
GO_REF:0000033
Phylogenetic inference from orthologs MGI:MGI:2139395, RGD:620282, UniProtKB:Q08379
GO:0007030 Golgi organization
IBA
GO_REF:0000033 		ACCEPT
Summary: IBA annotation for biological process involvement in Golgi organization. Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, and UniProtKB:Q08379. Golgins are established as major structural components of the Golgi matrix. Deep research notes that golgins are "Golgi-matrix tethers that project into the cytoplasm and mediate vesicle capture, Golgi structural integrity, and trafficking." Super-resolution studies describe organized arrangements of golgins at the Golgi rim contributing to architecture.
Reason: The annotation to Golgi organization is strongly supported by family-level evidence. Golgins are well-established as structural scaffolds that maintain Golgi integrity. The coiled-coil architecture of GOLGA8K is consistent with the extended tether function that golgins use to organize Golgi structure. This represents a core function for golgin family members and is appropriate for GOLGA8K based on phylogenetic conservation.
Supporting Evidence:
GO_REF:0000033
Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, UniProtKB:Q08379
GO:0032580 Golgi cisterna membrane
IBA
GO_REF:0000033 		ACCEPT
Summary: IBA annotation for Golgi cisterna membrane localization from phylogenetic analysis with PANTHER:PTN000094136 and orthologs including RGD:620282. Golgins are known to be membrane-associated through their C-termini while projecting coiled-coil domains into the cytoplasm. Deep research confirms that golgins are "C-terminus anchored to Golgi membrane or via adaptors" with "long cytosolic extensions projecting from Golgi surface."
Reason: The Golgi cisterna membrane annotation is consistent with golgin biology. GOLGA8K contains the GOLGA_C domain (IPR043937) which is associated with C-terminal membrane anchoring in golgins. The annotation appropriately captures the membrane-associated nature of golgins while the other cellular component annotations capture the specific sub-Golgi localization.
Supporting Evidence:
GO_REF:0000033
Phylogenetic inference from PANTHER:PTN000094136, RGD:620282
GO:0005794 Golgi apparatus
IEA
GO_REF:0000002 		ACCEPT
Summary: IEA annotation from InterPro domain mapping (InterPro:IPR024858 GOLGA, InterPro:IPR043937 GOLGA_C). These domains are characteristic of golgins, which by definition localize to the Golgi apparatus. The annotation is broader than the IBA annotations for cis-Golgi network and Golgi cis cisterna, which provide more specific localization.
Reason: The Golgi apparatus annotation is accurate based on the presence of GOLGA-family domains. While it is less specific than the IBA annotations for cis-Golgi localization, it is not incorrect. IEA annotations from InterPro mappings are generally reliable for cellular component when based on well-characterized domain families. The GOLGA domains have strong predictive value for Golgi localization.
Supporting Evidence:
GO_REF:0000002
InterPro domain mapping from IPR024858 (GOLGA) and IPR043937 (GOLGA_C)
GO:0005801 cis-Golgi network
IEA
GO_REF:0000002 		ACCEPT
Summary: IEA annotation for cis-Golgi network from InterPro domain mapping (InterPro:IPR043937 GOLGA_C). This is the same term as the IBA annotation above, but derived through a different evidence pathway (InterPro domain mapping vs phylogenetic inference). The GOLGA_C domain is associated with cis-Golgi localization in golgin family members.
Reason: This annotation is a duplicate of the IBA annotation for the same GO term (GO:0005801) but with different evidence. Both IEA (from domain mapping) and IBA (from phylogeny) support cis-Golgi network localization. The redundancy is acceptable in GO as different evidence types can independently support the same annotation. The InterPro-based inference is consistent with the phylogenetic inference.
Supporting Evidence:
GO_REF:0000002
InterPro domain mapping from IPR043937 (GOLGA_C)

Core Functions

Based on phylogenetic inference and conserved golgin domain architecture, GOLGA8K is predicted to function as a coiled-coil tether/scaffold at the cis-Golgi network. Golgins typically function through protein-protein interactions to tether vesicles. Direct experimental evidence for GOLGA8K-specific molecular function is lacking.

Molecular Function:
protein binding
Directly Involved In:
Golgi organization
Cellular Locations:
cis-Golgi network
Supporting Evidence:
  • file:human/GOLGA8K/GOLGA8K-deep-research-falcon.md
    Family-level role: long coiled-coil tethers/scaffolds that capture vesicles (t-tethers and v-tethers described for golgins); interactions reported between golgin84/CASP and intra-Golgi tethering machinery.

References

GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
  • GOLGA8K contains InterPro domains IPR024858 (GOLGA) and IPR043937 (GOLGA_C) which map to Golgi localization
GO_REF:0000033
Annotation inferences using phylogenetic trees
  • Phylogenetic inference from PANTHER family PTN000094136 supports cis-Golgi localization and Golgi organization function
  • Orthologs include characterized golgins such as UniProtKB:Q08379 (golgin-84/CASP)

Suggested Questions for Experts

Q: Does GOLGA8K have functional redundancy with other GOLGA8 family paralogs, or does it have a distinct role in Golgi organization? The GOLGA8 family has expanded through segmental duplications in the human genome.

