Seroatlas · Human Serome Atlas

CFAP43

Cilia- and flagella-associated protein 43

Also known as: bA373N18.2, C10orf79, CFA43_HUMAN, FLJ22944, FLJ36006, WDR96

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

Protein identityUniProt · HPA

UniProt accession: Q8NDM7
Gene: CFAP43
Ensembl: ENSG00000197748
Chromosome: 10
Canonical length: 1665 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear membrane,Cytosol,Flagellar centriole,Mid piece,Principal piece

OverviewNCBI Gene

This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

1665 residues, UniProt reviewed canonical sequence.

>Q8NDM7|CFAP43
     1  MAQGRERDEG PHSAGGASLS VRWVQGFPKQ NVHFVNDNTI CYPCGNYVIF INIETKKKTV
    61  LQCSNGIVGV MATNIPCEVV AFSDRKLKPL IYVYSFPGLT RRTKLKGNIL LDYTLLSFSY
   121  CGTYLASYSS LPEFELALWN WESSIILCKK SQPGMDVNQM SFNPMNWRQL CLSSPSTVSV
   181  WTIERSNQEH CFRARSVKLP LEDGSFFNET DVVFPQSLPK DLIYGPVLPL SAIAGLVGKE
   241  AETFRPKDDL YPLLHPTMHC WTPTSDLYIG CEEGHLLMIN GDTLQVTVLN KIEEESPLDR
   301  RNFISPVTLV YQKEGVLASG IDGFVYSFII KDRSYMIEDF LEIERPVEHM TFSPNYTVLL
   361  IQTDKGSVYI YTFGKEPTLN KVLDACDGKF QAIDFITPGT QYFMTLTYSG EICVWWLEDC
   421  ACVSKIYLNT LATVLACCPS SLSAAVGTED GSVYFISVYD KESPQVVHKA FLSESSVQHV
   481  VYDQQGIFLL VGTAEGKVFI INANSSSSFQ IIGFTEVAKD ILQISTVSLL ETDIVEVMVL
   541  SSLPEAGRSR LEMFTLPTLL PQVSTTFADE RGRLKDEIIH KYLYELEHAL SSAVLGFQSN
   601  QIYGFCSQVP YICSYLLPEE EHTGIYILKP YKKVQSRQYG PGLLYLSSHG LWLITIAKCG
   661  ILCIRDVYTL ETFAWCRSHS HQGHGIQSMR ISMDGQNILV NGRDDGTLVY LKWKRFGGHL
   721  ASEILDYYQK LLISLSSAMD KENHYLSTTP KVSVDLGSDS EHTKQKASTD LSQDELVLTD
   781  VKKEIPWIQQ KSQEAIKKEV NLFSKKRKEI KQGIKSLSKT ILNMMEENDK LENIAKLDQQ
   841  EFGLDLEELE RLHDESQEEV AKMIKDVEMH NLAKSYLAEL IKEECWNSMA VKGRALKCFH
   901  IPCVVENFPM KARTVEELKE LERVLQQKKI EAECLKLRKE IVEAQSGVKL IKQRHEEDDE
   961  EEEEEDKTVK YSNLPNYLLG SLSTDFGVDT SLLSSQLELH SREEKINQII LLKDIIYKVK
  1021  TVFNNEFDAA YKQKEFEIAR VKERNVRIRE IILDLELEEA VWQPEFEDCE KPERTLVVQD
  1081  EEITAHKHIK PWHKAKELIV NHEKEHWLLI QDASTRLRAL MDMMGGVLEV KKEDILRMVI
  1141  PQPAFMAKPD AVWTEEERKQ FKDYEKKVKE LNEERDKYRK SLEAELKKLQ NSIQESTQAF
  1201  DEHLKRLFER RVKAEMVTNQ EELKISNLAF SLLLDEELSS REKFLNNYLT RKQHEKSQTS
  1261  EAVRKSREDL DVCKEHYDNL LAEDKVMDRS FKKEFSEIPG HQVDILYKLF KRRPRISKQK
  1321  THSETTSVVP FGELPGSGKL NKDAFAQLMK AMDELDNISN MPEGLDPLVW NHFCMTRRAK
  1381  VENEQKVKQK AADLLEMATF LQKRVEEEEK VQQEIERVFH ELILLQEEKV RFQLNLTIQI
  1441  LLKQGQVELE NFQLVLEYSD AILINKNIIE DLNSVIRTQG QKKVASMMES KDVHKRILQI
  1501  EWEHKKMEME REDLNQKAWD IQMLFFSRDR QKYLNEPNYE ALISIQIGIM EQTIAVLDKM
  1561  HKKNVENCKK LLKKLGKFSN QKDIANYALS CNLREELVAV SERKDICNAM GSKLTCEKIV
  1621  KERYENMMQQ QKLTNISKQQ AEQISILQTE VERLRMKTFP ALVQM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP43 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: 94 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 94 nTPM
testis: 54 nTPM
fallopian tube: 46 nTPM
hypothalamus: 11 nTPM
retina: 9.9 nTPM
pituitary gland: 9.7 nTPM

Single-cell type

ependymal cells: 1,938 nCPM
respiratory ciliated cells: 1,174 nCPM
choroid plexus epithelial cells: 932 nCPM
fallopian tube ciliated cells: 812 nCPM
endometrial ciliated cells: 655 nCPM
epididymal efferent duct ciliated cells: 648 nCPM

Immune cell

T-reg: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

choroid plexus: 167 nTPM
midbrain: 75 nTPM
medulla oblongata: 74 nTPM
spinal cord: 51 nTPM
pons: 30 nTPM
white matter: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP43.

Disease | AllUniProt

Conditions CFAP43 is implicated in, by any mechanism.

Spermatogenic failure 19 (SPGF19) MIM:617592
Hydrocephalus, normal pressure, 1 (HYDNP1) MIM:236690

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 327 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 19
Normal pressure hydrocephalus
CFAP43-related disorder
Oligospermia
Reduced sperm motility

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): 0.7
gnomAD pLI: 0
DepMap mean gene effect: -0.06
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/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Cfap43 coiled coil

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP43 as an antibody target. Whether an autoantibody or antibody against CFAP43 could matter depends on whether native CFAP43 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP43 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 CFAP43 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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