Seroatlas · Human Serome Atlas

CFAP251

Cilia- and flagella-associated protein 251

Also known as: CaM-IP4, CF251_HUMAN, MGC33630, WDR66

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

Protein identityUniProt · HPA

UniProt accession
Q8TBY9
Gene
CFAP251
Ensembl
ENSG00000158023
Chromosome
12
Canonical length
1149 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mid piece,End piece

OverviewNCBI Gene

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

1149 residues, UniProt reviewed canonical sequence.

>Q8TBY9|CFAP251
     1  MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
    61  EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
   121  TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
   181  ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
   241  DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
   301  IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
   361  LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
   421  YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
   481  SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
   541  LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
   601  LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
   661  GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
   721  MLVVRNGQRV WEYLARLRSH RKSIRSLLFG VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
   781  HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
   841  SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
   901  YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG KFYRELEDYF
   961  YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE EKIDDIFNEI KFGEYVDTGK
  1021  LIDKINLPDF LKVYLNHKPP FGNTMSGIHK SFEVLGYTNS KGKKAIRRED FLRLLVTKGE
  1081  HMTEEEMLDC FASLFGLNPE GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI
  1141  SEDSGQDGQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP251 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)
0.34
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 21 nTPM
  • choroid plexus: 19 nTPM
  • testis: 19 nTPM
  • pituitary gland: 7.1 nTPM
  • thyroid gland: 5.1 nTPM
  • epididymis: 4.4 nTPM

Single-cell type

  • respiratory ciliated cells: 444 nCPM
  • ependymal cells: 364 nCPM
  • endometrial ciliated cells: 208 nCPM
  • fallopian tube ciliated cells: 185 nCPM
  • epididymal efferent duct ciliated cells: 169 nCPM
  • choroid plexus epithelial cells: 151 nCPM

Immune cell

  • plasmacytoid DC: 1.6 nTPM
  • basophil: 0.2 nTPM
  • neutrophil: 0.1 nTPM
  • T-reg: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • choroid plexus: 31 nTPM
  • midbrain: 16 nTPM
  • medulla oblongata: 15 nTPM
  • hypothalamus: 11 nTPM
  • pons: 8.1 nTPM
  • spinal cord: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP251.

Disease | AllUniProt

Conditions CFAP251 is implicated in, by any mechanism.

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 229 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)
0.72
gnomAD pLI
0
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP251 as an antibody target. Whether an autoantibody or antibody against CFAP251 could matter depends on whether native CFAP251 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP251 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 CFAP251 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CFAP251. 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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