UBAC2

UniProt ID: Q8NBM4
Organism: Homo sapiens
Review Status: COMPLETE
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Gene Description

UBAC2 (ubiquitin-associated domain-containing protein 2, also PHGDHL1) is a multi-pass endoplasmic reticulum (ER) membrane protein of the rhomboid superfamily. Its N-terminal region adopts a rhomboid-like fold but is a catalytically inactive pseudoprotease (it lacks the conserved serine-protease catalytic dyad), and its C-terminal cytoplasmic UBA domain binds ubiquitin. UBAC2 acts as an ER-membrane scaffolding/adaptor component rather than an enzyme. It partners the active rhomboid protease RHBDD1 in the ER-associated degradation (ERAD) of membrane substrates, where its UBA domain engages ubiquitinated clients. UBAC2 is also the ER receptor that binds FAF2/UBXD8 and restricts FAF2 trafficking from the ER to lipid droplets, thereby modulating ER-to-cytosol dislocation and lipid-droplet partitioning. Independently, UBAC2 serves as a selective autophagy (ER-phagy/reticulophagy) receptor; a LIR motif in its cytoplasmic domain binds the autophagosomal protein GABARAP, and MARK2-mediated phosphorylation at Ser223 promotes UBAC2 dimerization and GABARAP binding to drive ER-phagy, which in turn restrains ER-stress-induced inflammatory responses. In a complex with LMBR1L and the E3 ubiquitin ligase AMFR, UBAC2 also negatively regulates canonical Wnt/beta-catenin signaling in lymphocytes by promoting degradation of CTNNB1 and the Wnt receptors FZD6 and LRP6.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0004252 serine-type endopeptidase activity
IBA
GO_REF:0000033
REMOVE
Summary: UBAC2 belongs to the rhomboid superfamily but is a catalytically inactive pseudoprotease; the UniProt record and ERAD literature describe it as a rhomboid pseudoprotease lacking the serine-protease catalytic dyad. This IBA is propagated from the active-rhomboid branch of the phylogenetic tree and is biologically incorrect for UBAC2.
Reason: UBAC2 is explicitly characterized as an ER-resident rhomboid pseudoprotease in PMID:23297223. The OpenScientist sequence audit finds the only GxSG-like motif outside the three annotated membrane spans and no membrane catalytic histidine, supporting target-specific loss of the rhomboid catalytic machinery. This contradicts inherited serine endopeptidase activity without excluding its nonproteolytic ER functions.
Propagation Review
Root cause: PROPAGATION BAD
Failure modes: PSEUDO OR SUBACTIVITY LOSS
Sources checked:
PANTHER:PTN002453758 SUPPORTS SOURCE BUT NOT TARGET
Proximate IBA ancestral node verified in the cached GOA WITH/FROM field. Target-specific loss of the catalytic apparatus, documented in the cited primary/sequence evidence, challenges retention of this ancestral reaction. The full PAINT reconstruction was not independently repeated; extant donor count or target self-inclusion is not evidence against the annotation.
Supporting Evidence:
PMID:23297223
the ER-resident rhomboid pseudoprotease UBAC2
file:human/UBAC2/UBAC2-hypotheses/function-hypothesis-go-0004252/openscientist.md
UBAC2 does not have serine-type endopeptidase activity (GO:0004252). The annotation should be removed.
file:human/UBAC2/UBAC2-hypotheses/function-hypothesis-go-0004252/openscientist.md
The IBA (Inferred from Biological Ancestor) annotation originated from PANTHER phylogenetic propagation (GO_REF:0000033), which incorrectly transferred serine endopeptidase activity from active rhomboid proteases to UBAC2 based on family membership alone.
file:human/UBAC2/UBAC2-hypotheses/function-hypothesis-go-0004252/openscientist.md
No GxSG motif exists within the three transmembrane segments of UBAC2
GO:0005789 endoplasmic reticulum membrane
IEA
GO_REF:0000044
ACCEPT
Summary: UBAC2 is a multi-pass ER membrane protein; the electronic subcellular-location assignment is consistent with direct experimental evidence.
Reason: Core compartment; UBAC2 is an integral ER membrane protein.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
GO:0005515 protein binding
IPI
PMID:22119785
Defining human ERAD networks through an integrative mapping ...
REMOVE
Summary: The cited interaction evidence is retained as context, but the generic protein-binding term does not specify a molecular function.
Reason: PMID:22119785 reports protein interactions. Remove this uninformative GO:0005515 assertion under the annotation-reviewer policy; this does not reject the interaction or infer that the experiment assayed the wrong gene. A specific molecular function is not inferred from an interaction screen alone.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
Q8NBM4; Q96CS3: FAF2
GO:0005515 protein binding
IPI
PMID:25416956
A proteome-scale map of the human interactome network.
REMOVE
Summary: The cited interaction evidence is retained as context, but the generic protein-binding term does not specify a molecular function.
Reason: PMID:25416956 reports protein interactions. Remove this uninformative GO:0005515 assertion under the annotation-reviewer policy; this does not reject the interaction or infer that the experiment assayed the wrong gene. A specific molecular function is not inferred from an interaction screen alone.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
Q8NBM4; Q13137: CALCOCO2
GO:0005515 protein binding
IPI
PMID:28514442
Architecture of the human interactome defines protein commun...
REMOVE
Summary: The cited interaction evidence is retained as context, but the generic protein-binding term does not specify a molecular function.