Q: What is the expression pattern and tissue-specific function of GOLGA8K, given its reported enrichment in testis (per HPA data)?

Suggested Experiments

Experiment: Immunofluorescence microscopy with GOLGA8K-specific antibodies to confirm sub-Golgi localization and compare to other golgin family members.

Experiment: CRISPR knockout or knockdown of GOLGA8K to assess effects on Golgi morphology and secretory pathway function.

Experiment: Proximity labeling (BioID/APEX) to identify GOLGA8K-interacting proteins and determine its position in the golgin interaction network.

Deep Research

Falcon

(GOLGA8K-deep-research-falcon.md)
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate. Falcon Edison Scientific Literature 28 citations 2026-02-08T20:34:17.196983

The research report should be a detailed narrative explaining the function, biological processes, and localization of the gene product. Citations should be given for all claims.

You should prioritize authoritative reviews and primary scientific literature when conducting research. You can supplement
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate.

We are specifically interested in the primary function of the gene - for enzymes, what reaction is catalyzed, and what is the substrate specificity? For transporters, what is the substrate? For structural proteins or adapters, what is the broader structural role? For signaling molecules, what is the role in the pathway.

We are interested in where in or outside the cell the gene product carries out its function.

We are also interested in the signaling or biochemical pathways in which the gene functions. We are less interested in broad pleiotropic effects, except where these elucidate the precise role.

Include evidence where possible. We are interested in both experimental evidence as well as inference from structure, evolution, or bioinformatic analysis. Precise studies should be prioritized over high-throughput, where available.

Research plan status: All objectives completed. We verified identity and compiled recent evidence. Because gene symbols are often ambiguous, we explicitly anchored all statements to the human GOLGA8K entry provided by UniProt (D6RF30) and then used family- and paralog-level evidence with caution. Where GOLGA8K-specific primary experiments were lacking, we state inference explicitly.

Executive summary
GOLGA8K (UniProt D6RF30) encodes a human golgin of the GOLGA8 subfamily (historically related to CASP paralogs). Golgins are elongated coiled-coil, Golgi-matrix tethers that project into the cytoplasm and mediate vesicle capture, Golgi structural integrity, and trafficking. Recent work refines family-level organization at the Golgi rim, and genomics studies highlight the central role of GOLGA8 core duplicons in recurrent rearrangements at 15q11–q13 that underlie Prader–Willi/Angelman syndromes (PWS/AS). CRISPR targeting of GOLGA8 repeats has been used to engineer isogenic human stem-cell models bearing megabase-scale 15q deletions. Direct, protein-specific functional studies for the GOLGA8K isoform remain limited; thus, functional annotation draws from conserved domains and paralog/family evidence. (kuodyte2023thegolgicomplex pages 30-35, sumya2023acutecogcomplex pages 14-16, mendes2024exploringliquidliquidphase pages 1-5, paparella2023structuralvariationevolution pages 10-11, gilmore2024generationofisogenic pages 1-3)

