Seroatlas · Human Serome Atlas

CEP41

Centrosomal protein of 41 kDa

Also known as: CEP41_HUMAN, DKFZp762H1311, FLJ22445, JBTS15, TSGA14

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

Protein identityUniProt · HPA

UniProt accession
Q9BYV8
Gene
CEP41
Ensembl
ENSG00000106477
Chromosome
7
Canonical length
373 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>Q9BYV8|CEP41
     1  MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR
    61  LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP
   121  SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD
   181  RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC
   241  ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
   301  RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR
   361  SLSSGHLQGK PWK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP41 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)
0.49
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • testis: 47 nTPM
  • salivary gland: 17 nTPM
  • fallopian tube: 8.8 nTPM
  • choroid plexus: 8.5 nTPM
  • thymus: 8 nTPM
  • retina: 7.2 nTPM

Single-cell type

  • early spermatids: 562 nCPM
  • late primary spermatocytes: 451 nCPM
  • late spermatids: 206 nCPM
  • ependymal cells: 88 nCPM
  • respiratory ciliated cells: 77 nCPM
  • fallopian tube ciliated cells: 72 nCPM

Immune cell

  • naive CD8 T-cell: 14 nTPM
  • NK-cell: 11 nTPM
  • naive CD4 T-cell: 8.4 nTPM
  • myeloid DC: 8.3 nTPM
  • basophil: 7.9 nTPM
  • gdT-cell: 7.5 nTPM

Brain region

  • choroid plexus: 22 nTPM
  • midbrain: 21 nTPM
  • white matter: 16 nTPM
  • pons: 14 nTPM
  • hypothalamus: 14 nTPM
  • cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP41.

Disease | AllUniProt

Conditions CEP41 is implicated in, by any mechanism.

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 483 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.92
gnomAD pLI
0
gnomAD missense Z
0.35
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEP41 as an antibody target. Whether an autoantibody or antibody against CEP41 could matter depends on whether native CEP41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP41 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 CEP41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CEP41. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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