CDK5RAP2: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''CDK5 regulatory subunit-associated protein 2''' is a [[protein]] that in humans is encoded by the ''CDK5RAP2'' [[gene]]. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined.<ref name="pmid10721722">{{cite journal |vauthors=Ching YP, Qi Z, Wang JH | title = Cloning of three novel neuronal Cdk5 activator binding proteins | journal = Gene | volume = 242 | issue = 1–2 | pages = 285–94 |date=April 2000 | pmid = 10721722 | pmc =  | doi =10.1016/S0378-1119(99)00499-0  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CDK5RAP2 CDK5 regulatory subunit associated protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55755| accessdate = }}</ref> CDK5RAP2 is homologous to the ''[[Drosophila]]'' protein centrosomin (cnn).<ref>{{cite journal|last=Barr|first=A. R.|author2=Kilmartin, J. V. |author3=Gergely, F. |title=CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response|journal=The Journal of Cell Biology|date=5 April 2010|volume=189|issue=1|pages=23–39|doi=10.1083/jcb.200912163|pmid=20368616|pmc=2854379}}</ref>
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| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = CDK5 regulatory subunit associated protein 2
| HGNCid = 18672
| Symbol = CDK5RAP2
| AltSymbols =; C48; Cep215; DKFZp686B1070; DKFZp686D1070; KIAA1633; MCPH3
| OMIM = 608201
| ECnumber = 
| Homologene = 49533
| MGIid = 2384875
| GeneAtlas_image1 = PBB_GE_CDK5RAP2_220935_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CDK5RAP2_gnf1h09333_s_at_tn.png
| Function = {{GNF_GO|id=GO:0008017 |text = microtubule binding}} {{GNF_GO|id=GO:0042808 |text = neuronal Cdc2-like kinase binding}}
| Component = {{GNF_GO|id=GO:0005813 |text = centrosome}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}}
| Process = {{GNF_GO|id=GO:0007420 |text = brain development}} {{GNF_GO|id=GO:0045664 |text = regulation of neuron differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55755
    | Hs_Ensembl = ENSG00000136861
    | Hs_RefseqProtein = NP_001011649
    | Hs_RefseqmRNA = NM_001011649
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 122190968
    | Hs_GenLoc_end = 122382258
    | Hs_Uniprot = Q96SN8
    | Mm_EntrezGene = 214444
    | Mm_Ensembl = ENSMUSG00000039298
    | Mm_RefseqmRNA = NM_145990
    | Mm_RefseqProtein = NP_666102
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 69709385
    | Mm_GenLoc_end = 69896779
    | Mm_Uniprot = Q0VGR5
  }}
}}
'''CDK5 regulatory subunit associated protein 2''', also known as '''CDK5RAP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CDK5RAP2 CDK5 regulatory subunit associated protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55755| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal [[CDC2]]-like kinase.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined.<ref name="entrez">{{cite web | title = Entrez Gene: CDK5RAP2 CDK5 regulatory subunit associated protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55755| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
A [[magnetic resonance imaging]] study has demonstrated a link between common variation in the CDK5RAP2 gene and brain structure.<ref name="pmid20080800">{{cite journal |vauthors=Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA | title = Sex-dependent association of common variants of microcephaly genes with brain structure | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 107 | issue = 1 | pages = 384–8 |date=January 2010 | pmid = 20080800 | pmc = 2806758 | doi = 10.1073/pnas.0908454107 }}</ref> More specifically, associations were found between several [[single nucleotide polymorphism]]s (SNPs) and brain ''cortical surface area'' and total brain volume.  These associations were found exclusively in male subjects and all SNPs were located upstream in non-exonic regions. The functional significance of these loci is not yet known. However, given their location close to regulatory elements, it is possible that they are involved in gene regulation, which suggests that common variance in brain structure could be associated with differences in gene regulation rather than protein structure, consistent with findings in other complex human traits.
 
