Q96SN8 (CK5P2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: CDK5 regulatory subunit-associated protein 2 Alternative name(s): CDK5 activator-binding protein C48 Centrosome-associated protein 215 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1893 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.12 Ref.13 Ref.15 Ref.16 |
| Subunit structure | 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. Ref.13 Ref.15 Ref.16 Ref.19 |
| 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. Ref.9 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.19 |
| Tissue specificity | Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Ref.8 |
| Post-translational modification | Phosphorylated in vitro by CDK5 By similarity. |
| Involvement in disease | Microcephaly, primary, 3 (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. |
| Sequence caution | The sequence AAH04526.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA91865.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB13459.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB15263.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB55253.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAD97663.1 differs from that shown. Reason: Erroneous termination at position 1205. Translated as Gln. The sequence CAD97828.1 differs from that shown. Reason: Frameshift at position 1831. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96SN8-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 (identifier: Q96SN8-2) The sequence of this isoform differs from the canonical sequence as follows: 702-733: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96SN8-3) The sequence of this isoform differs from the canonical sequence as follows: 1009-1049: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q96SN8-4) The sequence of this isoform differs from the canonical sequence as follows: 1576-1654: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1893 | 1893 | CDK5 regulatory subunit-associated protein 2 | PRO_0000089835 | |||||
Regions | |||||||||
| Region | 926 – 1208 | 283 | Interaction with MAPRE1 | ||||||
| Region | 1726 – 1893 | 168 | Interaction with PCNT and AKAP9 | ||||||
| Region | 1726 – 1768 | 43 | Interaction with CDK5R1 By similarity | ||||||
| Region | 1861 – 1870 | 10 | Required for centrosomal attachment, Golgi localization and CALM1 interaction | ||||||
Amino acid modifications | |||||||||
| Modified residue | 547 | 1 | Phosphoserine Ref.20 | ||||||
| Modified residue | 1001 | 1 | Phosphothreonine Ref.20 | ||||||
| Modified residue | 1238 | 1 | Phosphoserine Ref.14 Ref.18 | ||||||
| Modified residue | 1893 | 1 | Phosphoserine Ref.14 | ||||||
Natural variations | |||||||||
| Alternative sequence | 702 – 733 | 32 | Missing in isoform 2. | VSP_007563 | |||||
| Alternative sequence | 1009 – 1049 | 41 | Missing in isoform 3. | VSP_007564 | |||||
| Alternative sequence | 1576 – 1654 | 79 | Missing in isoform 4. | VSP_007565 | |||||
| Natural variant | 183 | 1 | A → P. Corresponds to variant rs13287734 [ dbSNP | Ensembl ]. | VAR_056831 | |||||
| Natural variant | 289 | 1 | E → Q. Ref.1 Ref.4 Corresponds to variant rs4836822 [ dbSNP | Ensembl ]. | VAR_017443 | |||||
| Natural variant | 1045 | 1 | R → T. Corresponds to variant rs3780679 [ dbSNP | Ensembl ]. | VAR_032426 | |||||
| Natural variant | 1330 | 1 | N → I. Corresponds to variant rs7875294 [ dbSNP | Ensembl ]. | VAR_059616 | |||||
| Natural variant | 1540 | 1 | V → L. Ref.4 Ref.6 Corresponds to variant rs4837768 [ dbSNP | Ensembl ]. | VAR_017444 | |||||
| Natural variant | 1607 | 1 | R → S. Corresponds to variant rs16909747 [ dbSNP | Ensembl ]. | VAR_056832 | |||||
Experimental info | |||||||||
| Mutagenesis | 938 | 1 | L → A: Loss of interaction with MAPRE1; when associated with A-939. Ref.16 | ||||||
| Mutagenesis | 939 | 1 | P → A: Loss of interaction with MAPRE1; when associated with A-938. Ref.16 | ||||||
| Mutagenesis | 1865 | 1 | K → A: No effect on centrosomal attachment, Golgi localization and loss of interaction with CALM1; when associated with A-1869. Ref.19 | ||||||
| Mutagenesis | 1869 | 1 | K → A: No effect on centrosomal attachment, Golgi localization and loss of interaction to CALM1; when associated with A-1865. Ref.19 | ||||||
| Sequence conflict | 27 | 1 | P → S in CAD97663. Ref.4 | ||||||
| Sequence conflict | 43 | 1 | L → V in AAP41926. Ref.3 | ||||||
| Sequence conflict | 292 | 1 | I → F in CAD97828. Ref.4 | ||||||
| Sequence conflict | 414 | 1 | E → K in CAD97828. Ref.4 | ||||||
| Sequence conflict | 1254 | 1 | S → F in CAD97663. Ref.4 | ||||||
| Sequence conflict | 1458 | 1 | Q → R in BAA91865. Ref.6 | ||||||
| Sequence conflict | 1483 | 1 | S → P in CAD97663. Ref.4 | ||||||
| Sequence conflict | 1550 | 1 | N → D in BAB55253. Ref.6 | ||||||
| Sequence conflict | 1838 | 1 | K → R in BAA91865. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT GLN-289. Tissue: Brain. |
| [2] | Ohara O., Nagase T., Kikuno R. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [3] | Guo J.H., Zan Q., Yu L. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 575-1893 (ISOFORM 2), VARIANTS GLN-289 AND LEU-1540. Tissue: Amygdala, Retina and Testis. |
| [5] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 950-1893 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1576-1654 (ISOFORM 4), VARIANT LEU-1540. Tissue: Kidney and Teratocarcinoma. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1401-1893. Tissue: Lung. |
