InnateDB Protein
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IDBP-11251.7
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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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CEP152
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Protein Name
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centrosomal protein 152kDa
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Synonyms
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MCPH4; MCPH9; SCKL5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000321000
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InnateDB Gene
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IDBG-11247 (CEP152)
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Protein Structure
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Function |
Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles. {ECO:0000269PubMed:20852615, ECO:0000269PubMed:21059844, ECO:0000269PubMed:21131973}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:20598275, ECO:0000269PubMed:21059844, ECO:0000269PubMed:21131973, ECO:0000269PubMed:21983783}. Note=Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Localizes to the deuterosome.
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Disease Associations |
Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269PubMed:20598275}. Note=The disease is caused by mutations affecting the gene represented in this entry.Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269PubMed:21131973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 13 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
0
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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 |
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PFAM |
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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 |
O94986
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PhosphoSite |
PhosphoSite-O94986
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TrEMBL |
H0YN91
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UniProt Splice Variant |
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Entrez Gene |
22995
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UniGene |
Hs.734263
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RefSeq |
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HUGO |
HGNC:29298
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OMIM |
613529
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CCDS |
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HPRD |
16778
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IMGT |
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EMBL |
AB020719
AC012379
AC022084
AC084757
BC069186
BC117182
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GenPept |
AAH69186
AAI17183
BAA74935
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