Seroatlas · Human Serome Atlas

DNAAF4

Dynein axonemal assembly factor 4

Also known as: CILD25, DAAF4_HUMAN, DYX1C1, EKN1, FLJ37882

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

Protein identityUniProt · HPA

UniProt accession
Q8WXU2
Gene
DNAAF4
Ensembl
ENSG00000256061
Chromosome
15
Canonical length
420 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol,Connecting piece,Mid piece,Principal piece

OverviewNCBI Gene

This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

420 residues, UniProt reviewed canonical sequence.

>Q8WXU2|DNAAF4
     1  MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
    61  SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
   121  AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
   181  LCQKEKQIKE ERKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
   241  NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
   301  FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA LELLMPPVTD
   361  NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK IVQIDAEKIR NVIQGTELKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF4 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)
0.41
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • retina: 27 nTPM
  • choroid plexus: 17 nTPM
  • epididymis: 11 nTPM
  • fallopian tube: 11 nTPM
  • testis: 11 nTPM
  • parathyroid gland: 8.2 nTPM

Single-cell type

  • ependymal cells: 196 nCPM
  • choroid plexus epithelial cells: 126 nCPM
  • renal collecting duct principal cells: 72 nCPM
  • other brain neurons: 68 nCPM
  • proximal tubule cells: 56 nCPM
  • loop of henle epithelial cells: 52 nCPM

Immune cell

  • plasmacytoid DC: 1.9 nTPM
  • neutrophil: 1.5 nTPM
  • memory B-cell: 1.4 nTPM
  • naive B-cell: 1.3 nTPM
  • classical monocyte: 0.8 nTPM
  • T-reg: 0.8 nTPM

Brain region

  • choroid plexus: 20 nTPM
  • cerebral cortex: 18 nTPM
  • hypothalamus: 18 nTPM
  • midbrain: 14 nTPM
  • medulla oblongata: 14 nTPM
  • hippocampal formation: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF4.

Disease | AllUniProt

Conditions DNAAF4 is implicated in, by any mechanism.

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 337 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.12
gnomAD pLI
0
DepMap mean gene effect
0.09
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAAF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAAF4 as an antibody target. Whether an autoantibody or antibody against DNAAF4 could matter depends on whether native DNAAF4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF4 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 DNAAF4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DNAAF4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...