Seroatlas · Human Serome Atlas

DNAAF5

Dynein axonemal assembly factor 5

Also known as: CILD18, DAAF5_HUMAN, FLJ20397, FLJ25564, FLJ31671, FLJ39381, HEATR2

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

Protein identityUniProt · HPA

UniProt accession
Q86Y56
Gene
DNAAF5
Ensembl
ENSG00000164818
Chromosome
7
Canonical length
855 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoli,Microtubules,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

855 residues, UniProt reviewed canonical sequence.

>Q86Y56|DNAAF5
     1  MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL EALRRALEEP
    61  GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL DLGLRRAARP RDALPRLLPA
   121  LAARLAGPVP ARRPPEACEE LRLALVQLLG LAVDLCGAAL APHLDDALRA LRCSLLDPFA
   181  AVRRESCSCA AALAQATPDH FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG
   241  KSVDDVLSHF AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE
   301  VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR ELVFRNLSKI
   361  LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV VLRTLFQACT DEEAAVVQSC
   421  TRSAELVGTF VSPEVFLKLI LSTLKKTPSA SGLLVLASAM RGCPREALQP HLAAIATELA
   481  QAHICQASEN DLYLERLLLC VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ
   541  ETMDSLAMVE GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE
   601  ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL ETVTKDILAP
   661  NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE TLMPQVLTTL EEDSKMTRLI
   721  SCRIINTFLK TSGGMTDPEK LIRIYPELLK RLDDVSNDVR MAAASTLVTW LQCVKGANAK
   781  SYYQSSVQYL YRELLVHLDD PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY
   841  CEQLLQHVQA VPATQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF5 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)
0.24
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 23 nTPM
  • fallopian tube: 13 nTPM
  • endometrium: 12 nTPM
  • pituitary gland: 12 nTPM
  • heart muscle: 11 nTPM
  • esophagus: 11 nTPM

Single-cell type

  • endometrial ciliated cells: 76 nCPM
  • respiratory ciliated cells: 63 nCPM
  • somatotrophs: 59 nCPM
  • fallopian tube ciliated cells: 56 nCPM
  • retinal horizontal cells: 52 nCPM
  • cone photoreceptor cells: 52 nCPM

Immune cell

  • memory CD8 T-cell: 1.8 nTPM
  • plasmacytoid DC: 1.7 nTPM
  • naive B-cell: 1.4 nTPM
  • MAIT T-cell: 1.3 nTPM
  • memory CD4 T-cell: 1.3 nTPM
  • NK-cell: 1.3 nTPM

Brain region

  • choroid plexus: 29 nTPM
  • cerebellum: 27 nTPM
  • midbrain: 25 nTPM
  • thalamus: 23 nTPM
  • cerebral cortex: 21 nTPM
  • spinal cord: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF5.

Disease | AllUniProt

Conditions DNAAF5 is implicated in, by any mechanism.

  • Ciliary dyskinesia, primary, 18 (CILD18) MIM:614874

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 907 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)
0.94
gnomAD pLI
0
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% 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 DNAAF5 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 DNAAF5 as an antibody target. Whether an autoantibody or antibody against DNAAF5 could matter depends on whether native DNAAF5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF5 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 DNAAF5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DNAAF5. 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).

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