Human Gene CDK5RAP2 (ENST00000360190.8) Description and Page Index

Description: Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 2, mRNA. (from RefSeq NM_001011649)
Gencode Transcript: ENST00000360190.8
Gencode Gene: ENSG00000136861.18
Transcript (Including UTRs)
Position: hg38 chr9:120,388,876-120,580,158 Size: 191,283 Total Exon Count: 37 Strand: -
Coding Region
Position: hg38 chr9:120,389,236-120,579,978 Size: 190,743 Coding Exon Count: 37

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: CK5P2_HUMAN DESCRIPTION: RecName: Full=CDK5 regulatory subunit-associated protein 2; AltName: Full=CDK5 activator-binding protein C48; AltName: Full=Centrosome-associated protein 215; 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. SUBUNIT: Interacts with CDK5R1 (p35 form). CDK5RAP1, CDK5RAP2 and CDK5RAP3 show competitive binding to CDK5R1. Probably forms a complex with CDK5R1 and CDK5 (By similarity). Interacts with PCNT; the interaction is leading to centrosomal and Golgi localization of CDK5RAP2 and PCNT. Interacts with AKAP9; the interaction is leading to Golgi localization of CDK5RAP2 and AKAP9. Interacts with MAPRE1; the interaction is leading to microtubule attachment at plus ends of CDK5RAP2 and MAPRE1. Interacts with TUBG1; the interaction is leading to the centrosomal localization of CDK5RAP2 and TUBG1. Interacts with TUBGCP3. Interacts with CALM1. Interacts with CDC20. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, 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. TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. PTM: Phosphorylated in vitro by CDK5 (By similarity). DISEASE: Defects in CDK5RAP2 are the cause of microcephaly primary type 3 (MCPH3) [MIM:604804]. A disorder 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. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. SEQUENCE CAUTION: Sequence=AAH04526.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91865.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13459.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB15263.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55253.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97663.1; Type=Erroneous termination; Positions=1205; Note=Translated as Gln; Sequence=CAD97828.1; Type=Frameshift; Positions=1831;