| [8] | "Cloning of three novel neuronal Cdk5 activator binding proteins." Ching Y.-P., Qi Z., Wang J.H. Gene 242:285-294(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [9] | "Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast. |
| [10] | "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size." Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:353-355(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MCPH3. |
| [11] | Erratum Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:555-555(2005) |
| [12] | "Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion." Graser S., Stierhof Y.D., Nigg E.A. J. Cell Sci. 120:4321-4331(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [13] | "CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex." Fong K.W., Choi Y.K., Rattner J.B., Qi R.Z. Mol. Biol. Cell 19:115-125(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TUBG1 AND TUBGCP3. |
| [14] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1238 AND SER-1893, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [15] | "CDK5RAP2 is required for spindle checkpoint function." Zhang X., Liu D., Lv S., Wang H., Zhong X., Liu B., Wang B., Liao J., Li J., Pfeifer G.P., Xu X. Cell Cycle 8:1206-1216(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CDC20. |
| [16] | "Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics." Fong K.W., Hau S.Y., Kho Y.S., Jia Y., He L., Qi R.Z. Mol. Biol. Cell 20:3660-3670(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH MAPRE1, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-938 AND PRO-939. |
| [17] | "Plk1-dependent recruitment of gamma-tubulin complexes to mitotic centrosomes involves multiple PCM components." Haren L., Stearns T., Lueders J. PLoS ONE 4:E5976-E5976(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [18] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1238, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [19] | "Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex." Wang Z., Wu T., Shi L., Zhang L., Zheng W., Qu J.Y., Niu R., Qi R.Z. J. Biol. Chem. 285:22658-22665(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH AKAP9; CALM1 AND PCNT, MUTAGENESIS OF LYS-1865 AND LYS-1869. |
| [20] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547 AND THR-1001, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [21] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB046853 mRNA. Translation: BAB13459.2. Different initiation. AF448860 mRNA. Translation: AAP41926.1. AL133161 mRNA. Translation: CAB61487.1. BX537421 mRNA. Translation: CAD97663.1. Sequence problems. BX537759 mRNA. Translation: CAD97828.1. Frameshift. AL590642 AL391870 Genomic DNA. Translation: CAH70769.1.AL138836 AL590642 Genomic DNA. Translation: CAI16963.1.AL353736 AL590642 Genomic DNA. Translation: CAI40653.1.AL391870 AL590642 Genomic DNA. Translation: CAI40925.1.AK001729 mRNA. Translation: BAA91865.1. Different initiation. AK025867 mRNA. Translation: BAB15263.1. Different initiation. AK027636 mRNA. Translation: BAB55253.1. Different initiation. BC004526 mRNA. Translation: AAH04526.2. Different initiation. |
| IPI | IPI00329038. IPI00329039. IPI00384417. IPI00384418. |
| PIR | T42658. |
| RefSeq | NP_001011649.1. NM_001011649.2. NP_001258968.1. NM_001272039.1. NP_060719.4. NM_018249.5. |
| UniGene | Hs.269560. |
3D structure databases | |
| ProteinModelPortal | Q96SN8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-31632N. |
| IntAct | Q96SN8. 23 interactions. |
| MINT | MINT-1369618. |
PTM databases | |
| PhosphoSite | Q96SN8. |
Polymorphism databases | |
| DMDM | 296439505. |
Proteomic databases | |
| PaxDb | Q96SN8. |
| PRIDE | Q96SN8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000349780; ENSP00000343818; ENSG00000136861. ENST00000359309; ENSP00000352258; ENSG00000136861. ENST00000360190; ENSP00000353317; ENSG00000136861. ENST00000360822; ENSP00000354065; ENSG00000136861. |
| GeneID | 55755. |
| KEGG | hsa:55755. |
| UCSC | uc004bkf.3. human. uc004bkg.3. human. uc004bki.3. human. |
Organism-specific databases | |
| CTD | 55755. |
| GeneCards | GC09M123151. |
| H-InvDB | HIX0008336. |
| HGNC | HGNC:18672. CDK5RAP2. |
| HPA | HPA035820. |
| MIM | 604804. phenotype. 608201. gene. |
| neXtProt | NX_Q96SN8. |
| Orphanet | 2512. Autosomal recessive primary microcephaly. |
| PharmGKB | PA38632. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG46262. |
| HOVERGEN | HBG050976. |
| InParanoid | Q96SN8. |
| KO | K16542. |
| OMA | PEPSASH. |
| OrthoDB | EOG41ZF95. |
| PhylomeDB | Q96SN8. |
Enzyme and pathway databases | |
| Reactome | REACT_115566. Cell Cycle. |
Gene expression databases | |
| ArrayExpress | Q96SN8. |
| Bgee | Q96SN8. |
| Genevestigator | Q96SN8. |
| GermOnline | ENSG00000136861. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012943. Spindle_assoc. [Graphical view] |
| Pfam | PF07989. Microtub_assoc. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CDK5RAP2. human. |
| GenomeRNAi | 55755. |
| NextBio | 60757. |
| SOURCE | Search... |
Entry information
| Entry name | CK5P2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96SN8 Secondary accession number(s): Q5JV18 Q9UIW9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with
