InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP57

Summary

InnateDB Protein

IDBP-68513.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CEP57

Protein Name

centrosomal protein 57kDa

Synonyms

MVA2; PIG8; TSP57;

Species

Homo sapiens

Ensembl Protein

ENSP00000317902

InnateDB Gene

IDBG-68511 (CEP57)

Protein Structure

UniProt Annotation

Function

Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring- like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. {ECO:0000269PubMed:22321063}.

Subcellular Localization

Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Disease Associations

Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269PubMed:21552266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:12717444}.

Comments

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