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

Gene ID: 255239, updated on 19-Jul-2014
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. [13 Feb 2013]
See ANKK1 in Epigenomics, MapViewer
Location:
11q23.2
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (113387791..113400418)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113258513..113271140)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene neural cell adhesion molecule 1 Neighboring gene NCAM1 antisense RNA1 Neighboring gene tetratricopeptide repeat domain 12 Neighboring gene dopamine receptor D2 Neighboring gene microRNA 4301 Neighboring gene transmembrane protease, serine 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Homology

Gene Ontology Provided by GOA

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

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 

    Range
    5001..17628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_848605.1

    Status: REVIEWED

    Source sequence(s)
    AJ541797
    Consensus CDS
    CCDS44734.1
    UniProtKB/Swiss-Prot
    Q8NFD2
    Related
    ENSP00000306678, OTTHUMP00000236610, ENST00000303941, OTTHUMT00000395830
    Conserved Domains (6) summary
    cd00180
    Location:30281
    Blast Score: 453
    PKc; Catalytic domain of Protein Kinases
    smart00220
    Location:26281
    Blast Score: 460
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00204
    Location:389513
    Blast Score: 354
    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:432523
    Blast Score: 239
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:692744
    Blast Score: 95
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:357402
    Blast Score: 92
    Ank_5; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    113387791..113400418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718809.1XP_006718872.1  

    Conserved Domains (5) summary
    cd00204
    Location:341465
    Blast Score: 350
    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:384475
    Blast Score: 237
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:644696
    Blast Score: 94
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:309354
    Blast Score: 91
    Ank_5; Ankyrin repeats (many copies)
    cl09925
    Location:20233
    Blast Score: 402
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006718810.1XP_006718873.1  

    Conserved Domains (5) summary
    cd00204
    Location:220344
    Blast Score: 353
    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:263354
    Blast Score: 238
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:523575
    Blast Score: 94
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:188233
    Blast Score: 91
    Ank_5; Ankyrin repeats (many copies)
    cl09925
    Location:23112
    Blast Score: 159
    PKc_like; Protein Kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    109186137..109198762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    113141499..113154124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)