Seroatlas · Human Serome Atlas

CFAP298

Cilia- and flagella-associated protein 298

Also known as: C21orf48, C21orf59, CF298_HUMAN, CILD26, DNAAF16, FBB18, FLJ20467, Kur

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

Protein identityUniProt · HPA

UniProt accession: P57076
Gene: CFAP298
Ensembl: ENSG00000159079
Chromosome: 21
Canonical length: 290 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Microtubules,Primary cilium transition zone,Centrosome,Basal body,Cytosol,Principal piece

OverviewNCBI Gene

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>P57076|CFAP298
     1  MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE LAEHGIFLPP
    61  NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN GQAPNEKMKQ VLKKTIEEAK
   121  AIISKKQVEA GVCVTMEMVK DALDQLRGAV MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG
   181  LNVIKEAEAQ LWWAAKELRR TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK
   241  QLMLYYHRRQ EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP298 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: 66 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 66 nTPM
cerebellum: 44 nTPM
pituitary gland: 40 nTPM
hypothalamus: 35 nTPM
testis: 34 nTPM
fallopian tube: 32 nTPM

Single-cell type

late primary spermatocytes: 309 nCPM
fallopian tube ciliated cells: 171 nCPM
respiratory ciliated cells: 135 nCPM
epididymal efferent duct ciliated cells: 128 nCPM
endometrial ciliated cells: 101 nCPM
early primary spermatocytes: 99 nCPM

Immune cell

naive B-cell: 25 nTPM
plasmacytoid DC: 24 nTPM
T-reg: 22 nTPM
memory B-cell: 21 nTPM
naive CD4 T-cell: 20 nTPM
NK-cell: 20 nTPM

Brain region

choroid plexus: 36 nTPM
cerebellum: 28 nTPM
hypothalamus: 22 nTPM
midbrain: 20 nTPM
cerebral cortex: 19 nTPM
hippocampal formation: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP298.

Disease | AllUniProt

Conditions CFAP298 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 26 (CILD26) MIM:615500

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 180 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia 26
Heterotaxy

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): 1.06
gnomAD pLI: 0
DepMap mean gene effect: -1.26
DepMap dependency class: common

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cilia- and flagella-associated protein 298
Cilia- and flagella-associated protein 298

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP298 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ZMYND10

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP298 as an antibody target. Whether an autoantibody or antibody against CFAP298 could matter depends on whether native CFAP298 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP298 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 CFAP298 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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