DNAAF6

Protein identityUniProt · HPA

UniProt accession

Q9NQM4

Gene

DNAAF6

Ensembl

ENSG00000080572

Chromosome

X

Canonical length

214 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Primary cilium,Primary cilium tip,Basal body,Cytosol,Acrosome,Equatorial segment

OverviewNCBI Gene

Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

214 residues, UniProt reviewed canonical sequence.

>Q9NQM4|DNAAF6
     1  MESENMDSEN MKTENMESQN VDFESVSSVT ALEALSKLLN PEEEDDSDYG QTNGLSTIGA
    61  MGPGNIGPPQ IEELKVIPET SEENNEDIWN SEEIPEGAEY DDMWDVREIP EYEIIFRQQV
   121  GTEDIFLGLS KKDSSTGCCS ELVAKIKLPN TNPSDIQIDI QETILDLRTP QKKLLITLPE
   181  LVECTSAKAF YIPETETLEI TMTMKRELDI ANFF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF6 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)

0.5

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF6.

Disease | AllUniProt

Conditions DNAAF6 is implicated in, by any mechanism.

• Ciliary dyskinesia, primary, 36, X-linked (CILD36) MIM:300991

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 121 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ciliary dyskinesia, primary, 36, X-linked
• Primary ciliary dyskinesia
• Thyroid cancer, nonmedullary, 1

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)

0.47

gnomAD pLI

0.86

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

• axonemal dynein complex assembly
• cilium movement
• flagellated sperm motility
• inner dynein arm assembly
• outer dynein arm assembly

Molecular functions

• dynein intermediate chain binding
• protein-folding chaperone binding

Cellular components

• cytoplasm
• trans-Golgi network

Protein domainsUniProt · Pfam · InterPro

• PIH1D1/2/3, CS-like domain
• PIH1 CS-like domain
• Dynein axonemal assembly factor 6

KeywordsUniProt

• Ciliopathy
• Cytoplasm
• Golgi apparatus
• Kartagener syndrome
• Primary ciliary dyskinesia

InteractionsUniProt · HPA

Protein binding partners of DNAAF6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAAF2
• DNAAF4
• HSP90AA1