Seroatlas · Human Serome Atlas

DNAAF3

Dynein axonemal assembly factor 3

Also known as: C19orf51, CILD2, DAAF3_HUMAN, FLJ36139, FLJ40069, PCD, PF22

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N9W5
Gene: DNAAF3
Ensembl: ENSG00000167646
Chromosome: 19
Canonical length: 541 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q8N9W5|DNAAF3
     1  MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL
    61  LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA
   121  LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG
   181  PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF
   241  ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG
   301  QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH
   361  FLPLNSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ
   421  EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA
   481  QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG
   541  V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 61 nTPM

Expression across tissuesHPA

Tissue

testis: 61 nTPM
fallopian tube: 38 nTPM
choroid plexus: 9.6 nTPM
heart muscle: 4.7 nTPM
lung: 4.1 nTPM
parathyroid gland: 3.3 nTPM

Single-cell type

cardiomyocytes: 100 nCPM
early spermatids: 52 nCPM
respiratory ciliated cells: 51 nCPM
fallopian tube ciliated cells: 25 nCPM
ependymal cells: 24 nCPM
respiratory deuterosomal cells: 15 nCPM

Immune cell

total PBMC: 0.3 nTPM
myeloid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

midbrain: 16 nTPM
choroid plexus: 12 nTPM
medulla oblongata: 8.6 nTPM
pons: 6.1 nTPM
spinal cord: 5.8 nTPM
hypothalamus: 4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF3.

Disease | AllUniProt

Conditions DNAAF3 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 2 (CILD2) MIM:606763

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 569 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 2
Sarcoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.99
gnomAD pLI: 0
gnomAD missense Z: 0.41
DepMap mean gene effect: 0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Domain of unknown function DUF4470
Dynein assembly factor 3, C-terminal domain
Dynein assembly factor 3, axonemal
Domain of unknown function (DUF4470)
Domain of unknown function (DUF4471)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAAF3 as an antibody target. Whether an autoantibody or antibody against DNAAF3 could matter depends on whether native DNAAF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DNAAF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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