HGNC:32700 identifies DNAAF19, formerly CCDC103, with aliases FLJ13094, FLJ34211, PR46b and CILD17. UniProt Q8IW40 describes a 242-residue canonical protein and a predicted 98-residue alternative product. The latter contains canonical residues 1–92 followed by NSWKSS. It is not the zebrafish Q27-stop mutant, and it lacks the complete native 68–94 segment and 93–242 region tested for self-association. Sequence reconstruction confirms identity, not equivalent activity.
All 42 original source annotations and both product identifiers are retained. The review has 9 ACCEPT, 16 KEEP_AS_NON_CORE, 16 MODIFY, 1 REMOVE and 1 NEW decision. The additional assertion is direct human microtubule binding from PMID:25572396; there is one integrated microtubule-binding, self-association and dynein-arm assembly/attachment core. Supported generic interaction assertions are retained under the explicit ClinGen project instruction, with specific replacements only when the assay and independently established partner class support them.
Panizzi et al., PMID:22581229 was read in full relevant Results and Methods. Figure 3 tests human BC041060 CCDC103 expressed in zebrafish mutants and shows rescue of arm assembly and motility. Figure 4 and associated respiratory-cell Methods concern native human patient material: outer-arm defects vary, proximal components can persist, and selected patients retain DNALI1 staining. The inner-arm assignment is supported by loss of both arm classes in fish and rescue by human protein; it is not a claim of complete inner-arm loss in every human allele.
Figure 5 and the fractionation/recombinant-protein Methods distinguish zebrafish cytoplasm/axoneme microscopy from Chlamydomonas salt-resistant axonemal association, cytoplasmic complexes and purified-protein behavior. Human respiratory material also contains apparent dimers. Persistence on axonemes after arm extraction and in arm/docking-deficient strains supports an attachment location; it does not establish that CCDC103 is a stoichiometric motor-arm subunit. These distinctions justify retaining assembly and homodimerization, generalizing the electronic outer-arm-component assignment to axoneme, and retaining motility/laterality outcomes as non-core.
King and Patel-King, PMID:31858719 was read in the relevant Results, Discussion and Methods. Figure 2 uses human 1–93 and 68–94 segments fused to Chlamydomonas LC1. Figure 3 studies human 93–242 protein obtained from inclusion bodies and refolded by dilution from 8 M urea. It separates into monomeric and oligomeric populations. NMR supports folding but did not yield a complete structure. Figure 7 proposes native polymer arrangements; the H154P structural interpretation is homology modeling. The review does not claim a solved native architecture. The microtubule-binding annotation instead rests on an independent read of the earlier 2015 primary study, described below.
The 2012 and 2019 primary papers have genuine normal XML caches. Their two inherited short exact anchors appear once in the review core. The newly fetched 2015 cache is genuinely abstract-only; separate original access supplies its experimental detail. One four-word exact anchor appears on the new annotation, and the core and notes reuse that reference without repeating the excerpt.
King and Patel-King (2015), PMID:25572396 was recovered as original PMC HTML after failed alternative routes. Methods, protein expression/purification and microtubule-binding assays; Figures 5A, 6, 7A–C and 8 distinguish human His10-tagged protein, bovine-brain microtubules, the no-microtubule control, oligomerization, cold stability and minimal-system EM. Figure 7D and the native axonemal fractionation concern Chlamydomonas. The direct human binding evidence supports GO:0008017; it does not establish native human polymer geometry or equivalent activity of the predicted short product. Original textual Results, Methods and captions were read; no figure-pixel inspection is claimed. The new normal cache retains its full_text_available: false flag.
Motile cilium, GO:0031514 and axoneme, GO:0005930 have complementary scope, with neither a checked ancestor of the other. The retained motile-cilium assertion preserves the motility axis; axonemal evidence adds substructure localization. No 9+2-only restriction is imposed.
