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

Gene ID: 255239, updated on 4-Sep-2022

Summary

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

See ANKK1 in Genome Data Viewer
Location:
11q23.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113387779..113400416)
110 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 tetratricopeptide repeat domain 12 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene dopamine receptor D2 Neighboring gene microRNA 4301 Neighboring gene uncharacterized LOC105369501

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell cycle process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_178510.2NP_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:26281
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:389513
    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:25293
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:432523
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:528580
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:427458
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017017475.2XP_016872964.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X2

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

    Conserved Domains (6) summary
    smart00220
    Location:26291
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:400524
    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:25303
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:443534
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:539591
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:438469
    ANK; ANK repeat [structural motif]
  3. XM_011542737.3XP_011541039.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X3

    Conserved Domains (6) summary
    smart00220
    Location:26281
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:390514
    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:25293
    STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
    pfam12796
    Location:433524
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:529581
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:428459
    ANK; ANK repeat [structural motif]
  4. XM_011542738.2XP_011541040.1  ankyrin repeat and protein kinase domain-containing protein 1 isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:326450
    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:369460
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:465517
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:364395
    ANK; ANK repeat [structural motif]
    cl21453
    Location:1229
    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)