ANKK1:Ankyrin repeat and protein kinase domain-containing protein 1

Gene Name
Ankyrin repeat and protein kinase domain-containing protein 1
Protein ID
Q8NFD2
Chromosome ID
11
HPP Status
2
Protein Name
Ankyrin repeat and protein kinase domain-containing protein 1
Synonyms

SgK288

X-kinase

Protein kinase PKK2

ankyrin repeat and protein kinase domain-containing protein 1

protein kinase PKK2

Sugen kinase 288

ankyrin repeat and kinase domain containing 1

sugen kinase 288

sgK288

SGK288

PKK2

EC 2.7.11.1


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKK1 ]
Chromosomal Position
11q23.2 | Start:113387791 End:113387791
Sequence
Q8NFD2.fasta
Description

Entrez Gene Summary for ANKK1
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. (provided by RefSeq, Sep 2009)

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKK1 ]
External IDs
Hgnc ID: 21027 EntrezGene ID: 255239 Ensembl ID: ENSG00000170209
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKK1 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
12151753Among the aged with cognitive impairments, the homozygous status for the A2 allele of the DRD2 Taq I polymorphism is associated with diminished cognitive performance and increased atrophy in the striatum.2010-01-21
12555236study suggests that only the TaqI A polymorphism is associated with neuroleptic malignant syndrome, but the -141 C Ins/Del and Ser(9)Gly polymorphisms are not2010-01-21
12605103There is a lack of association in Japanese patients between neuroleptic malignant syndrome and the TaqI A polymorphism of this gene.2010-01-21
12762588a possible linkage with schizophrenia for the Taq1A marker but not for the Taq1B marker of DRD2 gene.2010-01-21
15146457changes in ANKK1 activity may provide an alternative explanation for previously described associations between the DRD2 Taq1A RFLP and neuropsychiatric disorders such as addiction2010-01-21
15542731It is suggested that in methamphetamine psychosis the TaqI A polymorphism of dopamine D2 receptor not only regulates prolongation of psychosis symptoms but also influences the form of the temporal lobe.2010-01-21
15545020the TaqIA1 allele of the dopamine receptor gene D2 has been associated with alcoholism, as well as with other addictive behaviours2010-01-21
15812318for men, but not for women, we observed a strong and specific association between low neuroticism-anxiety and the A1+ allele of the DRD2 TaqI A polymorphism2010-01-21
15939106APM linkage analysis suggested that the DD2R gene TaqI polymorphism had evidence of linkage with blood pressure, as well as with obesity.2010-01-21
16026865This study investigated two dopaminergic candidate genes (COMT VAL158MET and DRD2 TAQ IA) for endophenotypes of cognitive functioning. Results showed an interaction effect of DRD2xVAL on interference performance as measured by the STROOP-test.2010-01-21
16032443alcoholic and non-alcoholic smokers presented a higher frequency of the DRD2 TaqI A1 allele (P = 0.04) than non-smoking controls2010-01-21
16869231Utilize the attention network test and find that carriers of the A1 allele show gene-associated functional activation in an anatomically specific, dopamine-rich region of the brain comprising the anterior cingulate gyrus.2010-01-21
17069991No support for an association between early onset alcohol use disorders and the DRD2 TaqIA polymorphism.2010-01-21
17085484Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17120049A DRD2 polymorphic TaqIA restriction endonuclease site is associated with increase risk of violence or serious delinquency in male adolescents and young adults (ages 12 to 23).2010-01-21
17189962Smokers homozygous for the DRD2 TaqI-B2 allele experience progressive improvement in self-reported withdrawal symptoms while smokers with the TaqI-B1 allele show little change.2010-01-21
17446975study supports other family-based association tests that have reported no association between the DRD2 TaqIA polymorphism and alcohol abuse and dependence2010-01-21
17453061Results of this meta-analysis support the association of the DRD2 Taq1A polymorphism with alcoholism.2010-01-21
17669630In our study DRD2 C939T was in strong linkage disequilibrium with TaqIA in tardive dyskinesia in schizophrenia.2010-01-21
17671965Polymorphisms TaqI A of the DRD2 is associated with childhood attention deficit hyperactivity disorder2010-01-21
17761687Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17761687association studies of alcohol dependence and 43 SNPs mapped to the gene cluster of NCAM1, TTC12, ANKK1 and DRD22010-01-21
17767146The Taq1A of D2 dopamine receptor is associated with tardive dyskinesia .2010-01-21
17850642More extensive genotyping across DRD2 and ANKK1 suggests that the association with alcohol dependence observed in this region may be due to genetic variants in the ANKK1 gene.2010-01-21
17850642Observational study of gene-disease association. (HuGE Navigator)2008-03-13
