Seroatlas · Human Serome Atlas

CFAP300

Cilia- and flagella-associated protein 300

Also known as: C11orf70, CF300_HUMAN, DNAAF17, FBB5, MGC13040

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

Protein identityUniProt · HPA

UniProt accession
Q9BRQ4
Gene
CFAP300
Ensembl
ENSG00000137691
Chromosome
11
Canonical length
267 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Centrosome

OverviewNCBI Gene

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

267 residues, UniProt reviewed canonical sequence.

>Q9BRQ4|CFAP300
     1  MATGELGDLG GYYFRFLPQK TFQSLSSKEI TSRLRQWSML GRIKAQAFGF DQTFQSYRKD
    61  DFVMAFFKDP NVIPNLKLLS DSSGQWIILG TEVKKIEAIN VPCTQLSMSF FHRLYDEDIV
   121  RDSGHIVKCL DSFCDPFLIS DELRRVLLVE DSEKYEIFSQ PDREEFLFCL FKHLCLGGAL
   181  CQYEDVISPY LETTKLIYKD LVSVRKNPQT KKIQITSSVF KVSAYDSAGM CYPSAKNHEQ
   241  TFSYFIVDPI RRHLHVLYHC YGVGDMS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP300 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)
0.26
Highest tissue expression
28 nTPM

Expression across tissuesHPA

Tissue

  • testis: 28 nTPM
  • fallopian tube: 27 nTPM
  • choroid plexus: 23 nTPM
  • epididymis: 10 nTPM
  • seminal vesicle: 6.2 nTPM
  • cervix: 5.1 nTPM

Single-cell type

  • late primary spermatocytes: 554 nCPM
  • respiratory ciliated cells: 340 nCPM
  • early spermatids: 317 nCPM
  • fallopian tube ciliated cells: 228 nCPM
  • early primary spermatocytes: 172 nCPM
  • endometrial ciliated cells: 157 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • neutrophil: 0.2 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • midbrain: 13 nTPM
  • medulla oblongata: 11 nTPM
  • spinal cord: 8.5 nTPM
  • white matter: 6.4 nTPM
  • pons: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP300.

Disease | AllUniProt

Conditions CFAP300 is implicated in, by any mechanism.

  • Ciliary dyskinesia, primary, 38 (CILD38) MIM:618063

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 122 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)
1.14
gnomAD pLI
0
DepMap mean gene effect
-0.03
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Cilia- and flagella-associated protein 300
  • Cilia- and flagella-associated protein 300

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP300 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 CFAP300 as an antibody target. Whether an autoantibody or antibody against CFAP300 could matter depends on whether native CFAP300 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP300 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 CFAP300 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CFAP300. 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...