Homo sapiens Gene: CEP57
Summary
InnateDB Gene IDBG-68511.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CEP57
Gene Name centrosomal protein 57kDa
Synonyms MVA2; PIG8; TSP57
Species Homo sapiens
Ensembl Gene ENSG00000166037
Encoded Proteins
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
centrosomal protein 57kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:95789965-95832693
Strand Forward strand
Band q21
Transcripts
ENST00000325542 ENSP00000317902
ENST00000325486 ENSP00000317487
ENST00000537677 ENSP00000441392
ENST00000538095 ENSP00000443866
ENST00000544522 ENSP00000438065
ENST00000539855 ENSP00000437422
ENST00000541365 ENSP00000445821
ENST00000535497 ENSP00000442481
ENST00000540830 ENSP00000440996
ENST00000538658 ENSP00000445706
ENST00000536587
ENST00000541768
ENST00000537093 ENSP00000444749
ENST00000535224 ENSP00000440256
ENST00000538158
ENST00000541150 ENSP00000443436
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 102 experimentally validated interaction(s) in this database.
Experimentally validated
Total 102 [view]
Protein-Protein 99 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0017134 fibroblast growth factor binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043015 gamma-tubulin binding
Biological Process
GO:0000060 protein import into nucleus, translocation
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0007286 spermatid development
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0034453 microtubule anchoring
GO:0051260 protein homooligomerization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005874 microtubule
GO:0015630 microtubule cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.101014 Hs.708311
RefSeq NM_001243776 NM_001243777 NM_014679
HUGO
OMIM
CCDS CCDS58166 CCDS58167 CCDS8304
HPRD 16261
IMGT
EMBL
GenPept
RNA Seq Atlas