Seroatlas · Human Serome Atlas

CFAP74

Cilia- and flagella-associated protein 74

Also known as: C1orf222, CFA74_HUMAN, FLJ45476, KIAA1751

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

Protein identityUniProt · HPA

UniProt accession: Q9C0B2
Gene: CFAP74
Ensembl: ENSG00000142609
Chromosome: 1
Canonical length: 1584 aa
Protein class: Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1584 residues, UniProt reviewed canonical sequence.

>Q9C0B2|CFAP74
     1  MEDDGSLLPE DELLADALLL EDERDELEDP EFDIKCLLQE AEDDVDPGHS SSVKELDTDA
    61  DKLKKKTAED RTQAFHLRQN LSALDKMHEE QELFTEKMRG ELRACRQRRD LIDKQQEAVA
   121  AEIATEEEAG NMAAVGRLQA VSRRLFAELE NERDLQSRTE AVLKESENTM WHIEIQEGRL
   181  EAFRTADREE VEATGRRLQV RAAEQLCREQ EALGKVERNR LLRIRKSLNT QKELGLRHQK
   241  LLEDARKNHK VAVRFLKASL GRIREQEKKE EMECHEYMRR RMDAVVALKG SISANRDTLR
   301  KFQAWDRAKA ELAEQRVQAE KKAILAQGRD AFRHLVHQRR RQELEAQKRA FEEEQKLRKQ
   361  EIISRILKEE AEEEKRKKQH PPTSARHRLT LRDKTWNYIS DFCKKTTVPT NTYTLDYEAA
   421  AGPGPSRLLE VVSSELIQGD PGASSEEETL AEPEISGLWN EDYKPYQVPK EDVDRKPVGG
   481  TKMDKDILER TVERLRSRVV HKQVVWGREF QGRPFNSKPE LLHFQDFDIG KVYKKKITLV
   541  NTTYTINYCK LVGVEEHLRD FIHVDFDPPG PLSAGMSCEV LVTFKPMINK DLEGNISFLA
   601  QTGEFSVPLK CSTKKCSLSL DKELIDFGSY VVGETTSRTI TLTNVGGLGT TFKFLPASEP
   661  CEMDDSQSAL KLSSLLTYED KSLYDKAATS FSEQQLEGTE SSQADMQSRK ELEKLDKEQE
   721  EEQPAEPERL TTVIPPSEEQ TEITLGEVTE GEIGPFSSIK VPIVFTPVVP GDVQARFKVT
   781  FKNPQCPTLH FRVVGVAIDV PVWVPKPSVD LKICMYDRLY QDSVLVHTRS KAALRLKFEV
   841  CKELRAHLEL LPKTGYIQAQ SSYSVQLKFL PRHSLPEDAG RYFDKETRVL EAPMTIWVAD
   901  QNKPVGFTVH AIVTTSDLEL SPSEVDFGYC TIYEAIRTEI SLHNHSLLPQ EFGFVRLPKF
   961  VDVQPNDGFG TILPLETLQF CVIFQPTKAE EHRFQLTCKS EINRCFKLSC RAVGVHPPLE
  1021  LSHYQIKFAA TALYDTSVAT VYVINSHLSM SSPTHSKPRI GSEDASPMGP TSFEFLLPPD
  1081  SPITISPSVG TVWPGKRCLV QVAFRPVLPE KLIRQEALPL LNKEMETKSF RKNMAPQRKD
  1141  LHGLSFSVLR AQNRDKLFKV SVPHVLEMRK RELRPSSDEY QAARATLLRA FQAKFDTFVV
  1201  PCVVASGDIK DRKGSEPLSF SPHNTLYLEL WCPTVAPSVV VTSHKGKTIF NFGDVAVGHR
  1261  SIKKISIQNV SPEDLALDFS LLNPNGPFVL LNHSSLLRAG GTQVLVLSFS PHESILAQET
  1321  LDIITKRGTL TLTLMGTGVA SMITCSIEGS VLNMGYVIAG ESVSSGFKLQ NNSLLPIKFS
  1381  MHLDSLSSTR GRGQQQLPQF LSSPSQRTEV VGTQNLNGQS VFSVAPVKGV MDPGKTQDFT
  1441  VTFSPDHESL YFSDKLQVVL FEKKISHQIL LKGAACQHMM FVEGGDPLDV PVESLTAIPV
  1501  FDPRHREEAE ELRPILVTLD YIQFDTDTPA PPATRELQVG CIRTTQPSPK KPDHPLMVSA
  1561  LLQLRGDVKE TYKVIFVAQV LTGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP74 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: 6.5 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 6.5 nTPM
testis: 4.8 nTPM
choroid plexus: 3.6 nTPM
skin: 2.9 nTPM
lung: 1.3 nTPM
adrenal gland: 1.2 nTPM

Single-cell type

respiratory ciliated cells: 186 nCPM
ependymal cells: 112 nCPM
fallopian tube ciliated cells: 94 nCPM
endometrial ciliated cells: 76 nCPM
choroid plexus epithelial cells: 73 nCPM
epididymal efferent duct ciliated cells: 60 nCPM

Immune cell

classical monocyte: 0.2 nTPM
neutrophil: 0.2 nTPM
NK-cell: 0.2 nTPM
eosinophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM

Brain region

choroid plexus: 17 nTPM
midbrain: 15 nTPM
cerebellum: 15 nTPM
white matter: 14 nTPM
medulla oblongata: 13 nTPM
pons: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP74.

Disease | AllUniProt

Conditions CFAP74 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) MIM:620197

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 158 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ciliary dyskinesia, primary, 49, without situs inversus
CFAP74-related disorder

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): 0.79
gnomAD pLI: 0

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

axoneme assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

Immunoglobulin-like fold
CFAP74, second Ig-like domain
CFAP74, third Ig-like domain
CFAP74, fourth Ig-like domain
CFAP74 second Ig-like domain
CFAP74 first Ig-like domain
CFAP74 third Ig-like domain
CFAP74 forth Ig-like domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP74 as an antibody target. Whether an autoantibody or antibody against CFAP74 could matter depends on whether native CFAP74 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP74 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 CFAP74 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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