ANKK1

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Ankyrin repeat and kinase domain containing 1
Identifiers
Symbols ANKK1 ; PKK2
External IDs OMIM608774 HomoloGene18258 ChEMBL: 5547 GeneCards: ANKK1 Gene
EC number 2.7.11.1
Orthologs
Species Human Mouse
Entrez 255239 244859
Ensembl ENSG00000170209 ENSMUSG00000032257
UniProt Q8NFD2 Q8BZ25
RefSeq (mRNA) NM_178510 NM_172922
RefSeq (protein) NP_848605 NP_766510
Location (UCSC) Chr 11:
113.26 – 113.27 Mb
Chr 9:
49.42 – 49.43 Mb
PubMed search [1] [2]

Ankyrin repeat and kinase domain containing 1 (ANKK1) also known as protein kinase PKK2 or sugen kinase 288 (SgK288) is an enzyme that in humans is encoded by the ANKK1 gene. The ANKK1 is a member of an extensive family of the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways.

Clinical significance[edit]

This gene contains a single nucleotide polymorphism that causes an amino acid substitution within the 11th of 12 ankyrin repeats of ANKK1 (Glu713Lys of 765 residues). This polymorphism, which is commonly referred to Taq1A, was previously believed to be located in the promoter region of the DRD2 gene, since the polymorphism is proximal to the DRD2 gene and can influence DRD2 receptor expression.[1] It is now known to be located in the coding region of the ANKK1 gene which controls the synthesis of dopamine in the brain.[2] The A1 allele is associated with increased activity of striatal L-amino acid decarboxylase.[3]

Behaviours associated with the Taq1A polymorphism[edit]

A1+ allele[edit]

Given that the A1+ allele is associated with dissocial personality disorder, one may infer that the allele is also associated with narcissistic personality disorder and histrionic personality disorder. However, these predictions have not yet been empirically verified.

A1+ genotype frequencies[edit]

European population estimates for A1+ genotype frequencies range from 20.8 to 43.4% (National Center of Biotechnology Information (NCBI), identification number rs1800497).[8]

References[edit]

  1. ^ Lucht M, Rosskopf D (July 2008). "Comment on "Genetically determined differences in learning from errors"". Science 321 (5886): 200; author reply 200. doi:10.1126/science.1155372. PMID 18621654. 
  2. ^ Neville MJ, Johnstone EC, Walton RT (June 2004). "Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1". Hum. Mutat. 23 (6): 540–5. doi:10.1002/humu.20039. PMID 15146457. 
  3. ^ Laakso A, Pohjalainen T, Bergman J, Kajander J, Haaparanta M, Solin O, Syvälahti E, Hietala J (June 2005). "The A1 allele of the human D2 dopamine receptor gene is associated with increased activity of striatal L-amino acid decarboxylase in healthy subjects". Pharmacogenet. Genomics 15 (6): 387–91. doi:10.1097/01213011-200506000-00003. PMID 15900211. 
  4. ^ Lawford B, Young R, Noble EP, Crawford D, Rowell J, Shadforth S, Ritchie T, Zhang X, Cooksley GE (January 1999). "The DRD2A₁allele: a behavioural genetic risk factor in hepatitis C infection of persistent drug abusers". Addict Biol 4 (1): 61–6. doi:10.1080/13556219971858. PMID 20575771. 
  5. ^ Lu RB, Lee JF, Huang SY, Lee SY, Chang YH, Kuo PH, Chen SL, Chen SH, Chu CH, Lin WW, Wu PL, Ko HC (November 2010). "Interaction between ALDH2*1*1 and DRD2/ANKK1 TaqI A1A1 genes may be associated with antisocial personality disorder not co-morbid with alcoholism". Addict Biol. doi:10.1111/j.1369-1600.2010.00268.x. PMID 21070510. 
  6. ^ Ponce G, Hoenicka J, Jiménez-Arriero MA, Rodríguez-Jiménez R, Aragüés M, Martín-Suñé N, Huertas E, Palomo T (August 2008). "DRD2 and ANKK1 genotype in alcohol-dependent patients with psychopathic traits: association and interaction study". Br J Psychiatry 193 (2): 121–5. doi:10.1192/bjp.bp.107.041582. PMID 18669994. 
  7. ^ Blum K, Braverman ER, Wu S, Cull JG, Chen TJ, Gill J, Wood R, Eisenberg A, Sherman M, Davis KR, Matthews D, Fischer L, Schnautz N, Walsh W, Pontius AA, Zedar M, Kaats G, Comings DE (May 1997). "Association of polymorphisms of dopamine D2 receptor (DRD2), and dopamine transporter (DAT1) genes with schizoid/avoidant behaviors (SAB)". Mol. Psychiatry 2 (3): 239–46. doi:10.1038/sj.mp.4000261. PMID 9152988. 
  8. ^ "rs1800497". Reference SNP(refSNP) Cluster Report. United States National Center for Biotechnology Information.