Aspect Evidence/Details Primary recent sources (year, URL) Citation IDs
Identity & nomenclature Human GOLGA8K (UniProt D6RF30) is annotated as Golgin subfamily A member 8K; member of GOLGA8 (CASP/GOLGA8) paralog family and classified as a golgin/Golgi matrix protein. Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027; Paparella et al., IJMS 2023 — https://doi.org/10.3390/ijms242115818; Gilmore et al., bioRxiv 2024 — https://doi.org/10.1101/2023.08.30.555563 (mendes2024exploringliquidliquidphase pages 1-5, paparella2023structuralvariationevolution pages 1-2, gilmore2024generationofisogenic pages 3-6)
Conserved domains/features Predominantly extended coiled-coil architecture with C-terminal membrane-anchoring/partner-binding motifs; intrinsic disorder and potential LLPS propensity inferred from family analyses. Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027; Kuodytė 2023 — https://doi.org/10.11588/heidok.00033278 (mendes2024exploringliquidliquidphase pages 1-5, kuodyte2023thegolgicomplex pages 30-35)
Predicted/observed localization Golgi-associated (Golgi matrix/rim), C‑terminus anchored to Golgi membrane or via adaptors; long cytosolic extensions projecting from Golgi surface. Kuodytė 2023 — https://doi.org/10.11588/heidok.00033278; Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027 (kuodyte2023thegolgicomplex pages 30-35, mendes2024exploringliquidliquidphase pages 1-5)
Molecular role Family-level role: long coiled-coil tethers/scaffolds that capture vesicles (t‑tethers and v‑tethers described for golgins); interactions reported between golgin84/CASP and intra‑Golgi tethering machinery. Sumya et al., Traffic 2023 — https://doi.org/10.1111/tra.12876; Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027 (sumya2023acutecogcomplex pages 14-16, mendes2024exploringliquidliquidphase pages 1-5)
Pathways/processes Inferred involvement in ER→Golgi and intra‑Golgi trafficking and Golgi structural maintenance; golgins coordinate vesicle tethering and recycling (COG‑dependent processes). Sumya et al., Traffic 2023 — https://doi.org/10.1111/tra.12876; Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027 (sumya2023acutecogcomplex pages 14-16, mendes2024exploringliquidliquidphase pages 1-5)
Structural organization (family context) Golgins can form ordered assemblies at the Golgi rim (reported tetraplex layering and filamentous bands in high-resolution studies), consistent with long coiled-coil oligomers. Su et al., bioRxiv 2025 — https://doi.org/10.1101/2025.03.27.645134; Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027 (su2025thegolgirim pages 1-3, mendes2024exploringliquidliquidphase pages 1-5)
Genomic context & clinical relevance GOLGA8 core duplicons at 15q11–q13 form directly oriented, high‑identity SDs that drive NAHR-mediated recurrent rearrangements (PWS/AS locus); human-specific SD expansions increase instability; deletions account for ~70% of AS/PWS genetic cases and locus incidence ~1/15,000–1/30,000 live births. Paparella et al., IJMS 2023 — https://doi.org/10.3390/ijms242115818; Gilmore et al., bioRxiv 2024 — https://doi.org/10.1101/2023.08.30.555563 (paparella2023structuralvariationevolution pages 10-11, gilmore2024generationofisogenic pages 1-3)
Experimental / real‑world applications CRISPR/Cas9 using a GOLGA8‑targeting gRNA has been used to engineer megabase‑scale 15q11–q13 deletions in H9 hESCs (screened ~126 clones; recovered multi‑Mb deletions), demonstrating practical use of GOLGA8 repeats for modeling PWS/AS. Gilmore et al., bioRxiv 2024 — https://doi.org/10.1101/2023.08.30.555563 (gilmore2024generationofisogenic pages 3-6)
Evidence limitations Direct, protein‑specific experimental data for the UniProt D6RF30/GOLGA8K entry are scarce; most functional/structural assertions are inferred from GOLGA8 paralogs and broader golgin family studies. Mendes LFS et al., bioRxiv 2024 — https://doi.org/10.1101/2023.07.21.550027; Kuodytė 2023 — https://doi.org/10.11588/heidok.00033278 (mendes2024exploringliquidliquidphase pages 1-5, kuodyte2023thegolgicomplex pages 30-35)

Table: Compact evidence table summarizing family‑level functional annotations, genomic context, experimental uses, and limitations for human GOLGA8K (UniProt D6RF30), with key 2023–2024 sources and context IDs for traceability.

1) Key concepts and definitions with current understanding
- Identity and family: GOLGA8K (human; UniProt D6RF30) is annotated as Golgin subfamily A member 8K, within the GOLGA8/CASP-related golgin subfamily, part of the broader Golgi matrix “golgin” family of long coiled-coil tethers. Golgins typically anchor via their C-terminus to Golgi membranes and extend 100–600 nm into the cytoplasm to capture vesicles; they are major structural components of the Golgi matrix. (kuodyte2023thegolgicomplex pages 30-35, mendes2024exploringliquidliquidphase pages 1-5)
- Conserved domains: Family-level analyses show predominant coiled-coil architecture, C-terminal membrane-anchoring or adaptor-binding motifs, and frequent intrinsic disorder with potential liquid–liquid phase separation (LLPS) propensity among Golgi matrix proteins (GMPs), including CASP/GOLGA8 family members. (mendes2024exploringliquidliquidphase pages 1-5, mendes2024exploringliquidliquidphase pages 5-8)
- Localization and role: Golgins occupy the cytoplasmic face of the Golgi, functioning as tethers/scaffolds in ER-to-Golgi and intra-Golgi trafficking. Some golgins operate as t-tethers at the Golgi, others as v-tethers on vesicles; interactions among tethers (e.g., golgin-84 with CASP; giantin with p115) aid vesicle capture and fusion. (sumya2023acutecogcomplex pages 14-16)
- Higher-order organization: Super-resolution studies describe a layered (“tetraplex”) arrangement of rim golgins and their capacity to self-assemble into long filamentous bands that may contribute to Golgi rim architecture, consistent with coiled-coil oligomerization. (Note: preprint family-level finding.) (su2025thegolgirim pages 1-3)

2) Recent developments and latest research (prioritizing 2023–2024)
- Golgin functions and vesicle recycling: Acute inactivation of the COG tethering complex in human cells causes accumulation of distinct intra-Golgi vesicles and relocalization of specific golgins (giantin, golgin-84, TMF1) into vesicles, supporting roles as v- versus t-tethers and highlighting golgin participation in COG-dependent glycosylation machinery recycling. (Dec 2023; Traffic; https://doi.org/10.1111/tra.12876) (sumya2023acutecogcomplex pages 14-16)
- LLPS in Golgi matrix proteins: Bioinformatic and experimental evidence suggests many golgins/GRASPs display disorder and LLPS tendencies, offering a framework for condensate-based Golgi organization (preprint, Mar 2024; bioRxiv; https://doi.org/10.1101/2023.07.21.550027). (mendes2024exploringliquidliquidphase pages 1-5, mendes2024exploringliquidliquidphase pages 5-8)
- 15q11–q13 structural genomics: Comparative genomics indicates human-specific expansion of directly oriented, high-identity segmental duplications (SDs) flanking GOLGA (GOLGA8) and HERC cores at 15q11–q13, predisposing to recurrent NAHR-mediated PWS/AS deletions/duplications (Oct 2023; IJMS; https://doi.org/10.3390/ijms242115818). (paparella2023structuralvariationevolution pages 10-11, paparella2023structuralvariationevolution pages 1-2, paparella2023structuralvariationevolution pages 7-8)
- CRISPR engineering via GOLGA8 repeats: A 2024 study used a single GOLGA8-targeted gRNA in H9 hESCs to create megabase-scale 15q deletions modeling AS/PWS; 126 clones were screened and multiple multi-Mb deletions recovered, verified by copy-number and methylation analyses (Aug 2024; bioRxiv; https://doi.org/10.1101/2023.08.30.555563). (gilmore2024generationofisogenic pages 3-6, gilmore2024generationofisogenic pages 14-16, gilmore2024generationofisogenic pages 1-3)

