CDKAL1

CDKAL1
Identifiers
Aliases CDKAL1
External IDs MGI: 1921765 HomoloGene: 9830 GeneCards: CDKAL1
Genetically Related Diseases
type 2 diabetes mellitus, urinary bladder cancer, obesity, gestational diabetes, ileal neoplasm, Crohn's disease[1]
Orthologs
Species Human Mouse
Entrez

54901

68916

Ensembl

ENSG00000145996

ENSMUSG00000006191

UniProt

Q5VV42

Q91WE6

RefSeq (mRNA)

NM_017774

NM_144536
NM_001308486

RefSeq (protein)

NP_060244.2

NP_001295415.1
NP_653119.1

Location (UCSC) Chr 6: 20.53 – 21.23 Mb Chr 13: 29.19 – 29.86 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

CDK5 regulatory subunit associated protein 1-like 1 is a protein that in humans is encoded by the CDKAL1 gene.[4]

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibility to type 2 diabetes`. [provided by RefSeq, May 2010].[4]

References

  1. ↑ "Diseases that are genetically associated with CDKAL1 view/edit references on wikidata".
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  4. 1 2 "Entrez Gene: CDK5 regulatory subunit associated protein 1-like 1". Retrieved 2012-03-12.

Further reading

  • Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, et al. (Jun 2007). "A variant in CDKAL1 influences insulin response and risk of type 2 diabetes". Nature Genetics. 39 (6): 770–5. doi:10.1038/ng2043. PMID 17460697. 
  • Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, et al. (Jun 2007). "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels". Science. 316 (5829): 1331–6. doi:10.1126/science.1142358. PMID 17463246. 
  • Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, et al. (Jun 2007). "A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants". Science. 316 (5829): 1341–5. doi:10.1126/science.1142382. PMC 3214617Freely accessible. PMID 17463248. 
  • Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, et al. (Jun 2007). Wellcome Trust Case Control Consortium (WTCCC). "Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes". Science. 316 (5829): 1336–41. doi:10.1126/science.1142364. PMID 17463249. 
  • "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature. 447 (7145): 661–78. Jun 2007. doi:10.1038/nature05911. PMC 2719288Freely accessible. PMID 17554300. 
  • Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, Frayling TM, Walker M (Dec 2007). "Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function". Diabetes. 56 (12): 3101–4. doi:10.2337/db07-0634. PMID 17804762. 
  • Horikoshi M, Hara K, Ito C, Shojima N, Nagai R, Ueki K, Froguel P, Kadowaki T (Dec 2007). "Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population". Diabetologia. 50 (12): 2461–6. doi:10.1007/s00125-007-0827-5. PMID 17928989. 
  • Wolf N, Quaranta M, Prescott NJ, Allen M, Smith R, Burden AD, Worthington J, Griffiths CE, Mathew CG, Barker JN, Capon F, Trembath RC (Feb 2008). "Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease". Journal of Medical Genetics. 45 (2): 114–6. doi:10.1136/jmg.2007.053595. PMID 17993580. 
  • Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, Kawamori R, Nakamura Y, Maeda S (Mar 2008). "Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population". Diabetes. 57 (3): 791–5. doi:10.2337/db07-0979. PMID 18162508. 
  • Cauchi S, Proença C, Choquet H, Gaget S, De Graeve F, Marre M, Balkau B, Tichet J, Meyre D, Vaxillaire M, Froguel P (Mar 2008). "Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study". Journal of Molecular Medicine. 86 (3): 341–8. doi:10.1007/s00109-007-0295-x. PMID 18210030. 


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