== Interactions ==
 
CDK5RAP2 has been shown to [[Protein-protein interaction|interact]] with [[CDK5R1]].<ref name="pmid10915792">{{cite journal |vauthors=Wang X, Ching YP, Lam WH, Qi Z, Zhang M, Wang JH | title = Identification of a common protein association region in the neuronal Cdk5 activator | journal = J. Biol. Chem. | volume = 275 | issue = 41 | pages = 31763–9 |date=October 2000 | pmid = 10915792 | doi = 10.1074/jbc.M004358200  }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Moynihan L, Jackson AP, Roberts E |title=A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=66 |issue= 2 |pages= 724–7 |year= 2000 |pmid= 10677332 |doi=10.1086/302777 | pmc=1288125  |display-authors=etal}}
| citations =
*{{cite journal  |vauthors=Wang X, Ching YP, Lam WH |title=Identification of a common protein association region in the neuronal Cdk5 activator. |journal=J. Biol. Chem. |volume=275 |issue= 41 |pages= 31763–9 |year= 2000 |pmid= 10915792 |doi= 10.1074/jbc.M004358200 |display-authors=etal}}
*{{cite journal  | author=Moynihan L, Jackson AP, Roberts E, ''et al.'' |title=A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=66 |issue= 2 |pages= 724-7 |year= 2000 |pmid= 10677332 |doi= }}
*{{cite journal  |vauthors=Nagase T, Kikuno R, Nakayama M |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=  10.1093/dnares/7.4.271|display-authors=etal}}
*{{cite journal | author=Ching YP, Qi Z, Wang JH |title=Cloning of three novel neuronal Cdk5 activator binding proteins. |journal=Gene |volume=242 |issue= 1-2 |pages= 285-94 |year= 2000 |pmid= 10721722 |doi= }}
*{{cite journal  |vauthors=Ching YP, Pang AS, Lam WH |title=Identification of a neuronal Cdk5 activator-binding protein as Cdk5 inhibitor. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15237–40 |year= 2002 |pmid= 11882646 |doi= 10.1074/jbc.C200032200 |display-authors=etal}}
*{{cite journal  | author=Wang X, Ching YP, Lam WH, ''et al.'' |title=Identification of a common protein association region in the neuronal Cdk5 activator. |journal=J. Biol. Chem. |volume=275 |issue= 41 |pages= 31763-9 |year= 2000 |pmid= 10915792 |doi= 10.1074/jbc.M004358200 }}
*{{cite journal  |vauthors=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773–84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 | pmc=187542 }}
*{{cite journal  | author=Nagase T, Kikuno R, Nakayama M, ''et al.'' |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273-81 |year= 2001 |pmid= 10997877 |doi=  }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Ching YP, Pang AS, Lam WH, ''et al.'' |title=Identification of a neuronal Cdk5 activator-binding protein as Cdk5 inhibitor. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15237-40 |year= 2002 |pmid= 11882646 |doi= 10.1074/jbc.C200032200 }}
*{{cite journal  |vauthors=Andersen JS, Wilkinson CJ, Mayor T |title=Proteomic characterization of the human centrosome by protein correlation profiling. |journal=Nature |volume=426 |issue= 6966 |pages= 570–4 |year= 2003 |pmid= 14654843 |doi= 10.1038/nature02166 |display-authors=etal}}
*{{cite journal  | author=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773-84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Humphray SJ, Oliver K, Hunt AR |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 | pmc=2734081 |display-authors=etal}}
*{{cite journal  | author=Andersen JS, Wilkinson CJ, Mayor T, ''et al.'' |title=Proteomic characterization of the human centrosome by protein correlation profiling. |journal=Nature |volume=426 |issue= 6966 |pages= 570-4 |year= 2003 |pmid= 14654843 |doi= 10.1038/nature02166 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  |vauthors=Bond J, Roberts E, Springell K |title=A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. |journal=Nat. Genet. |volume=37 |issue= 4 |pages= 353–5 |year= 2005 |pmid= 15793586 |doi= 10.1038/ng1539 |display-authors=etal}}
*{{cite journal  | author=Humphray SJ, Oliver K, Hunt AR, ''et al.'' |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369-74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 }}
*{{cite journal  |vauthors=Nousiainen M, Silljé HH, Sauer G |title=Phosphoproteome analysis of the human mitotic spindle. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391–6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 | pmc=1459365 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Evans PD, Vallender EJ, Lahn BT |title=Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ. |journal=Gene |volume=375 |issue=  |pages= 75–9 |year= 2006 |pmid= 16631324 |doi= 10.1016/j.gene.2006.02.019 }}
*{{cite journal  | author=Bond J, Roberts E, Springell K, ''et al.'' |title=A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. |journal=Nat. Genet. |volume=37 |issue= 4 |pages= 353-5 |year= 2005 |pmid= 15793586 |doi= 10.1038/ng1539 }}
*{{cite journal  |vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |display-authors=etal}}
*{{cite journal  | author=Nousiainen M, Silljé HH, Sauer G, ''et al.'' |title=Phosphoproteome analysis of the human mitotic spindle. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391-6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 }}
*{{cite journal  | author=Evans PD, Vallender EJ, Lahn BT |title=Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ. |journal=Gene |volume=375 |issue=  |pages= 75-9 |year= 2006 |pmid= 16631324 |doi= 10.1016/j.gene.2006.02.019 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{UCSC gene info|CDK5RAP2}}

Revision as of 06:48, 1 December 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the CDK5RAP2 gene. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined.[1][2] CDK5RAP2 is homologous to the Drosophila protein centrosomin (cnn).[3]

Function

Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase.[2]

Clinical significance

A magnetic resonance imaging study has demonstrated a link between common variation in the CDK5RAP2 gene and brain structure.[4] More specifically, associations were found between several single nucleotide polymorphisms (SNPs) and brain cortical surface area and total brain volume. These associations were found exclusively in male subjects and all SNPs were located upstream in non-exonic regions. The functional significance of these loci is not yet known. However, given their location close to regulatory elements, it is possible that they are involved in gene regulation, which suggests that common variance in brain structure could be associated with differences in gene regulation rather than protein structure, consistent with findings in other complex human traits.

Interactions

CDK5RAP2 has been shown to interact with CDK5R1.[5]

References

  1. ↑ Ching YP, Qi Z, Wang JH (April 2000). "Cloning of three novel neuronal Cdk5 activator binding proteins". Gene. 242 (1–2): 285–94. doi:10.1016/S0378-1119(99)00499-0. PMID 10721722.
  2. ↑ 2.0 2.1 "Entrez Gene: CDK5RAP2 CDK5 regulatory subunit associated protein 2".
  3. ↑ Barr, A. R.; Kilmartin, J. V.; Gergely, F. (5 April 2010). "CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response". The Journal of Cell Biology. 189 (1): 23–39. doi:10.1083/jcb.200912163. PMC 2854379. PMID 20368616.
  4. ↑ Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA (January 2010). "Sex-dependent association of common variants of microcephaly genes with brain structure". Proc. Natl. Acad. Sci. U.S.A. 107 (1): 384–8. doi:10.1073/pnas.0908454107. PMC 2806758. PMID 20080800.
  5. ↑ Wang X, Ching YP, Lam WH, Qi Z, Zhang M, Wang JH (October 2000). "Identification of a common protein association region in the neuronal Cdk5 activator". J. Biol. Chem. 275 (41): 31763–9. doi:10.1074/jbc.M004358200. PMID 10915792.

Further reading

External links

Retrieved from "https://www.wikidoc.org/index.php?title=CDK5RAP2&oldid=1422919"