3) Current applications and real-world implementations
- Disease modeling: GOLGA8 core duplicons serve as CRISPR targets to engineer isogenic stem-cell models of PWS/AS with precise megabase deletions, enabling allele-specific regulatory studies and potential therapeutic testing. (gilmore2024generationofisogenic pages 3-6, gilmore2024generationofisogenic pages 1-3)
- Mechanistic inference for GOLGA8K: In the absence of direct GOLGA8K studies, coiled-coil golgin properties, Golgi localization, and roles in tethering/vesicle capture can be cautiously assigned by homology to the GOLGA8/CASP subfamily. (kuodyte2023thegolgicomplex pages 30-35, sumya2023acutecogcomplex pages 14-16, mendes2024exploringliquidliquidphase pages 1-5)

4) Expert opinions and analysis from authoritative sources
- Golgin conceptual framework: Reviews and primary work converge on golgins as coiled-coil, C-terminally anchored, long-range tethers orchestrating ER–Golgi and intra-Golgi traffic and maintaining Golgi architecture; the COG complex coordinates recycling of glycosylation machinery with specific golgins acting as t- or v-tethers. (kuodyte2023thegolgicomplex pages 30-35, sumya2023acutecogcomplex pages 14-16)
- 15q11–q13 instability drivers: Comparative genomics identifies GOLGA8 core duplicons and adjacent HERC repeats as central elements whose directly oriented, high-identity SDs foster NAHR; inversion polymorphisms and repeat content modulate susceptibility but are not strictly required for rearrangements. (paparella2023structuralvariationevolution pages 10-11, paparella2023structuralvariationevolution pages 7-8)

5) Relevant statistics and data from recent studies
- PWS/AS incidence and deletion proportion: Incidence ~1/15,000–1/30,000 live births; recurrent megabase deletions constitute the most common genetic subtype (~70% of cases). (Aug 2024; bioRxiv; https://doi.org/10.1101/2023.08.30.555563) (gilmore2024generationofisogenic pages 1-3)
- 15q11–q13 architecture: Four pairs of directly oriented duplication blocks flanking the critical region, expanded ~16-fold in humans relative to macaque; high sequence identity (≈98–99%) promotes NAHR. (Oct 2023; IJMS; https://doi.org/10.3390/ijms242115818) (paparella2023structuralvariationevolution pages 10-11)
- CRISPR engineering metrics: One GOLGA8-targeted gRNA nucleofected into H9 hESCs; 126 clones screened across four transfections; multiple deletions recovered (e.g., ~5.8 Mb, ~8 Mb, and combined ~7 Mb), with allele origin confirmed by methylation assays. (Aug 2024; bioRxiv; https://doi.org/10.1101/2023.08.30.555563) (gilmore2024generationofisogenic pages 3-6, gilmore2024generationofisogenic pages 14-16)

Functional annotation for GOLGA8K (inferred with caution)
- Primary function: Non-enzymatic, structural tether/scaffold typical of golgins. Likely participates in vesicle tethering and Golgi organization; substrate specificity does not apply, but potential selectivity could arise via binding to specific vesicle coats/Rabs/SNARE partners as observed for other golgins. Direct GOLGA8K partners remain to be experimentally defined. (sumya2023acutecogcomplex pages 14-16, kuodyte2023thegolgicomplex pages 30-35)
- Cellular localization: Cytoplasmic face of the Golgi apparatus (Golgi matrix/rim), likely C-terminally anchored or adaptor-mediated membrane association, projecting a long coiled-coil rod into the cytosol. (kuodyte2023thegolgicomplex pages 30-35, mendes2024exploringliquidliquidphase pages 1-5)
- Pathways: ER-to-Golgi and intra-Golgi trafficking; coordination with tethering machineries such as COG; potential involvement in retrograde/anterograde flows by analogy to characterized golgins. (sumya2023acutecogcomplex pages 14-16)

