Seroatlas · Human Serome Atlas

CFAP57

Cilia- and flagella-associated protein 57

Also known as: CFA57_HUMAN, FLJ32000, WDR65

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

Protein identityUniProt · HPA

UniProt accession: Q96MR6
Gene: CFAP57
Ensembl: ENSG00000243710
Chromosome: 1
Canonical length: 1250 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Primary cilium,Cytosol
Quaternary structure: Homodimer

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 is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1250 residues, UniProt reviewed canonical sequence.

>Q96MR6|CFAP57
     1  MSAVVAQTLH VFGLRSHVAN NIFYFDEQII IFPSGNHCVK YNVDQKWQKF IPGSEKSQGM
    61  LALSISPNRR YLAISETVQE KPAITIYELS SIPCRKRKVL NNFDFQVQKF ISMAFSPDSK
   121  YLLAQTSPPE SNLVYWLWEK QKVMAIVRID TQNNPVYQVS FSPQDNTQVC VTGNGMFKLL
   181  RFAEGTLKQT SFQRGEPQNY LAHTWVADDK IVVGTDTGKL FLFESGDQRW ETSIMVKEPT
   241  NGSKSLDVIQ ESESLIEFPP VSSPLPSYEQ MVAASSHSQM SMPQVFAIAA YSKGFACSAG
   301  PGRVLLFEKM EEKDFYRESR EIRIPVDPQS NDPSQSDKQD VLCLCFSPSE ETLVASTSKN
   361  QLYSITMSLT EISKGEPAHF EYLMYPLHSA PITGLATCIR KPLIATCSLD RSIRLWNYET
   421  NTLELFKEYQ EEAYSISLHP SGHFIVVGFA DKLRLMNLLI DDIRSFKEYS VRGCGECSFS
   481  NGGHLFAAVN GNVIHVYTTT SLENISSLKG HTGKIRSIVW NADDSKLISG GTDGAVYEWN
   541  LSTGKRETEC VLKSCSYNCV TVSPDAKIIF AVGSDHTLKE IADSLILREI SAFDVTYTAI
   601  VISHSGRMMF VGTSVGTIRA MKYPLPLQKE FNEYQAHAGP ITKMLLTFDD QFLLTAAEDG
   661  CLFTWKVFDK DGRGIKRERE VGFAEEVLVT KTDMEEKAQV MLELKTRVEE LKMENEYQLR
   721  LKDMNYSEKI KELTDKFIQE MESLKTKNQV LRTEKEKQDV YHHEHIEDLL DKQSRELQDM
   781  ECCNNQKLLL EYEKYQELQL KSQRMQEEYE KQLRDNDETK SQALEELTEF YEAKLQEKTT
   841  LLEEAQEDVR QQLREFEETK KQIEEDEDRE IQDIKTKYEK KLRDEKESNL RLKGETGIMR
   901  KKFSSLQKEI EERTNDIETL KGEQMKLQGV IKSLEKDIQG LKREIQERDE TIQDKEKRIY
   961  DLKKKNQELG KFKFVLDYKI KELKKQIEPR ENEIRVMKEQ IQEMEAELEN FHKQNTQLEL
  1021  NITELWQKLR ATDQEMRRER QKERDLEALV KRFKTDLHNC VAYIQEPRLL KEKVRGLFEK
  1081  YVQRADMVEI AGLNTDLQQE YTRQREHLER NLATLKKKVV KEGELHRTDY VRIMQENVSL
  1141  IKEINELRRE LKFTRSQVYD LEAALKLTKK VRPQEVSETE PSRDMLSTAP TARLNEQEET
  1201  GRIIEMQRLE IQRLRDQIQE QEQVTGFHTL AGVRLPSLSN SEVDLEVKTN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP57 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): 0.37
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 22 nTPM
testis: 15 nTPM
choroid plexus: 13 nTPM
epididymis: 2.7 nTPM
lung: 2.3 nTPM
basal ganglia: 2.2 nTPM

Single-cell type

respiratory ciliated cells: 233 nCPM
fallopian tube ciliated cells: 188 nCPM
endometrial ciliated cells: 118 nCPM
ependymal cells: 115 nCPM
epididymal efferent duct ciliated cells: 87 nCPM
late primary spermatocytes: 75 nCPM

Immune cell

non-classical monocyte: 1.2 nTPM
naive B-cell: 0.3 nTPM
intermediate monocyte: 0.2 nTPM
myeloid DC: 0.2 nTPM
plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM

Brain region

choroid plexus: 23 nTPM
midbrain: 11 nTPM
medulla oblongata: 8.1 nTPM
spinal cord: 6.2 nTPM
pons: 3.8 nTPM
hypothalamus: 3.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP57.

Disease | AllUniProt

Conditions CFAP57 is implicated in, by any mechanism.

Spermatogenic failure 95 (SPGF95) MIM:620917

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 159 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 95
Primary ciliary dyskinesia

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): 1.11
gnomAD pLI: 0
DepMap mean gene effect: -0.19
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
Quinoprotein alcohol dehydrogenase-like superfamily
WD40/YVTN repeat-like-containing domain superfamily
EML-like, second beta-propeller domain
Echinoderm microtubule-associated protein second beta-propeller
Cilia- and flagella-associated protein 57

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP57 as an antibody target. Whether an autoantibody or antibody against CFAP57 could matter depends on whether native CFAP57 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP57 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 CFAP57 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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