Seroatlas · Human Serome Atlas

CFAP53

Cilia- and flagella-associated protein 53

Also known as: CCDC11, CFA53_HUMAN, FLJ32743

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

Protein identityUniProt · HPA

UniProt accession: Q96M91
Gene: CFAP53
Ensembl: ENSG00000172361
Chromosome: 18
Canonical length: 514 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear membrane,Basal body,Cytosol

OverviewNCBI Gene

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

514 residues, UniProt reviewed canonical sequence.

>Q96M91|CFAP53
     1  MYSQRFGTVQ REVKGPTPKV VIVRSKPPKG QGAEHHLERI RRSHQKHNAI LASIKSSERD
    61  RLKAEWDQHN DCKILDSLVR ARIKDAVQGF IINIEERRNK LRELLALEEN EYFTEMQLKK
   121  ETIEEKKDRM REKTKLLKEK NEKERQDFVA EKLDQQFRER CEELRVELLS IHQKKVCEER
   181  KAQIAFNEEL SRQKLVEEQM FSKLWEEDRL AKEKREAQEA RRQKELMENT RLGLNAQITS
   241  IKAQRQATQL LKEEEARLVE SNNAQIKHEN EQDMLKKQKA KQETRTILQK ALQERIEHIQ
   301  QEYRDEQDLN MKLVQRALQD LQEEADKKKQ KREDMIREQK IYHKYLAQRR EEEKAQEKEF
   361  DRILEEDKAK KLAEKDKELR LEKEARRQLV DEVMCTRKLQ VQEKLQREAK EQEERAMEQK
   421  HINESLKELN CEEKENFARR QRLAQEYRKQ LQMQIAYQQQ SQEAEKEEKR REFEAGVAAN
   481  KMCLDKVQEV LSTHQVLPQN IHPMRKACPS KLPP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP53 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): 0.5
Highest tissue expression: 77 nTPM

Expression across tissuesHPA

Tissue

testis: 77 nTPM
fallopian tube: 27 nTPM
choroid plexus: 19 nTPM
basal ganglia: 5.5 nTPM
epididymis: 5.4 nTPM
hypothalamus: 4.9 nTPM

Single-cell type

late primary spermatocytes: 1,366 nCPM
late spermatids: 742 nCPM
early spermatids: 699 nCPM
respiratory ciliated cells: 539 nCPM
fallopian tube ciliated cells: 446 nCPM
endometrial ciliated cells: 415 nCPM

Immune cell

naive B-cell: 0.5 nTPM
basophil: 0.4 nTPM
naive CD4 T-cell: 0.2 nTPM
NK-cell: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM
T-reg: 0.2 nTPM

Brain region

choroid plexus: 15 nTPM
midbrain: 14 nTPM
medulla oblongata: 13 nTPM
spinal cord: 9 nTPM
cerebellum: 7.9 nTPM
white matter: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP53.

Disease | AllUniProt

Conditions CFAP53 is implicated in, by any mechanism.

Heterotaxy, visceral, 6, autosomal (HTX6) MIM:614779

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 169 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Heterotaxy, visceral, 6, autosomal
Heterotaxy
Dextrocardia
CFAP53-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): 1.34
gnomAD pLI: 0
DepMap mean gene effect: 0.08
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP53 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 CFAP53 as an antibody target. Whether an autoantibody or antibody against CFAP53 could matter depends on whether native CFAP53 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP53 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 CFAP53 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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