Human Gene CDK5RAP2 (ENST00000349780.9) from GENCODE V44
Description: Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 8, non-coding RNA. (from RefSeq NR_073558) RefSeq Summary (NM_018249): This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Gencode Transcript: ENST00000349780.9 Gencode Gene: ENSG00000136861.19 Transcript (Including UTRs) Position: hg38 chr9:120,388,875-120,580,167 Size: 191,293 Total Exon Count: 38 Strand: - Coding Region Position: hg38 chr9:120,389,236-120,579,978 Size: 190,743 Coding Exon Count: 38
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;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96SN8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AF448860 - Homo sapiens hypothetical protein mRNA, complete cds. KP294527 - Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2) mRNA, complete cds. CR936622 - Homo sapiens mRNA; cDNA DKFZp686D1070 (from clone DKFZp686D1070). CR936717 - Homo sapiens mRNA; cDNA DKFZp686B1070 (from clone DKFZp686B1070). BC146782 - Homo sapiens CDK5 regulatory subunit associated protein 2, mRNA (cDNA clone MGC:166867 IMAGE:9007237), complete cds. AL833481 - Homo sapiens mRNA; cDNA DKFZp686D0129 (from clone DKFZp686D0129). AB046853 - Homo sapiens KIAA1633 mRNA for KIAA1633 protein. BX537759 - Homo sapiens mRNA; cDNA DKFZp686O0188 (from clone DKFZp686O0188); complete cds. AK122913 - Homo sapiens cDNA FLJ16590 fis, clone TESTI4001604, highly similar to CDK5 regulatory subunit-associated protein 2. BC136275 - Homo sapiens CDK5 regulatory subunit associated protein 2, mRNA (cDNA clone MGC:167885 IMAGE:9020262), complete cds. BC143732 - Homo sapiens cDNA clone IMAGE:9052246, containing frame-shift errors. BC143734 - Homo sapiens cDNA clone IMAGE:9052248, containing frame-shift errors. BC143755 - Homo sapiens cDNA clone IMAGE:9052269, with apparent retained intron. BC143760 - Homo sapiens cDNA clone IMAGE:9052274, with apparent retained intron. BC143762 - Homo sapiens CDK5 regulatory subunit associated protein 2, mRNA (cDNA clone MGC:177293 IMAGE:9052276), complete cds. AL133161 - Homo sapiens mRNA; cDNA DKFZp434K0115 (from clone DKFZp434K0115); partial cds. BX537421 - Homo sapiens mRNA; cDNA DKFZp686E2146 (from clone DKFZp686E2146); complete cds. BC143753 - Homo sapiens cDNA clone IMAGE:9052267, containing frame-shift errors. BC143764 - Homo sapiens cDNA clone IMAGE:9052278, with apparent retained intron. AB489151 - Synthetic construct DNA, clone: pF1KA1633, Homo sapiens CDK5RAP2 gene for CDK5 regulatory subunit associated protein 2, without stop codon, in Flexi system. BX537708 - Homo sapiens mRNA; cDNA DKFZp686M1993 (from clone DKFZp686M1993); complete cds. BX640896 - Homo sapiens mRNA; cDNA DKFZp686E2242 (from clone DKFZp686E2242). AK025867 - Homo sapiens cDNA: FLJ22214 fis, clone HRC01534. BC004526 - Homo sapiens CDK5 regulatory subunit associated protein 2, mRNA (cDNA clone IMAGE:3537925), complete cds. JD565293 - Sequence 546317 from Patent EP1572962. JD165713 - Sequence 146737 from Patent EP1572962. JD331956 - Sequence 312980 from Patent EP1572962. JD418840 - Sequence 399864 from Patent EP1572962. AF087969 - Homo sapiens full length insert cDNA clone YU73B11. AK027636 - Homo sapiens cDNA FLJ14730 fis, clone NT2RP3001931, weakly similar to Rattus norvegicus clone C48 CDK5 activator-binding protein mRNA. AK001729 - Homo sapiens cDNA FLJ10867 fis, clone NT2RP4001634. JD435960 - Sequence 416984 from Patent EP1572962. JD033148 - Sequence 14172 from Patent EP1572962. JD022103 - Sequence 3127 from Patent EP1572962. BC019577 - Homo sapiens CDK5 regulatory subunit associated protein 2, mRNA (cDNA clone IMAGE:4937907), partial cds. DQ581824 - Homo sapiens piRNA piR-49936, complete sequence. JD172243 - Sequence 153267 from Patent EP1572962. JD211293 - Sequence 192317 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96SN8 (Reactome details) participates in the following event(s):
R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-5617833 Cilium Assembly R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
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