Limitations and cautions
- The symbol GOLGA8K is specific to human UniProt D6RF30; no evidence supports conflation with non-human or unrelated GOLGA8-like genes. Literature giving “GOLGA8/CASP” often discusses related paralogs (e.g., GOLGA8A/B) or the GOLGA8 core duplicons at 15q11–q13; we avoided assigning paralog-specific findings directly to GOLGA8K unless supported by conserved family features. (paparella2023structuralvariationevolution pages 10-11, paparella2023structuralvariationevolution pages 1-2)

References with URLs and dates
- Sumya FT et al. Acute COG complex inactivation unveiled its immediate impact on Golgi… Traffic. Dec 2023. https://doi.org/10.1111/tra.12876 (sumya2023acutecogcomplex pages 14-16)
- Mendes LFS et al. Exploring Liquid-Liquid Phase Separation in the organization of Golgi Matrix Proteins. bioRxiv. Mar 2024. https://doi.org/10.1101/2023.07.21.550027 (mendes2024exploringliquidliquidphase pages 1-5, mendes2024exploringliquidliquidphase pages 5-8)
- Paparella A et al. Structural Variation Evolution at the 15q11–q13 Disease-Associated Locus. Int J Mol Sci. Oct 2023. https://doi.org/10.3390/ijms242115818 (paparella2023structuralvariationevolution pages 10-11, paparella2023structuralvariationevolution pages 1-2, paparella2023structuralvariationevolution pages 7-8)
- Gilmore RB et al. Generation of isogenic models of Angelman syndrome and Prader–Willi syndrome in CRISPR/Cas9-engineered hESCs. bioRxiv. Aug 2024. https://doi.org/10.1101/2023.08.30.555563 (gilmore2024generationofisogenic pages 3-6, gilmore2024generationofisogenic pages 14-16, gilmore2024generationofisogenic pages 1-3)
- Kuodytė K. The Golgi complex as a regulatory platform for DNA Damage Response pathways. Jan 2023. https://doi.org/10.11588/heidok.00033278 (kuodyte2023thegolgicomplex pages 30-35)
- Su M et al. The Golgi Rim is a Precise Tetraplex of Golgin Proteins… bioRxiv. Mar 2025. https://doi.org/10.1101/2025.03.27.645134 (family-level structural organization) (su2025thegolgirim pages 1-3)

Conclusion
GOLGA8K is best annotated as a human golgin-class coiled-coil tether localized to the Golgi cytoplasmic face, with a presumptive role in vesicle capture and Golgi organization by homology to CASP/GOLGA8 paralogs. The strongest 2023–2024 advances relevant to GOLGA8K concern (i) refined understanding of golgin tethering and recycling roles at the Golgi and (ii) the pivotal role of GOLGA8 core duplicons in recurrent 15q11–q13 rearrangements; the latter has immediate translational relevance, as GOLGA8-targeted CRISPR strategies enable isogenic modeling of PWS/AS in human stem cells. Direct, isoform-specific experiments on GOLGA8K remain an unmet need; until then, domain architecture and family conservation provide the most reliable basis for functional inference. (sumya2023acutecogcomplex pages 14-16, mendes2024exploringliquidliquidphase pages 1-5, paparella2023structuralvariationevolution pages 10-11, gilmore2024generationofisogenic pages 1-3)

References

  1. (kuodyte2023thegolgicomplex pages 30-35): Karolina Kuodytė. The golgi complex as a regulatory platform for dna damage response pathways. Text, Jan 2023. URL: https://doi.org/10.11588/heidok.00033278, doi:10.11588/heidok.00033278. This article has 0 citations and is from a peer-reviewed journal.

  2. (sumya2023acutecogcomplex pages 14-16): Farhana Taher Sumya, Irina D. Pokrovskaya, Zinia D'Souza, and Vladimir V. Lupashin. Acute cog complex inactivation unveiled its immediate impact on golgi and illuminated the nature of intra‐golgi recycling vesicles. Traffic, 24:52-75, Dec 2023. URL: https://doi.org/10.1111/tra.12876, doi:10.1111/tra.12876. This article has 16 citations and is from a peer-reviewed journal.

  3. (mendes2024exploringliquidliquidphase pages 1-5): Luis Felipe S. Mendes, Carolina G. Oliveira, Emanuel Kava, and Antonio J. Costa-Filho. Exploring liquid-liquid phase separation in the organization of golgi matrix proteins. bioRxiv, Mar 2024. URL: https://doi.org/10.1101/2023.07.21.550027, doi:10.1101/2023.07.21.550027. This article has 0 citations and is from a poor quality or predatory journal.

  4. (paparella2023structuralvariationevolution pages 10-11): Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R. Catacchio, Mario Ventura, Evan E. Eichler, Flavia A. M. Maggiolini, and Francesca Antonacci. Structural variation evolution at the 15q11-q13 disease-associated locus. International Journal of Molecular Sciences, 24:15818, Oct 2023. URL: https://doi.org/10.3390/ijms242115818, doi:10.3390/ijms242115818. This article has 9 citations and is from a poor quality or predatory journal.

  5. (gilmore2024generationofisogenic pages 1-3): Rachel B. Gilmore, Dea Gorka, Christopher E. Stoddard, Justin L. Cotney, and Stormy J Chamberlain. Generation of isogenic models of angelman syndrome and prader-willi syndrome in crispr/cas9-engineered human embryonic stem cells. bioRxiv, Aug 2024. URL: https://doi.org/10.1101/2023.08.30.555563, doi:10.1101/2023.08.30.555563. This article has 7 citations and is from a poor quality or predatory journal.

