InnateDB Protein
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IDBP-82895.7
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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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CDK5RAP2
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Protein Name
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CDK5 regulatory subunit associated protein 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354065
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InnateDB Gene
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IDBG-82889 (CDK5RAP2)
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Protein Structure
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Function |
Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. {ECO:0000250, ECO:0000269PubMed:17959831, ECO:0000269PubMed:18042621, ECO:0000269PubMed:19282672, ECO:0000269PubMed:19553473}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Golgi apparatus. Cytoplasm. Note=Found in the pericentriolar region adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes to microtubule plus ends.
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Disease Associations |
Microcephaly 3, primary, autosomal recessive (MCPH3) [MIM:604804]: 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:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:10721722}.
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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 40 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
40
[view]
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Protein-Protein |
40
[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 |
IPR012943
Spindle associated
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PFAM |
PF07989
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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 |
Q96SN8
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PhosphoSite |
PhosphoSite-Q96SN8
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TrEMBL |
F8WBJ0
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UniProt Splice Variant |
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Entrez Gene |
55755
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UniGene |
Hs.269560
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RefSeq |
NP_001258968
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HUGO |
HGNC:18672
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OMIM |
608201
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CCDS |
CCDS75888
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HPRD |
09740
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IMGT |
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EMBL |
AB046853
AF448860
AK001729
AK025867
AK027636
AL133161
AL138836
AL353736
AL391870
AL590642
BC004526
BX537421
BX537759
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GenPept |
AAH04526
AAP41926
BAA91865
BAB13459
BAB15263
BAB55253
CAB61487
CAD97663
CAD97828
CAH70769
CAI16963
CAI40653
CAI40925
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