Seroatlas · Human Serome Atlas

DNAAF11

Dynein axonemal assembly factor 11

Also known as: CILD19, DAA11_HUMAN, LRRC6, LRTP, tilB, TSLRP

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

Protein identityUniProt · HPA

UniProt accession
Q86X45
Gene
DNAAF11
Ensembl
ENSG00000129295
Chromosome
8
Canonical length
466 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

466 residues, UniProt reviewed canonical sequence.

>Q86X45|DNAAF11
     1  MGWITEDLIR RNAEHNDCVI FSLEELSLHQ QEIERLEHID KWCRDLKILY LQNNLIGKIE
    61  NVSKLKKLEY LNLALNNIEK IENLEGCEEL AKLDLTVNFI GELSSIKNLQ HNIHLKELFL
   121  MGNPCASFDH YREFVVATLP QLKWLDGKEI EPSERIKALQ DYSVIEPQIR EQEKDHCLKR
   181  AKLKEEAQRK HQEEDKNEDK RSNAGFDGRW YTDINATLSS LESKDHLQAP DTEEHNTKKL
   241  DNSEDDLEFW NKPCLFTPES RLETLRHMEK QRKKQEKLSE KKKKVKPPRT LITEDGKALN
   301  VNEPKIDFSL KDNEKQIILD LAVYRYMDTS LIDVDVQPTY VRVMIKGKPF QLVLPAEVKP
   361  DSSSAKRSQT TGHLVICMPK VGEVITGGQR AFKSMKTTSD RSREQTNTRS KHMEKLEVDP
   421  SKHSFPDVTN IVQEKKHTPR RRPEPKIIPS EEDPTFEDNP EVPPLI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF11 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)
0.42
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 47 nTPM
  • testis: 25 nTPM
  • fallopian tube: 18 nTPM
  • basal ganglia: 13 nTPM
  • retina: 13 nTPM
  • cerebral cortex: 12 nTPM

Single-cell type

  • ependymal cells: 440 nCPM
  • respiratory ciliated cells: 397 nCPM
  • late primary spermatocytes: 361 nCPM
  • choroid plexus epithelial cells: 315 nCPM
  • endometrial ciliated cells: 267 nCPM
  • fallopian tube ciliated cells: 261 nCPM

Immune cell

  • neutrophil: 2.5 nTPM
  • basophil: 0.9 nTPM
  • plasmacytoid DC: 0.3 nTPM
  • total PBMC: 0.3 nTPM
  • classical monocyte: 0.2 nTPM
  • MAIT T-cell: 0.2 nTPM

Brain region

  • choroid plexus: 45 nTPM
  • cerebral cortex: 25 nTPM
  • medulla oblongata: 25 nTPM
  • midbrain: 24 nTPM
  • basal ganglia: 22 nTPM
  • spinal cord: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF11.

Disease | AllUniProt

Conditions DNAAF11 is implicated in, by any mechanism.

  • Ciliary dyskinesia, primary, 19 (CILD19) MIM:614935

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 359 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)
1.08
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 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAAF11 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 DNAAF11 as an antibody target. Whether an autoantibody or antibody against DNAAF11 could matter depends on whether native DNAAF11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF11 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 DNAAF11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DNAAF11. 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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