DNAAF19

Protein identityUniProt · HPA

UniProt accession

Q8IW40

Gene

DNAAF19

Ensembl

ENSG00000167131

Chromosome

17

Canonical length

242 aa

Protein class

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

Subcellular location

Cytosol,Connecting piece,Mid piece

Quaternary structure

Homodimer

OverviewNCBI Gene

Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

242 residues, UniProt reviewed canonical sequence.

>Q8IW40|DNAAF19
     1  MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI VLASHLKPLE
    61  RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE TSADFYRDWR RHLPSGPERY
   121  QALLQLGGPR LGCLFQTDVG FGLLGELLVA LADHVGPADR AAVLGILCSL ASTGRFTLNL
   181  SLLSRAERES CKGLFQKLQA MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ
   241  VD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF19 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)

0.43

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF19.

Disease | AllUniProt

Conditions DNAAF19 is implicated in, by any mechanism.

• Ciliary dyskinesia, primary, 17 (CILD17) MIM:614679

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary ciliary dyskinesia
• Primary ciliary dyskinesia 17
• Infertility disorder
• CCDC103-related disorder
• 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)

1.36

gnomAD pLI

0

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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
• determination of digestive tract left/right asymmetry
• determination of left/right symmetry
• epithelial cilium movement involved in determination of left/right asymmetry
• epithelial cilium movement involved in extracellular fluid movement
• heart looping
• inner dynein arm assembly
• outer dynein arm assembly

Molecular functions

• protein homodimerization activity

Cellular components

• axoneme
• cytoplasm
• extracellular region
• motile cilium
• outer dynein arm

Protein domainsUniProt · Pfam · InterPro

• RNA-polymerase II-associated protein 3-like, C-terminal domain
• Potential Monad-binding region of RPAP3
• Dynein attachment factor, N-terminal
• Coiled-coil domain-containing protein 103
• Dynein attachment factor N-terminus

KeywordsUniProt

• Cell projection
• Ciliopathy
• Cilium
• Cilium biogenesis/degradation
• Coiled coil
• Cytoplasm
• Flagellum
• Kartagener syndrome
• Primary ciliary dyskinesia

InteractionsUniProt · HPA

Protein binding partners of DNAAF19 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• VAC14