A proteome-scale map, PMID:25416956: the protected repository HTML cache lacks the required detailed Methods despite its full-text flag. A separately recovered genuine original supplies the main Results paragraph describing fresh-colony, quadruplicate pairwise retesting, acceptance in at least three attempts and confirmed identities. Experimental Procedures describe the ORF search space and sampled orthogonal validation. Exact target pairs were checked independently in IntAct; no pair-specific MAPPIT, PCA or wNAPPA result is inferred from population-level validation.
Interactome perturbation framework, PMID:29892012: the protected cache is also incomplete for Methods. After saved XML and browser-challenge failures, a genuine original HTML response was recovered. Online Methods, “Cloning of 208 dnMis mutations” and “Experimental examination of 667 protein-protein interactions”, explicitly compare WT and mutant ORFs, require positive WT interactions and remove autoactivators. The DNAAF19–VAC14 record is positive with a non-disruptive VAC14 position-127 variant. The study’s disease-cohort context is not a demonstrated DNAAF19 disease mechanism.
Variant interaction study, PMID:31515488: the full cached Methods describe pairwise WT/variant Y2H, autoactivation controls and repeat disruption measurements. The exact HGS and VAC14 records report non-disruptive DNAAF19 variants. Position-154 variation here is not automatically equivalent to pathogenic H154P. PCA validates a sampled subset; target-specific PCA confirmation was not established.
HuRI, PMID:32296183: the full cached main article describes three assay configurations, quadruplicate retesting and sequence confirmation. All 14 imported partner claims were matched to positive IntAct records. Tag orientation, reference sequence, the CENPN isoform and the separate GRIPAP1 sufficient-binding-region feature were checked. The survey is a binary assay resource; it does not demonstrate every interaction in an endogenous ciliated cell.
Multimodal cell map, PMID:40205054: the cached AP-MS Methods describe C-terminal HA-Flag baits, U2OS affinity capture, mass spectrometry and filtering. The paper-linked primary AP-MS network contains CCDC103 bait node 582992, GRIPAP1 prey node 566184 and edge 582996. This is direct primary evidence of co-capture, not an inference from the integrated embedding, imaging or global SEC validation. It does not establish direct molecular contact or the processed GRIPAP1 chain.
The IntAct query for Q8IW40 returned 101 records. The source-specific projection contains 67 records across 22 imported interaction annotations; screening and retest records are not 67 independent biological interactions. All 134 participant reference-sequence ROGIDs match independently reconstructed official sequences. Mutation and sufficient-binding-region features are retained separately: a reference-sequence checksum neither proves that a variant construct was wild type nor authenticates an engineered fragment sequence. The AP-MS annotation is supported by the separate primary graph.
The following terms describe the partner that DNAAF19 binds in the reported assay. They do not transfer the partner’s catalytic, transcriptional or cytoskeletal activity to DNAAF19. Endogenous stoichiometry, functional regulation and tissue co-localization remain unestablished for these screen-derived pairs.
| Source rows (zero-based) | Partner | Evidence and disposition |
|---|---|---|
| 3, 9 | HGS O14964 | Positive binary and variant-assay associations; retain non-core. HGS is not a kinase because its historical name includes kinase substrate. No specific DNAAF19 signaling/adaptor mechanism is established. |
| 4 | MEOX2 P50222 | Verified binary pair and established DNA-binding transcription-factor class support GO:0140297. |
| 5, 8, 10, 16 | VAC14 Q08AM6 | Independent binary/variant records and the defined PIKFYVE–FIG4 scaffold support GO:0097110. Native complex incorporation is not claimed. |
| 6 | R3HCC1L Q7Z5L2 | Positive binary interaction; no established narrower partner class. |
| 7 | RUVBL2 Q9Y230 | Positive binary interaction plus established ATP hydrolysis supports ATPase binding, GO:0051117. |
| 11 | PNMA6A P0CW24 | Positive binary pair; no narrower function established in the official record. |
| 12, 14 | PAX6 P26367, MEOX1 P50221 | Verified binary pairs with DNA-binding transcription factors support GO:0140297. |
| 13 | PRKAR1B P31321 | Regulatory PKA subunit; a protein-kinase-binding claim would confuse regulatory and catalytic subunits. Retain non-core. |
