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ANKK1 ankyrin repeat and kinase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 255239, updated on 5-Mar-2024

Summary

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Official Symbol
ANKK1provided by HGNC
Official Full Name
ankyrin repeat and kinase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21027
See related
Ensembl:ENSG00000170209 MIM:608774; AllianceGenome:HGNC:21027
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; sgK288
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. [13 Feb 2013]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See ANKK1 in Genome Data Viewer
Location:
11q23.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113387779..113400416)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (113398282..113410917)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113258501..113271138)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TTC12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3908 Neighboring gene Sharpr-MPRA regulatory region 9915 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:113202304-113203503 Neighboring gene tetratricopeptide repeat domain 12 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:113214693-113215892 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5539 Neighboring gene dopamine receptor D2 Neighboring gene microRNA 4301 Neighboring gene uncharacterized LOC105369501

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease. Pérez-Santamarina E, et al. Sci Rep, 2021 May 10. PMID 33972609, Free PMC Article
  2. Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia. Fedorenko OY, et al. Hum Psychopharmacol, 2020 Jul. PMID 32383805, Free PMC Article
  3. Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability. Koeneke A, et al. Int J Mol Sci, 2020 Apr 4. PMID 32260442, Free PMC Article
  4. The Ankyrin Repeat and Kinase Domain Containing 1 Gene Polymorphism (ANKK1Taq1A) and Personality Traits in Addicted Subjects. Grzywacz A, et al. Int J Environ Res Public Health, 2019 Jul 27. PMID 31357601, Free PMC Article
  5. Relationship between ANKK1 rs1800497 polymorphism, overweight and executive dysfunction in early psychosis. Sanchez-Gistau V, et al. Schizophr Res, 2019 Jul. PMID 31103213

See all (155) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Addiction-Susceptibility TaqIA/Ankk1 Controls Reward and Metabolism Through D2 Receptor-Expressing Neurons.
    Title: The Addiction-Susceptibility TaqIA/Ankk1 Controls Reward and Metabolism Through D(2) Receptor-Expressing Neurons.
  2. The ANKK1/DRD2 gene TaqIA polymorphism (rs1800497) is associated with the severity of extrapyramidal side effects of haloperidol treatment in CYP2D6 extensive metabolizers with schizophrenia spectrum disorders.
    Title: The ANKK1/DRD2 gene TaqIA polymorphism (rs1800497) is associated with the severity of extrapyramidal side effects of haloperidol treatment in CYP2D6 extensive metabolizers with schizophrenia spectrum disorders.
  3. Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.
    Title: Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.
  4. Investigating the association between common DRD2/ANKK1 genetic polymorphisms and schizophrenia: a meta-analysis.
    Title: Investigating the association between common DRD2/ANKK1 genetic polymorphisms and schizophrenia: a meta-analysis.
  5. Analysis of Selected Variants of DRD2 and ANKK1 Genes in Combat Athletes.
    Title: Analysis of Selected Variants of DRD2 and ANKK1 Genes in Combat Athletes.
  6. Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.
    Title: Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.
  7. Genotypes of ANKK1 and DRD2 genes and risk of metabolic syndrome and its components: A cross-sectional study on Iranian women.
    Title: Genotypes of ANKK1 and DRD2 genes and risk of metabolic syndrome and its components: A cross-sectional study on Iranian women.
  8. Associations of the ANKK1 and DRD2 gene polymorphisms with overweight, obesity and hedonic hunger among women from the Northwest of Iran.
    Title: Associations of the ANKK1 and DRD2 gene polymorphisms with overweight, obesity and hedonic hunger among women from the Northwest of Iran.
  9. Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia.
    Title: Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia.
  10. Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region.
    Title: Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region.
Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell cycle process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of cell cycle process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ankyrin repeat and protein kinase domain-containing protein 1
Names
X-kinase
protein kinase PKK2
sugen kinase 288
NP_848605.1
XP_011541038.1
XP_011541039.1
XP_011541040.1
XP_016872964.1
XP_054224282.1
XP_054224283.1
XP_054224284.1
XP_054224285.1

NCBI Reference Sequences (RefSeq)

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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

  1. NG_012976.1 RefSeqGene

    Range
    4989..17626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178510.2 → NP_848605.1  ankyrin repeat and protein kinase domain-containing protein 1

    See identical proteins and their annotated locations for NP_848605.1

    Status: REVIEWED

    Source sequence(s)
    AJ541797, AP002840
    Consensus CDS
    CCDS44734.1
    UniProtKB/Swiss-Prot
    Q8NFD2
    Related
    ENSP00000306678.3, ENST00000303941.4
    Conserved Domains (6) summary
    smart00220
    Location:26 → 281
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:389 → 513
    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 ...
    cd14025
    Location:25 → 293
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:432 → 523
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:528 → 580
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:427 → 458
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    113387779..113400416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017475.2 → XP_016872964.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X2

  2. XM_011542736.3 → XP_011541038.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X1

    Conserved Domains (6) summary
    smart00220
    Location:26 → 291
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:400 → 524
    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 ...
    cd14025
    Location:25 → 303
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:443 → 534
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:539 → 591
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:438 → 469
    ANK; ANK repeat [structural motif]

  3. XM_011542737.3 → XP_011541039.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X3

    Conserved Domains (6) summary
    smart00220
    Location:26 → 281
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:390 → 514
    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 ...
    cd14025
    Location:25 → 293
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:433 → 524
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:529 → 581
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:428 → 459
    ANK; ANK repeat [structural motif]

  4. XM_011542738.2 → XP_011541040.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:326 → 450
    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 ...
    pfam12796
    Location:369 → 460
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:465 → 517
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:364 → 395
    ANK; ANK repeat [structural motif]
    cl21453
    Location:1 → 229
    PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    113398282..113410917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368308.1 → XP_054224283.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X2

  2. XM_054368307.1 → XP_054224282.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X1

  3. XM_054368309.1 → XP_054224284.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X3

  4. XM_054368310.1 → XP_054224285.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFD2.1 GenPept UniProtKB/Swiss-Prot:Q8NFD2

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