InnateDB Protein
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IDBP-68515.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CEP57
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Protein Name
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centrosomal protein 57kDa
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Synonyms
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MVA2; PIG8; TSP57;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000317487
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InnateDB Gene
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IDBG-68511 (CEP57)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
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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.
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Tissue Specificity |
Ubiquitous. {ECO:0000269PubMed:12717444}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 102 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
102
[view]
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Protein-Protein |
99
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR024957
Cep57 centrosome microtubule-binding domain
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PFAM |
PF06657
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q86XR8
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PhosphoSite |
PhosphoSite-Q86XR8
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TrEMBL |
F5H1B0
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UniProt Splice Variant |
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Entrez Gene |
9702
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UniGene |
Hs.708311
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RefSeq |
NP_001230706
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HUGO |
HGNC:30794
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OMIM |
607951
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CCDS |
CCDS58166
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HPRD |
16261
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IMGT |
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EMBL |
AK291245
AK293277
AP001877
AY225092
AY239292
BC001233
BC029385
BC039711
D42054
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GenPept |
AAH01233
AAH29385
AAH39711
AAO73938
AAP72184
BAA07654
BAF83934
BAG56806
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