ANKK1 ankyrin repeat and kinase domain containing 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ANKK1provided by HGNC
Official Full Name: ankyrin repeat and kinase domain containing 1provided by HGNC
Primary source: HGNC:21027
See related: Ensembl:ENSG00000170209; HPRD:10580; MIM:608774; Vega:OTTHUMG00000167715
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PKK2
Summary: 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]
Annotation information: Note: A frequently studied SNP, known as TaqI DRD2 (rs1800497), was originally associated with the DRD2 gene (GeneID 1813) but was later found to be located within exon 8 of the adjacent gene, ANKK1 (GeneID 255239). The location of rs1800497 is not always specified within publications. Publications may be associated with either locus or with both loci in order to point out the relationship of rs1800497 to both loci. [20 Jun 2008]

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Genomic context

Location :: 11q23.2

Sequence :: Chromosome: 11; NC_000011.9 (113258513..113271140)

See ANKK1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

It seems accurate to search for associations of polymorphisms in ANKK1 gene with dopaminergic system disorders.
Title: [ANKK1 gene in psychiatry].
This 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.
Title: Double dissociation of dopamine genes and timing in humans.
Those having DRD2/ANKK1 Taq1A variant alleles and a history of depression are likely to experience particular difficulty when trying to stop smoking.
Title: Association between DRD2/ANKK1 Taq1A genotypes, depression and smoking cessation with nicotine replacement therapy.
subjects 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.
Title: DRD2/ANKK1 TaqI A polymorphism affects corticostriatal activity in response to negative affective facial stimuli.
Results provide the first evidence of functional ANKK1 differences that are marked by TaqIA and could be associated with vulnerability to addiction.
Title: The ANKK1 protein associated with addictions has nuclear and cytoplasmic localization and shows a differential response of Ala239Thr to apomorphine.
These results support the epistasis of catechol-O-methyltransferase and ANKK1 phenotypes in the flexible control of contextual information in humans
Title: COMT and ANKK1 gene-gene interaction modulates contextual updating of mental representations.
TTC12-ANKK1-DRD2s seemed to influence smoking behavior mainly in adolescence, and its effect is partially mediated by personality characteristics promoting drug-seeking behavior.
Title: TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.
These findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.
Title: The ALDH2 and DRD2/ANKK1 genes interacted in bipolar II but not bipolar I disorder.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
This study demonestrated that the functional link between DRD2 and ANKK1 could account for the interaction in patient with schizophrenia.
Title: A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes.

Submit: New GeneRIF Correction See all (54)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Dopamine receptor D2, reduced brain density of

MIM: 608774

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Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: ankyrin repeat and protein kinase domain-containing protein 1

Names: ankyrin repeat and protein kinase domain-containing protein 1; sgK288; X-kinase; sugen kinase 288; protein kinase PKK2

NP_848605.1

EC 2.7.11.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012976.1 RefSeqGene

Range

5001..17628

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_178510.1 → NP_848605.1 ankyrin repeat and protein kinase domain-containing protein 1

Status: REVIEWED

Source sequence(s)

AJ541797

Consensus CDS

CCDS44734.1

UniProtKB/Swiss-Prot

Q8NFD2

Related

ENSP00000306678, OTTHUMP00000236610, ENST00000303941, OTTHUMT00000395830

Conserved Domains (5) summary

cd00204
Location:389 – 513
Blast Score: 317

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd00180
Location:30 – 281
Blast Score: 451

PKc; Catalytic domain of Protein Kinases

smart00220
Location:26 – 281
Blast Score: 454

S_TKc; Serine/Threonine protein kinases, catalytic domain

pfam12796
Location:432 – 523
Blast Score: 235

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:678 – 732
Blast Score: 110

Ank_5; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

113258513..113271140

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

109186137..109198762

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GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF525298.1	AAM91924.1
genomic	AP002840.3 (24081..36708)	None
genomic	CH471065.1	EAW67216.1
		EAW67217.1
genomic	EF444946.1	ACA05931.1
mRNA	AF487542.1	AAQ09005.1
mRNA	AJ541797.2	CAD62569.2
other-genetic	BC156146.1	AAI56147.1
other-genetic	BC172460.1	AAI72460.1