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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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    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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