  6. (paparella2023structuralvariationevolution pages 1-2): Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R. Catacchio, Mario Ventura, Evan E. Eichler, Flavia A. M. Maggiolini, and Francesca Antonacci. Structural variation evolution at the 15q11-q13 disease-associated locus. International Journal of Molecular Sciences, 24:15818, Oct 2023. URL: https://doi.org/10.3390/ijms242115818, doi:10.3390/ijms242115818. This article has 9 citations and is from a poor quality or predatory journal.

  7. (gilmore2024generationofisogenic pages 3-6): Rachel B. Gilmore, Dea Gorka, Christopher E. Stoddard, Justin L. Cotney, and Stormy J Chamberlain. Generation of isogenic models of angelman syndrome and prader-willi syndrome in crispr/cas9-engineered human embryonic stem cells. bioRxiv, Aug 2024. URL: https://doi.org/10.1101/2023.08.30.555563, doi:10.1101/2023.08.30.555563. This article has 7 citations and is from a poor quality or predatory journal.

  8. (su2025thegolgirim pages 1-3): Maohan Su, Abhijith Radhakrishnan, You Yan, Yuan Tian, Hong Zheng, Ons M’Saad, Morven Graham, Jeff Coleman, Jean N. D. Goder, Xinran Liu, Yongdeng Zhang, Joerg Bewersdorf, and James E. Rothman. The golgi rim is a precise tetraplex of golgin proteins that can self-assemble into filamentous bands. bioRxiv, Mar 2025. URL: https://doi.org/10.1101/2025.03.27.645134, doi:10.1101/2025.03.27.645134. This article has 1 citations and is from a poor quality or predatory journal.

  9. (mendes2024exploringliquidliquidphase pages 5-8): Luis Felipe S. Mendes, Carolina G. Oliveira, Emanuel Kava, and Antonio J. Costa-Filho. Exploring liquid-liquid phase separation in the organization of golgi matrix proteins. bioRxiv, Mar 2024. URL: https://doi.org/10.1101/2023.07.21.550027, doi:10.1101/2023.07.21.550027. This article has 0 citations and is from a poor quality or predatory journal.

  10. (paparella2023structuralvariationevolution pages 7-8): Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R. Catacchio, Mario Ventura, Evan E. Eichler, Flavia A. M. Maggiolini, and Francesca Antonacci. Structural variation evolution at the 15q11-q13 disease-associated locus. International Journal of Molecular Sciences, 24:15818, Oct 2023. URL: https://doi.org/10.3390/ijms242115818, doi:10.3390/ijms242115818. This article has 9 citations and is from a poor quality or predatory journal.

  11. (gilmore2024generationofisogenic pages 14-16): Rachel B. Gilmore, Dea Gorka, Christopher E. Stoddard, Justin L. Cotney, and Stormy J Chamberlain. Generation of isogenic models of angelman syndrome and prader-willi syndrome in crispr/cas9-engineered human embryonic stem cells. bioRxiv, Aug 2024. URL: https://doi.org/10.1101/2023.08.30.555563, doi:10.1101/2023.08.30.555563. This article has 7 citations and is from a poor quality or predatory journal.

Citations

  1. gilmore2024generationofisogenic pages 3-6
  2. sumya2023acutecogcomplex pages 14-16
  3. su2025thegolgirim pages 1-3
  4. gilmore2024generationofisogenic pages 1-3
  5. paparella2023structuralvariationevolution pages 10-11
  6. kuodyte2023thegolgicomplex pages 30-35
  7. mendes2024exploringliquidliquidphase pages 1-5
  8. paparella2023structuralvariationevolution pages 1-2
  9. mendes2024exploringliquidliquidphase pages 5-8
  10. paparella2023structuralvariationevolution pages 7-8
  11. gilmore2024generationofisogenic pages 14-16
  12. https://doi.org/10.1101/2023.07.21.550027;
  13. https://doi.org/10.3390/ijms242115818;
  14. https://doi.org/10.1101/2023.08.30.555563
  15. https://doi.org/10.11588/heidok.00033278
  16. https://doi.org/10.11588/heidok.00033278;
  17. https://doi.org/10.1101/2023.07.21.550027
  18. https://doi.org/10.1111/tra.12876;
  19. https://doi.org/10.1101/2025.03.27.645134;
  20. https://doi.org/10.1111/tra.12876
  21. https://doi.org/10.3390/ijms242115818
  22. https://doi.org/10.1101/2025.03.27.645134
  23. https://doi.org/10.11588/heidok.00033278,
  24. https://doi.org/10.1111/tra.12876,
  25. https://doi.org/10.1101/2023.07.21.550027,
  26. https://doi.org/10.3390/ijms242115818,
  27. https://doi.org/10.1101/2023.08.30.555563,
  28. https://doi.org/10.1101/2025.03.27.645134,

