Seroatlas · Human Serome Atlas

DNAAF1

Dynein axonemal assembly factor 1

Also known as: CILD13, DAAF1_HUMAN, DAU1, FLJ25330, LRRC50, ODA7, swt

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

Protein identityUniProt · HPA

UniProt accession: Q8NEP3
Gene: DNAAF1
Ensembl: ENSG00000154099
Chromosome: 16
Canonical length: 725 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

725 residues, UniProt reviewed canonical sequence.

>Q8NEP3|DNAAF1
     1  MHPEPSEPAT GGAAELDCAQ EPGVEESAGD HGSAGRGGCK EEINDPKEIC VGSSDTSYHS
    61  QQKQSGDNGS GGHFAHPRED REDRGPRMTK SSLQKLCKQH KLYITPALND TLYLHFKGFD
   121  RIENLEEYTG LRCLWLQSNG IQKIENLEAQ TELRCLFLQM NLLRKIENLE PLQKLDALNL
   181  SNNYIKTIEN LSCLPVLNTL QMAHNHLETV EDIQHLQECL RLCVLDLSHN KLSDPEILSI
   241  LESMPDLRVL NLMGNPVIRQ IPNYRRTVTV RLKHLTYLDD RPVFPKDRAC AEAWARGGYA
   301  AEKEERQQWE SRERKKITDS IEALAMIKQR AEERKRQRES QERGEMTSSD DGENVPASAE
   361  GKEEPPGDRE TRQKMELFVK ESFEAKDELC PEKPSGEEPP VEAKREDGGP EPEGTLPAET
   421  LLLSSPVEVK GEDGDGEPEG TLPAEAPPPP PPVEVKGEDG DQEPEGTLPA ETLLLSPPVK
   481  VKGEDGDREP EGTLPAEAPP PPPLGAAREE PTPQAVATEG VFVTELDGTR TEDLETIRLE
   541  TKETFCIDDL PDLEDDDETG KSLEDQNMCF PKIEVISSLS DDSDPELDYT SLPVLENLPT
   601  DTLSNIFAVS KDTSKAARVP FTDIFKKEAK RDLEIRKQDT KSPRPLIQEL SDEDPSGQLL
   661  MPPTCQRDAA PLTSSGDRDS DFLAASSPVP TESAATPPET CVGVAQPSQA LPTWDLTAFP
   721  APKAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF1 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): 0.55
Highest tissue expression: 42 nTPM

Expression across tissuesHPA

Tissue

testis: 42 nTPM
choroid plexus: 23 nTPM
fallopian tube: 21 nTPM
hypothalamus: 8 nTPM
hippocampal formation: 5.8 nTPM
basal ganglia: 5.2 nTPM

Single-cell type

respiratory ciliated cells: 769 nCPM
ependymal cells: 656 nCPM
endometrial ciliated cells: 460 nCPM
fallopian tube ciliated cells: 415 nCPM
epididymal efferent duct ciliated cells: 313 nCPM
late primary spermatocytes: 187 nCPM

Immune cell

neutrophil: 2 nTPM
basophil: 1.1 nTPM
T-reg: 0.9 nTPM
naive CD4 T-cell: 0.3 nTPM
NK-cell: 0.3 nTPM
plasmacytoid DC: 0.3 nTPM

Brain region

choroid plexus: 18 nTPM
midbrain: 13 nTPM
medulla oblongata: 7.5 nTPM
pons: 6.6 nTPM
spinal cord: 4.6 nTPM
hippocampal formation: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF1.

Disease | AllUniProt

Conditions DNAAF1 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 13 (CILD13) MIM:613193

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 758 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
DNAAF1-related disorder
Kartagener syndrome
Respiratory ciliopathies including non-CF bronchiectasis

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): 1
gnomAD pLI: 0
gnomAD missense Z: -1.99
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

dynein complex binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAAF1 as an antibody target. Whether an autoantibody or antibody against DNAAF1 could matter depends on whether native DNAAF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF1 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 DNAAF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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