Seroatlas · Human Serome Atlas

CEP83

Centrosomal protein of 83 kDa

Also known as: CCDC41, CEP83_HUMAN, NPHP18, NY-REN-58

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

Protein identityUniProt · HPA

UniProt accession
Q9Y592
Gene
CEP83
Ensembl
ENSG00000173588
Chromosome
12
Canonical length
701 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles,Primary cilium,Primary cilium transition zone

OverviewNCBI Gene

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

701 residues, UniProt reviewed canonical sequence.

>Q9Y592|CEP83
     1  MVVSTFTDMD TFPNNFPPGG DSGLTGSQSE FQKMLIDERL RCEHHKANYQ TLKAEHTRLQ
    61  NEHVKLQNEL KHLFNEKQTQ QEKLQLLLEE LRGELVEKTK DLEEMKLQIL TPQKLELLRA
   121  QIQQELETPM RERFRNLDEE VEKYRAVYNK LRYEHTFLKS EFEHQKEEYA RILDEGKIKY
   181  ESEIARLEED KEELRNQLLN VDLTKDSKRV EQLAREKVYL CQKLKGLEAE VAELKAEKEN
   241  SEAQVENAQR IQVRQLAEMQ ATVRSLEAEK QSANLRAERL EKELQSSSEQ NTFLINKLHK
   301  AEREINTLSS KVKELKHSNK LEITDIKLET ARAKSELERE RNKIQSELDG LQSDNEILKA
   361  AVEHHKVLLV EKDRELIRKV QAAKEEGYQK LVVLQDEKLE LENRLADLEK MKVEHDVWRQ
   421  SEKDQYEEKL RASQMAEEIT RKELQSVRLK LQQQIVTIEN AEKEKNENSD LKQQISSLQI
   481  QVTSLAQSEN DLLNSNQMLK EMVERLKQEC RNFRSQAEKA QLEAEKTLEE KQIQWLEEKH
   541  KLHERITDRE EKYNQAKEKL QRAAIAQKKR KSLHENKLKR LQEKVEVLEA KKEELETENQ
   601  VLNRQNVPFE DYTRLQKRLK DIQRRHNEFR SLILVPNMPP TASINPVSFQ SSAMVPSMEL
   661  PFPPHMQEEQ HQRELSLLRK RLEELETTQR KQLEELGSSG E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP83 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.52
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • testis: 17 nTPM
  • heart muscle: 14 nTPM
  • fallopian tube: 11 nTPM
  • pancreas: 8.8 nTPM
  • ovary: 7.5 nTPM
  • adrenal gland: 7.4 nTPM

Single-cell type

  • endometrial ciliated cells: 641 nCPM
  • ependymal cells: 462 nCPM
  • respiratory ciliated cells: 360 nCPM
  • fallopian tube ciliated cells: 261 nCPM
  • choroid plexus epithelial cells: 207 nCPM
  • innate lymphoid cells: 197 nCPM

Immune cell

  • plasmacytoid DC: 6.1 nTPM
  • myeloid DC: 5.7 nTPM
  • T-reg: 5.2 nTPM
  • naive B-cell: 4.8 nTPM
  • memory B-cell: 4.7 nTPM
  • NK-cell: 4.6 nTPM

Brain region

  • choroid plexus: 15 nTPM
  • midbrain: 13 nTPM
  • white matter: 12 nTPM
  • medulla oblongata: 11 nTPM
  • spinal cord: 11 nTPM
  • cerebellum: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP83.

Disease | AllUniProt

Conditions CEP83 is implicated in, by any mechanism.

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 553 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)
0.89
gnomAD pLI
0
DepMap mean gene effect
0.11
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP83 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 CEP83 as an antibody target. Whether an autoantibody or antibody against CEP83 could matter depends on whether native CEP83 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP83 is annotated at the cell surface, where native CEP83 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CEP83 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CEP83. 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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