18037170Findings do not support the hypothesis that two of the most prominent dopaminergic candidate loci (DRD2 Taq Ia and COMT Val158Met) effect prepulse inhibition the study does not exclude the relevance of the dopaminergic system in general.2010-01-21
18058343These data suggest that bupropion may be effective for smoking cessation only in a subgroup of smokers with the DRD2 Taq1 A2/A2 genotype.2010-01-21
18058350These findings suggest a modest association between DRD2 genotype and quitting behavior in male cigarette smokers in Egypt.2010-01-21
18063936A significant association was found between the dopamine D2 receptor gene TaqI A genotype and "Eros" (a loving style characterized by a tendency to develop intense emotional experiences based on the physical attraction to the partner).2010-01-21
18075468Taq1A polymorphism in DRD2 gene significantly influenced the time course of prolactin response to perphenazine2010-01-21
18259088This study finding significant associations between the A1 allele of the DRD2 TaqI A polymorphism and reward-related personality traits.2010-01-21
18354387Observational study of gene-disease association. (HuGE Navigator)2008-04-03
18354387study found a significant linkage with cigarette consumption and ANKK1 in African Americans, identified a possible causative single nucleotide polymorphism, and showed that the variant alters expression level of NF-kappaB-regulated genes2010-01-21
18669994Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-08-13
18669994The TaqI-A of the ANKK1 gene and the C957T of the DRD2 gene are epistatically associated with psychopathic traits in alcohol-dependent patients.2010-01-21
18690118We explored associations of gene variants in the dopamine, opioid, and serotonin pathways with smoking reward ('liking') and reinforcement (latency to first puff and total puffs) as a function of negative mood.2010-01-21
18698520Observational study of gene-disease association. (HuGE Navigator)2008-09-10
18698520results confirm a published association between TAQ1 A (rs1800497) T allele and cognitive outcome measures 1 month after TBI and suggest that a haploblock of polymorphisms in ANKK1, not the adjacent DRD2 gene, has the highest association after TBI2010-01-21
18828801Observational study of gene-disease association. (HuGE Navigator)2008-10-19
18828801Variants in the two 3'-ends of ANKK1 are linked to the co-regulation of risk for comorbid alcohol and drug dependence.2010-01-21
18926547DRD2/ANKK1 gene variations and some clinical factors may predict individual response to aripiprazole2010-01-21
18926547Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2008-11-02
18927395Observational study of gene-disease association. (HuGE Navigator)2008-11-05
19025655Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)2008-12-03
19046929Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2009-01-11
19283474ANKK1 mRNA is present in four cortical regions of the adult human brain. The TaqIA genotype may modulate a subject's susceptibility to alcohol-associated brain damage mediated by excitotoxicity.2010-05-03
19283474Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19291230Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2009-03-25
19321766Observational study of gene-disease association. (HuGE Navigator)2009-04-08
19339270Observational study of gene-disease association. (HuGE Navigator)2009-04-22
19373123Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2009-04-29
19512960Observational study of genetic testing. (HuGE Navigator)2009-06-24
19692168Observational study of gene-disease association. (HuGE Navigator)2009-09-20
19717274Observational study of gene-disease association. (HuGE Navigator)2009-09-16
19897017Presence of at least one copy of the A1 allele was associated with significantly higher Extraversion.2010-04-12
19900188Observational study of gene-disease association. (HuGE Navigator)2009-12-02
19914044Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)2009-12-02
19914044From the results of this study the alcohol-induced negative reinforcement may explain the greater risk for alcoholism associated with the A1 allele(ANKK1).2010-02-01
20133381Observational study of gene-disease association. (HuGE Navigator)2010-06-30
20133381This study evaluated the interaction of ANKK1, TTC12, sex, and continental ancestry in tobacco smokers.2010-05-31
20138949This study demonestrated that the functional link between DRD2 and ANKK1 could account for the interaction in patient with schizophrenia.2010-06-28
20180986Observational study of gene-disease association. (HuGE Navigator)2010-04-07
20199723DRD2/ANKK1 Taq IA polymorphism is not associated with early infant temperament.2010-05-31
20410875Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2010-06-30
20577142These findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.2011-02-26
20734064Observational study of gene-disease association. (HuGE Navigator)2010-12-05
20845092Results provide the first evidence of functional ANKK1 differences that are marked by TaqIA and could be associated with vulnerability to addiction.2011-09-24
