Seroatlas · Human Serome Atlas

CEP57

Centrosomal protein of 57 kDa

Also known as: CEP57_HUMAN, KIAA0092, Translokin, TSP57

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

Protein identityUniProt · HPA

UniProt accession: Q86XR8
Gene: CEP57
Ensembl: ENSG00000166037
Chromosome: 11
Canonical length: 500 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Centriolar satellite,Centrosome,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>Q86XR8|CEP57
     1  MAAASVSAAS GSHLSNSFAE PSRSNGSMVR HSSSPYVVYP SDKPFLNSDL RRSPSKPTLA
    61  YPESNSRAIF SALKNLQDKI RRLELERIQA EESVKTLSRE TIEYKKVLDE QIQERENSKN
   121  EESKHNQELT SQLLAAENKC NLLEKQLEYM RNMIKHAEME RTSVLEKQVS LERERQHDQT
   181  HVQSQLEKLD LLEQEYNKLT TMQALAEKKM QELEAKLHEE EQERKRMQAK AAELQTGLET
   241  NRLIFEDKAT PCVPNARRIK KKKSKPPEKK SSRNYFGAQP HYRLCLGDMP FVAGKSTSPS
   301  HAVVANVQLV LHLMKQHSKA LCNDRVINSI PLAKQVSSRG GKSKKLSVTP PSSNGINEEL
   361  SEVLQTLQDE FGQMSFDHQQ LAKLIQESPT VELKDKLECE LEALVGRMEA KANQITKVRK
   421  YQAQLEKQKL EKQKKELKAT KKTLDEERNS SSRSGITGTT NKKDFMKLRP GEKRRKNLQL
   481  LKDMQSIQNS LQSSSLCWDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP57 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: 42 nTPM

Expression across tissuesHPA

Tissue

liver: 42 nTPM
thymus: 32 nTPM
duodenum: 31 nTPM
tonsil: 29 nTPM
lymph node: 28 nTPM
bone marrow: 27 nTPM

Single-cell type

early spermatids: 556 nCPM
late spermatids: 553 nCPM
late primary spermatocytes: 248 nCPM
retinal bipolar cells: 159 nCPM
sertoli cells: 151 nCPM
erythrocyte progenitors: 150 nCPM

Immune cell

T-reg: 34 nTPM
NK-cell: 26 nTPM
MAIT T-cell: 26 nTPM
memory CD4 T-cell: 26 nTPM
naive CD4 T-cell: 25 nTPM
eosinophil: 24 nTPM

Brain region

cerebellum: 23 nTPM
choroid plexus: 18 nTPM
medulla oblongata: 18 nTPM
white matter: 17 nTPM
hypothalamus: 16 nTPM
cerebral cortex: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP57.

Disease | AllUniProt

Conditions CEP57 is implicated in, by any mechanism.

Mosaic variegated aneuploidy syndrome 2 (MVA2) MIM:614114

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 924 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): 0.48
gnomAD pLI: 0.07
gnomAD missense Z: -0.46
DepMap mean gene effect: -0.14
DepMap dependency class: selective

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 CEP57 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

FGF2
RAP80
CEP63

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEP57 as an antibody target. Whether an autoantibody or antibody against CEP57 could matter depends on whether native CEP57 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP57 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 CEP57 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...