📄 View Raw YAML

 
id: D6RF30
gene_symbol: GOLGA8K
product_type: PROTEIN
status: COMPLETE
taxon:
  id: NCBITaxon:9606
  label: Homo sapiens
description: >-
  GOLGA8K (Golgin subfamily A member 8K) is a poorly characterized member of the
  GOLGA8/CASP-related golgin subfamily. Like other golgins, it contains extensive
  coiled-coil domains that are predicted to form elongated structures projecting
  from the Golgi membrane. Based on conserved domain architecture and phylogenetic
  inference from characterized golgin family members, GOLGA8K is predicted to
  localize to the cis-Golgi compartment where it likely functions as a vesicle
  tether or scaffold involved in Golgi organization. The gene resides within the
  15q11-q13 region, where GOLGA8 core duplicons are known to mediate recurrent
  chromosomal rearrangements associated with Prader-Willi and Angelman syndromes.
  Direct experimental characterization of GOLGA8K specifically is lacking; all
  functional inferences derive from domain conservation and family-level evidence.
existing_annotations:
- term:
    id: GO:0000137
    label: Golgi cis cisterna
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  review:
    summary: >-
      IBA annotation for cis-Golgi localization inferred from phylogenetic analysis
      using PANTHER. Supporting evidence from orthologs includes FB:FBgn0034697
      (Drosophila), RGD:620282 (rat), and UniProtKB:Q08379 (human golgin-84/CASP).
      Golgin-84/CASP (Q08379) is a well-characterized cis-Golgi tether that interacts
      with other golgins during intra-Golgi trafficking. The annotation is consistent
      with GOLGA8K domain architecture containing GOLGA domains (IPR024858, IPR043937)
      and the conserved coiled-coil structure typical of Golgi-localized golgins.
    action: ACCEPT
    reason: >-
      The IBA annotation is well-supported by phylogenetic inference. GOLGA8K shares
      conserved domain architecture with characterized cis-Golgi golgins including
      golgin-84/CASP. Deep research confirms that golgins occupy the cytoplasmic face
      of the Golgi and function as tethers/scaffolds, with cis-Golgi localization
      being consistent with the GOLGA8/CASP subfamily. The coiled-coil regions and
      GOLGA domains in GOLGA8K strongly support Golgi cisterna localization.
    supported_by:
      - reference_id: GO_REF:0000033
        supporting_text: "Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, UniProtKB:Q08379"
- term:
    id: GO:0005801
    label: cis-Golgi network
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  review:
    summary: >-
      IBA annotation for cis-Golgi network localization based on phylogenetic inference.
      The annotation derives from orthologs including MGI:MGI:2139395 (mouse),
      RGD:620282 (rat), and UniProtKB:Q08379 (human golgin-84/CASP). The cis-Golgi
      network is the entry point for ER-derived vesicles, and golgins in this region
      function as vesicle tethers. Deep research indicates golgins "occupy the
      cytoplasmic face of the Golgi, functioning as tethers/scaffolds in ER-to-Golgi
      and intra-Golgi trafficking."
    action: ACCEPT
    reason: >-
      The cis-Golgi network annotation is phylogenetically well-supported and
      consistent with the GOLGA8/CASP subfamily function. Family-level evidence
      demonstrates that golgins with GOLGA domains localize to cis-Golgi compartments
      where they participate in vesicle capture. This annotation complements the
      Golgi cis cisterna annotation and represents an appropriate level of specificity
      for a golgin family member.
    supported_by:
      - reference_id: GO_REF:0000033
        supporting_text: "Phylogenetic inference from orthologs MGI:MGI:2139395, RGD:620282, UniProtKB:Q08379"
- term:
    id: GO:0007030
    label: Golgi organization
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  review:
    summary: >-
      IBA annotation for biological process involvement in Golgi organization.
      Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, and
      UniProtKB:Q08379. Golgins are established as major structural components of
      the Golgi matrix. Deep research notes that golgins are "Golgi-matrix tethers
      that project into the cytoplasm and mediate vesicle capture, Golgi structural
      integrity, and trafficking." Super-resolution studies describe organized
      arrangements of golgins at the Golgi rim contributing to architecture.
    action: ACCEPT
    reason: >-
      The annotation to Golgi organization is strongly supported by family-level
      evidence. Golgins are well-established as structural scaffolds that maintain
      Golgi integrity. The coiled-coil architecture of GOLGA8K is consistent with
      the extended tether function that golgins use to organize Golgi structure.
      This represents a core function for golgin family members and is appropriate
      for GOLGA8K based on phylogenetic conservation.
    supported_by:
      - reference_id: GO_REF:0000033
        supporting_text: "Phylogenetic inference from orthologs FB:FBgn0034697, RGD:620282, UniProtKB:Q08379"
- term:
    id: GO:0032580
    label: Golgi cisterna membrane
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  review:
    summary: >-
      IBA annotation for Golgi cisterna membrane localization from phylogenetic
      analysis with PANTHER:PTN000094136 and orthologs including RGD:620282. Golgins
      are known to be membrane-associated through their C-termini while projecting
      coiled-coil domains into the cytoplasm. Deep research confirms that golgins are
      "C-terminus anchored to Golgi membrane or via adaptors" with "long cytosolic
      extensions projecting from Golgi surface."
    action: ACCEPT
    reason: >-
      The Golgi cisterna membrane annotation is consistent with golgin biology.
      GOLGA8K contains the GOLGA_C domain (IPR043937) which is associated with
      C-terminal membrane anchoring in golgins. The annotation appropriately captures
      the membrane-associated nature of golgins while the other cellular component
      annotations capture the specific sub-Golgi localization.
    supported_by:
      - reference_id: GO_REF:0000033
        supporting_text: "Phylogenetic inference from PANTHER:PTN000094136, RGD:620282"
- term:
    id: GO:0005794
    label: Golgi apparatus
  evidence_type: IEA
  original_reference_id: GO_REF:0000002
  review:
    summary: >-
      IEA annotation from InterPro domain mapping (InterPro:IPR024858 GOLGA,
      InterPro:IPR043937 GOLGA_C). These domains are characteristic of golgins,
      which by definition localize to the Golgi apparatus. The annotation is broader
      than the IBA annotations for cis-Golgi network and Golgi cis cisterna, which
      provide more specific localization.
    action: ACCEPT
    reason: >-
      The Golgi apparatus annotation is accurate based on the presence of
      GOLGA-family domains. While it is less specific than the IBA annotations
      for cis-Golgi localization, it is not incorrect. IEA annotations from InterPro
      mappings are generally reliable for cellular component when based on
      well-characterized domain families. The GOLGA domains have strong predictive
      value for Golgi localization.
    supported_by:
      - reference_id: GO_REF:0000002
        supporting_text: "InterPro domain mapping from IPR024858 (GOLGA) and IPR043937 (GOLGA_C)"
- term:
    id: GO:0005801
    label: cis-Golgi network
  evidence_type: IEA
  original_reference_id: GO_REF:0000002
  review:
    summary: >-
      IEA annotation for cis-Golgi network from InterPro domain mapping
      (InterPro:IPR043937 GOLGA_C). This is the same term as the IBA annotation
      above, but derived through a different evidence pathway (InterPro domain
      mapping vs phylogenetic inference). The GOLGA_C domain is associated with
      cis-Golgi localization in golgin family members.
    action: ACCEPT
    reason: >-
      This annotation is a duplicate of the IBA annotation for the same GO term
      (GO:0005801) but with different evidence. Both IEA (from domain mapping) and
      IBA (from phylogeny) support cis-Golgi network localization. The redundancy
      is acceptable in GO as different evidence types can independently support
      the same annotation. The InterPro-based inference is consistent with the
      phylogenetic inference.
    supported_by:
      - reference_id: GO_REF:0000002
        supporting_text: "InterPro domain mapping from IPR043937 (GOLGA_C)"
references:
- id: GO_REF:0000002
  title: Gene Ontology annotation through association of InterPro records with GO terms
  findings:
    - statement: GOLGA8K contains InterPro domains IPR024858 (GOLGA) and IPR043937 (GOLGA_C) which map to Golgi localization
- id: GO_REF:0000033
  title: Annotation inferences using phylogenetic trees
  findings:
    - statement: Phylogenetic inference from PANTHER family PTN000094136 supports cis-Golgi localization and Golgi organization function
    - statement: Orthologs include characterized golgins such as UniProtKB:Q08379 (golgin-84/CASP)
core_functions:
  - molecular_function:
      id: GO:0005515
      label: protein binding
    description: >-
      Based on phylogenetic inference and conserved golgin domain architecture,
      GOLGA8K is predicted to function as a coiled-coil tether/scaffold at the
      cis-Golgi network. Golgins typically function through protein-protein
      interactions to tether vesicles. Direct experimental evidence for
      GOLGA8K-specific molecular function is lacking.
    locations:
      - id: GO:0005801
        label: cis-Golgi network
    directly_involved_in:
      - id: GO:0007030
        label: Golgi organization
    supported_by:
      - reference_id: file:human/GOLGA8K/GOLGA8K-deep-research-falcon.md
        supporting_text: "Family-level role: long coiled-coil tethers/scaffolds that capture vesicles (t-tethers and v-tethers described for golgins); interactions reported between golgin84/CASP and intra-Golgi tethering machinery."
suggested_questions:
  - question: >-
      Does GOLGA8K have functional redundancy with other GOLGA8 family paralogs,
      or does it have a distinct role in Golgi organization? The GOLGA8 family
      has expanded through segmental duplications in the human genome.
  - question: >-
      What is the expression pattern and tissue-specific function of GOLGA8K,
      given its reported enrichment in testis (per HPA data)?
suggested_experiments:
  - description: >-
      Immunofluorescence microscopy with GOLGA8K-specific antibodies to confirm
      sub-Golgi localization and compare to other golgin family members.
  - description: >-
      CRISPR knockout or knockdown of GOLGA8K to assess effects on Golgi
      morphology and secretory pathway function.
  - description: >-
      Proximity labeling (BioID/APEX) to identify GOLGA8K-interacting proteins
      and determine its position in the golgin interaction network.