21041608Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2010-12-05
21070510Study shows this gene is associated with ASPD without co-morbid alcoholism2013-01-05
21168125TTC12-ANKK1-DRD2s seemed to influence smoking behavior mainly in adolescence, and its effect is partially mediated by personality characteristics promoting drug-seeking behavior.2011-07-02
21261454This study found a double dissociation for temporal discrimination: the DRD2/ANKK1-Taq1a polymorphism (A1+ allele) was associated with significantly greater variability for the 500-msec duration.2012-01-07
21352928These results support the epistasis of catechol-O-methyltransferase and ANKK1 phenotypes in the flexible control of contextual information in humans2011-07-30
21510979subjects with the DRD2/ANKK1 TaqI Al allele exhibit decreased corticostriatal activity in response to negatively charged affective stimuli compared with subjects homozygous for the A2 allele.2011-10-22
21540761Those having DRD2/ANKK1 Taq1A variant alleles and a history of depression are likely to experience particular difficulty when trying to stop smoking.2011-11-05
21936764Associations were found between ANKK1 haplotype rs4938015C_rs11604671A and age of onset of daily smoking, as well as with hazardous drinking.2012-07-21
22232965It seems accurate to search for associations of polymorphisms in ANKK1 gene with dopaminergic system disorders.2012-02-04
22382052The results of this study suggested that the DRD2 C957T polymorphism and the ANKK1 TaqIA polymorphism are key contributors to the genetic susceptibility to nicotine dependence.2012-07-21
22698582Our study extends and confirms previous results and, for the first time, tested the gene-gene interaction between SLC6A3 and DRD2 in alcohol dependence.2012-11-17
22728571The A1 allele of DRD2/ANKK1 TaqI A interacts with hypoemotionality to predict a novel index of problem drinking2012-11-24
22875483For the ANKK1 polymorphism rs1800497, variant genotype & allele showed significant associations with migraine risk. 2 genotype interactions between ANKK1 rs1800497 & DBH rs72393728 polymorphisms showed significant risks.2013-08-31
22893251The findings of this study supported a possible role of ANKK1 and DRD2 variability on haloperidol efficacy.2013-08-31
22967772The association between 5 ANKK1, 54 DRD2, and 11 HTR2C SNPs and weight change during 8 weeks of olanzapine treatment was assessed in 4 pooled studies.2012-11-17
22970887Results show significant association with SNP in ANKK1 and general alcohol consumption and abuse.2013-10-19
23118020genetic association studies in population in Queensland: Data suggest that an SNP in ANKK1/DRD2 (rs1800497) is associated with risk of drug-induced akathisia in patients with schizophrenia who were treated with second-generation antipsychotics.2013-09-14
23153044the presence of the DRD2/ANKK1 TaqIA A1 allele is prospectively associated with increased probability of initiating cigarette smoking and subsequent levels of smoking.2013-11-30
23203481large-scale meta-analysis confirmed the association between the Taq1A polymorphism (located in the gene cluster ANKK1/DRD2) and Alcohol dependence2013-05-04
23302056results suggest that direct parental social control may effectively suppress the genetic risk of the A1/A1 genotype on marijuana use in adolescence.2014-09-06
23303482ANKK1 SNP rs877138 and ANKK1 SNP rs4938013 were associated with heroin dependence.2013-05-04
23383291COMT and ANKK1-Taq-Ia genetic polymorphisms influence visual working memory.2013-07-20
23443985ANKK1 TaqIA polymorphism was found to be significantly associated with Alcohol Dependence.2014-01-18
23558112The present study showed a significant difference in DRD2 -141C and ANKK1 TaqIA polymorphisms between the AD patients and the controls.2014-01-18
23590110Studied the distribution pattern of the three DRD2 and ANKK1 TaqI sites and also the frequencies of their haplotypes among Oraons (n = 48) and Mundas (n = 50)--the two linguistically distinct tribal population groups of Jharkhand.2013-06-22
23691092association of ANKK1/DRD2 further implicates the role of nicotine-related pathways and dopamine signaling in language processing, particularly in comprehension and phonological memory2014-01-11
23740147all the patients with prolactinomas respond in the same manner in terms of weight loss under dopaminergic treatment, regardless of the presence of A1 allele of the ANKK12014-12-20
23828101Findings of DRD2, ANKK1 and impulsivity are novel; they suggest that reward sensitivity and self-regulatory abilities might modulate the influences of sleep on weight gain2014-11-29
23840506Identification of single nucleotide polymorphisms in dopaminergic genes associated with heroin dependence.2014-01-25
23947671Upon stratifying for indoor tanning status, one ANKK1 SNP was positively associated with melanoma among non-tanners, while three DRD2 SNPS were positively associated with melanoma among tanners or non-tanners, depending on the SNP.2014-03-08