Reason: PMID:28514442 reports protein interactions. Remove this uninformative GO:0005515 assertion under the annotation-reviewer policy; this does not reject the interaction or infer that the experiment assayed the wrong gene. A specific molecular function is not inferred from an interaction screen alone.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
Q8NBM4; Q96CS3: FAF2
GO:0005515 protein binding
IPI
PMID:40205054
Multimodal cell maps as a foundation for structural and func...
REMOVE
Summary: The cited interaction evidence is retained as context, but the generic protein-binding term does not specify a molecular function.
Reason: PMID:40205054 reports protein interactions. Remove this uninformative GO:0005515 assertion under the annotation-reviewer policy; this does not reject the interaction or infer that the experiment assayed the wrong gene. A specific molecular function is not inferred from an interaction screen alone.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
Q8NBM4; Q96CS3: FAF2
GO:0090090 negative regulation of canonical Wnt signaling pathway
IEA
GO_REF:0000107
ACCEPT
Summary: Orthology-based assignment of the negative Wnt-regulation role, consistent with the experimental IMP evidence (LMBR1L/AMFR complex promotes degradation of CTNNB1 and Wnt receptors).
Reason: Correct biological process; redundant with experimental IMP evidence.
Supporting Evidence:
PMID:31073040
attenuated Wnt signaling in lymphocytes
GO:0005515 protein binding
IPI
PMID:39284914
ER-phagy restrains inflammatory responses through its recept...
MODIFY
Summary: UBAC2 connects the ER membrane to autophagosomal GABARAP through its LIR motif.
Reason: Direct interaction, LIR dependence, and selective ER-degradation experiments establish ER-autophagosome adaptor function; this is a supported replacement for generic protein binding.
Supporting Evidence:
PMID:39284914
UBAC2 harbors a canonical LC3-interacting region (LIR) in its cytoplasmic domain, which binds to autophagosomal GABARAP.
PMID:39284914
Dimerized UBAC2 interacts more strongly with GABARAP, thus facilitating selective degradation of the ER.
GO:0050728 negative regulation of inflammatory response
IMP
PMID:39284914
ER-phagy restrains inflammatory responses through its recept...
ACCEPT
Summary: By driving ER-phagy, UBAC2 restrains ER-stress-induced inflammatory responses and acute colitis in mice; perturbation of UBAC2 alters the inflammatory response.
Reason: Directly supported (IMP); a downstream consequence of UBAC2's ER-phagy receptor activity.
Supporting Evidence:
PMID:39284914
UBAC2 restrains inflammatory responses and acute ulcerative
GO:0061709 reticulophagy
IMP
PMID:39284914
ER-phagy restrains inflammatory responses through its recept...
ACCEPT
Summary: UBAC2 is a selective ER-phagy (reticulophagy) receptor with a LIR motif that binds GABARAP; MARK2-mediated Ser223 phosphorylation drives dimerization and GABARAP binding to mediate selective ER degradation.
Reason: Directly demonstrated core biological process; UBAC2 functions as an ER-phagy receptor.
Supporting Evidence:
PMID:39284914
we identified ubiquitin-associated domain-containing protein 2 (UBAC2) as a receptor for ER-phagy
file:human/UBAC2/UBAC2-deep-research-falcon.md
UBAC2 contains a **canonical LIR** in its cytosolic domain that binds **GABARAP**.
GO:0005515 protein binding
IPI
PMID:31073040
LMBR1L regulates lymphopoiesis through Wnt/Ξ²-catenin signali...
REMOVE
Summary: The cited interaction evidence is retained as context, but the generic protein-binding term does not specify a molecular function.
Reason: PMID:31073040 reports protein interactions. Remove this uninformative GO:0005515 assertion under the annotation-reviewer policy; this does not reject the interaction or infer that the experiment assayed the wrong gene. A specific molecular function is not inferred from an interaction screen alone.
Supporting Evidence:
file:human/UBAC2/UBAC2-uniprot.txt
Interacts with LMBR1L
GO:0090090 negative regulation of canonical Wnt signaling pathway
IMP
PMID:31073040
LMBR1L regulates lymphopoiesis through Wnt/Ξ²-catenin signali...
ACCEPT
Summary: With LMBR1L and AMFR, UBAC2 negatively regulates canonical Wnt signaling in lymphocytes by promoting ubiquitin-mediated degradation of CTNNB1 and the Wnt receptors FZD6 and LRP6.
Reason: Directly supported (IMP) biological process; a distinct UBAC2 regulatory role.
Supporting Evidence:
PMID:31073040
attenuated Wnt signaling in lymphocytes
GO:1904153 negative regulation of retrograde protein transport, ER to cytosol
IMP
PMID:25660456
Identification of ERAD components essential for dislocation ...
ACCEPT
Summary: UBAC2 negatively regulates ER-to-cytosol dislocation/retrotranslocation, consistent with its role as the ER receptor that restricts FAF2/UBXD8 trafficking and modulates ERAD substrate dislocation.
Reason: Directly supported (IMP); UBAC2 modulates the ER-to-cytosol retrotranslocation step of ERAD.
Supporting Evidence:
PMID:25660456
dislocation, also known as retrotranslocation, of those unwanted proteins from
GO:0005783 endoplasmic reticulum
IDA
PMID:23297223
Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediat...
ACCEPT
Summary: Direct evidence that UBAC2 is an ER-resident protein, the compartment where it acts as an ER receptor for FAF2/UBXD8.
Reason: Core compartment; directly demonstrated.
Supporting Evidence:
PMID:23297223
the ER-resident rhomboid pseudoprotease UBAC2
GO:0070972 protein localization to endoplasmic reticulum
IDA
PMID:23297223
Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediat...
ACCEPT
Summary: UBAC2 retains FAF2/UBXD8 at the ER (restricting its trafficking to lipid droplets), thereby controlling FAF2 protein localization to the ER.
Reason: Directly supported; UBAC2 acts as an ER receptor that governs partner localization at the ER.
Supporting Evidence:
PMID:23297223
restricts trafficking of UBXD8 to LDs

Core Functions

ER-membrane scaffolding/adaptor pseudoprotease of the rhomboid superfamily that, via its cytoplasmic UBA domain, engages ubiquitinated substrates as a component of the ER-associated degradation (ERAD) machinery and acts as the ER receptor restricting FAF2/UBXD8 trafficking from the ER to lipid droplets.

Supporting Evidence:
  • PMID:23297223
    the ER-resident rhomboid pseudoprotease UBAC2
  • PMID:25660456
    dislocation, also known as retrotranslocation, of those unwanted proteins from

Selective autophagy (ER-phagy/reticulophagy) receptor whose cytoplasmic LIR motif binds autophagosomal GABARAP; MARK2-driven Ser223 phosphorylation promotes dimerization and GABARAP binding to mediate selective ER degradation, thereby restraining ER-stress-induced inflammatory responses.

Supporting Evidence:
  • PMID:39284914
    UBAC2 harbors a canonical LC3-interacting region (LIR) in its cytoplasmic domain, which binds to autophagosomal GABARAP.
  • PMID:39284914
    Dimerized UBAC2 interacts more strongly with GABARAP, thus facilitating selective degradation of the ER.

UBAC2 associates with LMBR1L and AMFR/GP78 in an ER complex that attenuates canonical Wnt signaling by limiting FZD6/LRP6 receptor maturation and stabilizing destruction-complex proteins in lymphocytes.

Supporting Evidence:
  • PMID:31073040
    The interaction of LMBR1L with glycoprotein 78 (GP78) and ubiquitin-associated domain-containing protein 2 (UBAC2) attenuated Wnt signaling in lymphocytes by preventing the maturation of FZD6 and LRP6 through ubiquitination within the endoplasmic reticulum and by stabilizing "destruction complex" proteins.

References

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Suggested Questions for Experts

Q: Does the UBAC2 cytoplasmic UBA domain directly bind ubiquitinated ERAD substrates handed off by the active rhomboid protease RHBDD1, and what substrate range does the RHBDD1-UBAC2 module degrade?

Q: How are UBAC2's ERAD-component, FAF2 ER-receptor, ER-phagy receptor, and Wnt-regulatory activities coordinated or partitioned, and do they share the same UBAC2 pool or distinct membrane microdomains?

Suggested Experiments

Experiment: Reconstitute or co-immunoprecipitate the RHBDD1-UBAC2 module and test whether UBAC2 UBA-domain mutants lose binding to ubiquitinated membrane ERAD substrates, dissociating the scaffolding role from RHBDD1 catalysis.

Experiment: Use Ser223-phospho (S223A and S223D) and LIR-motif (W275A/L278A) UBAC2 mutants in ER-phagy flux assays (RFP-GFP ER reporters) with and without ER stress to quantify the contribution of MARK2-driven dimerization to selective ER degradation.

Experiment: Perform comparative proteomics of UBAC2 interactomes under basal, ER-stress, and starvation conditions to map how its ERAD, ER-phagy, and Wnt-regulatory partner networks are remodeled.

Deep Research

Falcon

(UBAC2-deep-research-falcon.md)

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OpenScientist

(UBAC2-hypotheses/function-hypothesis-go-0004252/openscientist.md)

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πŸ“š Additional Documentation

Notes

(UBAC2-notes.md)

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Pn Notes

(UBAC2-pn-notes.md)

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