| 15, 23 | SUOX P51687, PLAAT1 Q9HDD0 | Verified binary pairs with established enzymes support GO:0019899. No catalytic function is assigned to DNAAF19. |
| 17 | PKN1 Q16512 | Verified binary pair with a protein kinase supports GO:0019901. |
| 18, 25 | GRIPAP1 Q4V328 | IntAct annotates residues 358–841 as a sufficient binding region. Its ROGID authenticates the full 841-residue reference parent, not the engineered fragment. The defined signaling scaffold is processed chain 599–841; contact within the larger annotated region is unresolved. AP-MS is contextual co-capture. Retain both non-core. |
| 19 | MEOX2 clone Q6FHY5 | Keep the literal clone accession. It differs from reviewed P50222 by one N-terminal glutamine deletion, outside the unchanged homeodomain. Binary binding supports GO:0140297. |
| 20 | USHBP1 Q8N6Y0 | Positive binary association; the harmonin-binding name does not establish a narrower class. |
| 21 | RCN3 Q96D15 | Positive binary pair; the probable chaperone description does not settle a specific recognition class. Retain non-core without treating compartment difference as disproof. |
| 22 | CENPN Q96H22-3 | The isoform-specific C-terminal sequence and ROGID match. Retain the pair without assigning a centromere role to DNAAF19. |
| 24 | PICK1 Q9NRD5 | Binary binding plus established actin/Arp2/3 regulation supports GO:0005519. DNAAF19-mediated inhibition is not claimed. |
The current DNA-binding transcription factor binding definition was used instead of GO:0008134, whose comment requests a more specific descendant. The scaffold protein binding, ATPase binding, kinase binding, enzyme binding and cytoskeletal regulatory protein binding definitions were checked directly.
The official PTHR28572 tree places human PTN002523902 below PTN002005038. The recovered IBD snapshot contains GO:0007368 and GO:0036159 at that node, with human Q8IW40 as a legitimate experimental seed. It lacks the separate GO:0003351 IBD line, although the current node/tree and target/donor QuickGO records retain the process. That limited historical-trace gap is reported; positive ciliary motility evidence supports contextual retention. Donor count and target self-inclusion are not treated as defects.
Zebrafish Q6DGB6 has matching cytoplasm and axoneme IDA annotations from the 2012 original. These support the ISS transfers with species limits explicit. InterPro IPR042422 matches target residues 3–241 and maps both broad assembly and outer-arm location. The family identity is sound; broad assembly is refined to the two arm classes, while overly narrow outer-arm membership is generalized to axoneme using the original fractionation evidence.
The sole removal concerns GO:0005576, an electronic record whose listed sources are the two retained ciliary flow processes. GO_REF:0000120 is a combined electronic method; the source fields expose the process-to-location inference. Extracellular fluid being moved does not place the intracellular axonemal protein outside the plasma membrane. No experimental secretion result is rejected.
The genuine bootstrap, publication caching and source snapshots are preserved. Falcon returned authentication HTTP 403 and the configured perplexity-lite fallback returned insufficient-quota HTTP 401; neither produced a report, and no provider text was fabricated. Manual source work is recorded here and in the notes.
Protected main publication bytes were preserved even when a separately recovered original contained additional Methods. Failed original routes, including an empty earlier XML artifact mistakenly considered for reuse, are retained as failures; the effective 2014 source is the genuine HTML, and the effective 2018 source is the successful PMC HTML with the report query. No failure is represented as a full-text read. Figure captions and textual Results were read; figure pixels and uninspected supplementary datasets were not claimed as inspected.
This guide is an access and navigation record, not independent experimental support. Its former entries in all 42 annotation supported_by lists were removed; the underlying original references remain. Binary interactions are refined only when the literal pair and the partner class meet the checked definition. These refinements do not establish native interactions or a transcriptional/regulatory role of DNAAF19. GRIPAP1 processed-chain uncertainty, AP-MS co-capture and RCN3's tentative chaperone class retain their distinct limits. The appended notes contain the biological synthesis and identify which earlier counts and localization statement are superseded.