24247049An association between genotypes in the ANKK 1 gene polymorphism and sucrose preference in alcohol dependence has been demonstrated.2014-02-01
24528631individuals who carry the T allele of rs1800497 in the ANKK1 gene reported higher subjective effects in response to acute cocaine administration.2015-02-21
24629326in alcohol dependence, perceived impaired control is a cognitive mediator of impulsivity-related constructs that may be unaffected by DRD2/ANKK1 and neurocognitive processes underlying the retrieval of verbal information.2015-04-18
24704945DRD2/ANKK1 was significantly associated with elevated expression of t-DARPP in the caudate. Also, the A1 allele was significantly correlated with the total score of antemortem psychiatric symptoms.2015-01-24
24713612Study suggests that the DRD2/ANKK1 polymorphism rs1800497 interacts with ventral striatum activity during reward processing to affect working memory performance2015-04-18
25049133BMI gain in young women upon college entry was significantly associated with a ANKK1 SNP previously implicated in substance dependence risk2015-05-23
25073965ANKK1 rs1800497 variant is associated with schizophrenia in females.2015-05-16
25139281The involvement of variants in DRD2 and ANKK1 in the etiology of nicotine dependence (ND) and alcohol dependence, is reported.2015-10-24
25415204analyzed selected SNPs polymorphisms in the DRD2 and ANKK1 genes in patients with alcohol dependence syndrome (169 Caucasian subjects) including a subgroup of individuals (n = 61) who have experienced at least one suicide attempt2015-07-25
25447970The TaqIA genotype A1- is associated with impulse control disorder with a potentially addictive reinforcement and it may differentiate two types of disorders which are part of the impulse control disorders definition in Parkinson's disease patients.2015-11-28
25486867Results demonstrate a link between the DRD2/ANKK1-TaqIA polymorphism and neurocognitive deficits related to long-term memory updating, and provide novel evidence that this effect is magnified in aging2015-12-05
25500252The DRD2/ANKK1 TaqIA polymorphism was significantly associated with increased risk of opioid dependence.2015-09-05
25633559Findings extend those of previous studies reporting a negative relationship of the ANKK1 T allele with cognitive performance after traumatic brain injury.2016-04-16
25641135the rs1800497 locus may be associated with attention deficit hyperactivity disorder.[meta-analysis]2015-09-26
25684044the DRD2/ANKK1 Taq1A (rs1800497) SNP does not present contributions to the development of AD.2015-11-14
25740917The genotypic association of LEPR rs1137101, the allelic association of LEPR rs1137101, and ANKK1 rs1800497 with weight gain remained significant in epilepsy patients receiving valproic Acid.2016-02-06
26110876The DRD2/ANKK1 TaqIA polymorphism might contribute to TS susceptibility.2016-04-16
26114114These results support an association between ANKK1 and LTA genetic markers and vulnerability to schizophrenia and show the potential influence of just one copy of the mutant C or G allele in the Egyptian population.2016-03-19
27180960We found no association between alcohol dependence and ANKK1 Taq 1A polymorphism2016-06-11
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
ANKK1_HUMANIPR001245GO:0004672DomainSerine-threonine/tyrosine-protein kinase catalytic domainMolecular Functionprotein kinase activity
ANKK1_HUMANIPR001245GO:0006468DomainSerine-threonine/tyrosine-protein kinase catalytic domainBiological Processprotein phosphorylation
ANKK1_HUMANIPR002110GO:0005515RepeatAnkyrin repeatMolecular Functionprotein binding
ANKK1_HUMANIPR002290GO:0004672DomainSerine/threonine- / dual specificity protein kinase, catalytic domainMolecular Functionprotein kinase activity
ANKK1_HUMANIPR002290GO:0005524DomainSerine/threonine- / dual specificity protein kinase, catalytic domainMolecular FunctionATP binding
ANKK1_HUMANIPR002290GO:0006468DomainSerine/threonine- / dual specificity protein kinase, catalytic domainBiological Processprotein phosphorylation
ANKK1_HUMANIPR020635GO:0004713DomainTyrosine-protein kinase, catalytic domainMolecular Functionprotein tyrosine kinase activity
ANKK1_HUMANIPR020635GO:0006468DomainTyrosine-protein kinase, catalytic domainBiological Processprotein phosphorylation
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




MaxQB

Evidence File
/mnt/mpp/ms_data/Q8NFD2_maxqb.txt
Reference
Christoph Schaab, Tamar Geiger, Gabriele Stoehr, Juergen Cox and Matthias Mann: "Analysis of high-accuracy, quantitative proteomics data in the MaxQB database", Mol Cell Proteomics 11 (2012) M111.014068.
http://maxqb.biochem.mpg.de/mxdb/ ">MaxQB


PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q8NFD2_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Showing 1-1 of 1 item.

Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q8NFD2_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB