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

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: mouse all
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Genomic context

Location:: 11q23.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (113387779..113400416)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (113398282..113410917)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (113258501..113271138)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly.
Title: ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly.
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.
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.
Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.
Title: Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.
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.
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.
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.
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.
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.
Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia.
Title: Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	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

Process	Evidence Code	Pubs
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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
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

EC 2.7.11.1

XP_011541038.1

EC 2.7.11.1

XP_011541039.1

EC 2.7.11.1

XP_011541040.1

EC 2.7.11.1

XP_016872964.1

EC 2.7.11.1

XP_054224282.1

EC 2.7.11.1

XP_054224283.1

EC 2.7.11.1

XP_054224284.1

EC 2.7.11.1

XP_054224285.1

EC 2.7.11.1

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

NG_012976.1 RefSeqGene

Range

4989..17626

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

113387779..113400416

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

113398282..113410917

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368308.1 → XP_054224283.1 ankyrin repeat and protein kinase domain-containing protein 1 isoform X2
XM_054368307.1 → XP_054224282.1 ankyrin repeat and protein kinase domain-containing protein 1 isoform X1
XM_054368309.1 → XP_054224284.1 ankyrin repeat and protein kinase domain-containing protein 1 isoform X3
XM_054368310.1 → XP_054224285.1 ankyrin repeat and protein kinase domain-containing protein 1 isoform X4