Seroatlas · Human Serome Atlas

CEP63

Centrosomal protein of 63 kDa

Also known as: CEP63_HUMAN, FLJ13386

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

Protein identityUniProt · HPA

UniProt accession: Q96MT8
Gene: CEP63
Ensembl: ENSG00000182923
Chromosome: 3
Canonical length: 703 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

703 residues, UniProt reviewed canonical sequence.

>Q96MT8|CEP63
     1  MEALLEGIQN RGHGGGFLTS CEAELQELMK QIDIMVAHKK SEWEGRTHAL ETCLKIREQE
    61  LKSLRSQLDV THKEVGMLHQ QVEEHEKIKQ EMTMEYKQEL KKLHEELCIL KRSYEKLQKK
   121  QMREFRGNTK NHREDRSEIE RLTAKIEEFR QKSLDWEKQR LIYQQQVSSL EAQRKALAEQ
   181  SEIIQAQLVN RKQKLESVEL SSQSEIQHLS SKLERANDTI CANELEIERL TMRVNDLVGT
   241  SMTVLQEQQQ KEEKLRESEK LLEALQEEKR ELKAALQSQE NLIHEARIQK EKLQEKVKAT
   301  NTQHAVEAIR PREESLAEKK YTSQGQGDLD SVLSQLNFTH TSEDLLQAEV TCLEGSLESV
   361  SATCKQLSQE LMEKYEELKR MEAHNNEYKA EIKKLKEQIL QGEQSYSSAL EGMKMEISHL
   421  TQELHQRDIT IASTKGSSSD MEKRLRAEMQ KAEDKAVEHK EILDQLESLK LENRHLSEMV
   481  MKLELGLHEA KEISLADLQE NYIEALNKLV SENQQLQKDL MNTKSQLEIS TQMCKKQNDR
   541  IFKPTHSRTT EFKNTEFKPT HGQHRHDGIK TEHYKTDLHS PRGQASDSIN PMSRVLSPLS
   601  PQISPCSSTR SLTSYSLCKT HSLPSALDTN EANFSDTMSE SMNDQEEFIS SCSLPVSPLG
   661  SIATRFLEEE ELRSHHILER LDAHIEELKR ESEKTVRQFT ALK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP63 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): 0.54
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 36 nTPM
testis: 33 nTPM
tongue: 25 nTPM
thymus: 24 nTPM
heart muscle: 23 nTPM
bone marrow: 20 nTPM

Single-cell type

microglia: 100 nCPM
oligodendrocytes: 90 nCPM
oligodendrocyte progenitor cells: 80 nCPM
bergmann glia: 66 nCPM
brain excitatory neurons: 63 nCPM
ependymal cells: 62 nCPM

Immune cell

neutrophil: 123 nTPM
basophil: 63 nTPM
eosinophil: 28 nTPM
non-classical monocyte: 22 nTPM
myeloid DC: 20 nTPM
naive B-cell: 19 nTPM

Brain region

white matter: 23 nTPM
cerebral cortex: 20 nTPM
hypothalamus: 20 nTPM
medulla oblongata: 20 nTPM
cerebellum: 20 nTPM
thalamus: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP63.

Disease | AllUniProt

Conditions CEP63 is implicated in, by any mechanism.

Seckel syndrome 6 (SCKL6) MIM:614728

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 358 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): 1.26
gnomAD pLI: 0
gnomAD missense Z: -0.1
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

molecular adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP63 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 CEP63 as an antibody target. Whether an autoantibody or antibody against CEP63 could matter depends on whether native CEP63 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP63 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 CEP63 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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