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 t... See more...

Aliases for ANKK1 Gene

Aliases for ANKK1 Gene

  • Ankyrin Repeat And Kinase Domain Containing 1 2 3 5
  • Ankyrin Repeat And Protein Kinase Domain-Containing Protein 1 3 4
  • Protein Kinase PKK2 3 4
  • Sugen Kinase 288 3 4
  • EC 2.7.11.1 4 52
  • X-Kinase 3 4
  • SgK288 3 4
  • PKK2 3 4
  • EC 2.7.11 52
  • SGK288 4

External Ids for ANKK1 Gene

Previous GeneCards Identifiers for ANKK1 Gene

  • GC11P113292
  • GC11P112796
  • GC11P112763
  • GC11P109186
  • GC11P113258

Summaries for ANKK1 Gene

Entrez Gene Summary for ANKK1 Gene

  • 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]

GeneCards Summary for ANKK1 Gene

ANKK1 (Ankyrin Repeat And Kinase Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKK1 include Impulse Control Disorder and Alexithymia. Among its related pathways are Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is RIPK4.

Gene Wiki entry for ANKK1 Gene

Additional gene information for ANKK1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKK1 Gene

Genomics for ANKK1 Gene

GeneHancer (GH) Regulatory Elements for ANKK1 Gene

Promoters and enhancers for ANKK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J113387 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +1.9 1926 1.1 CTCF HDAC2 EZH2 POLR2A YY1 NANOG PHF8 TCF12 RAD21 JUND ANKK1 DRD2 ENSG00000256757
GH11J113383 Enhancer 0.8 Ensembl ENCODE 500.7 -1.1 -1137 3 ZNF217 JUND FOS CTBP1 OSR2 GATA3 STAT3 ZNF189 ESR1 GATA2 ANKK1 TTC12 lnc-DRD2-5
GH11J113312 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -71.6 -71615 3.6 EP300 SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 ZFX ZBTB10 POLR2A TTC12 ENSG00000255129 DRD2 ENSG00000256757 ANKK1 NCAM1-AS1
GH11J113278 Enhancer 0.4 dbSUPER 5.2 -106.6 -106642 1.7 SMC3 CTCF RAD21 POLR2A TTC12 ANKK1 NCAM1-AS1 ENSG00000255129
GH11J113370 Enhancer 0.2 Ensembl 6.4 -15.6 -15637 0.4 ENSG00000270179 ANKK1 lnc-DRD2-5 TTC12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKK1

Top Transcription factor binding sites by QIAGEN in the ANKK1 gene promoter:
  • AREB6
  • C/EBPbeta
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • p53
  • POU2F1
  • POU2F1a
  • POU2F1b

Genomic Locations for ANKK1 Gene

Genomic Locations for ANKK1 Gene
chr11:113,386,038-113,400,418
(GRCh38/hg38)
Size:
14,381 bases
Orientation:
Plus strand
chr11:113,258,513-113,271,140
(GRCh37/hg19)
Size:
12,628 bases
Orientation:
Plus strand

Genomic View for ANKK1 Gene

Genes around ANKK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKK1 Gene

Proteins for ANKK1 Gene

  • Protein details for ANKK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFD2-ANKK1_HUMAN
    Recommended name:
    Ankyrin repeat and protein kinase domain-containing protein 1
    Protein Accession:
    Q8NFD2

    Protein attributes for ANKK1 Gene

    Size:
    765 amino acids
    Molecular mass:
    84632 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANKK1 Gene

Selected DME Specific Peptides for ANKK1 Gene

Q8NFD2:
  • KPGNILL
  • LHLDLKP

Post-translational modifications for ANKK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKK1 Gene

Domains & Families for ANKK1 Gene

Gene Families for ANKK1 Gene

Suggested Antigen Peptide Sequences for ANKK1 Gene

GenScript: Design optimal peptide antigens:
  • X-kinase (ANKK1_HUMAN)
  • Ankyrin repeat and protein kinase domain-containing protein 1 (B0YIV3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFD2

UniProtKB/Swiss-Prot:

ANKK1_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
genes like me logo Genes that share domains with ANKK1: view

Function for ANKK1 Gene

Molecular function for ANKK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

Enzyme Numbers (IUBMB) for ANKK1 Gene

Phenotypes From GWAS Catalog for ANKK1 Gene

Gene Ontology (GO) - Molecular Function for ANKK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with ANKK1: view
genes like me logo Genes that share phenotypes with ANKK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKK1

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKK1 Gene

Localization for ANKK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKK1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ANKK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 27166167
GO:0005737 cytoplasm IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ANKK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ANKK1 Gene

Pathways & Interactions for ANKK1 Gene

genes like me logo Genes that share pathways with ANKK1: view

Pathways by source for ANKK1 Gene

Gene Ontology (GO) - Biological Process for ANKK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0010564 regulation of cell cycle process IDA 27166167
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ANKK1: view

No data available for SIGNOR curated interactions for ANKK1 Gene

Drugs & Compounds for ANKK1 Gene

(16) Drugs for ANKK1 Gene - From: DrugBank and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Aripiprazole Approved, Investigational Pharma Antagonist, Full agonist, Agonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 395
Bupropion Approved Pharma 373
Clozapine Approved Pharma Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist Antipsychotic medication 134
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 46
genes like me logo Genes that share compounds with ANKK1: view

Transcripts for ANKK1 Gene

mRNA/cDNA for ANKK1 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKK1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2:

Relevant External Links for ANKK1 Gene

GeneLoc Exon Structure for
ANKK1

Expression for ANKK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKK1 Gene

mRNA differential expression in normal tissues according to GTEx for ANKK1 Gene

This gene is overexpressed in Pituitary (x5.5) and Skin - Sun Exposed (Lower leg) (x4.0).

Protein differential expression in normal tissues from HIPED for ANKK1 Gene

This gene is overexpressed in Lung (56.5) and Heart (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKK1 Gene



Protein tissue co-expression partners for ANKK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKK1

SOURCE GeneReport for Unigene cluster for ANKK1 Gene:

Hs.448473

mRNA Expression by UniProt/SwissProt for ANKK1 Gene:

Q8NFD2-ANKK1_HUMAN
Tissue specificity: Highly expressed in brain and weakly expressed in placenta and spinal cord.

Evidence on tissue expression from TISSUES for ANKK1 Gene

  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with ANKK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKK1 Gene

Orthologs for ANKK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ANKK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKK1 31 30
  • 98.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKK1 31 30
  • 85.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankk1 17 31 30
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Ankk1 30
  • 80.79 (n)
cow
(Bos Taurus)
Mammalia ANKK1 31 30
  • 73.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKK1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKK1 31 30
  • 67.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ankk1 30
  • 57.9 (n)
zebrafish
(Danio rerio)
Actinopterygii ankk1 31 30
  • 53.03 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVO2 33
thale cress
(Arabidopsis thaliana)
eudicotyledons KEG 30
  • 41.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
Species where no ortholog for ANKK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKK1 Gene

ENSEMBL:
Gene Tree for ANKK1 (if available)
TreeFam:
Gene Tree for ANKK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKK1: view image

Paralogs for ANKK1 Gene

Paralogs for ANKK1 Gene

(13) SIMAP similar genes for ANKK1 Gene using alignment to 3 proteins:

  • ANKK1_HUMAN
  • B0YIV3_HUMAN
  • H0YH32_HUMAN
genes like me logo Genes that share paralogs with ANKK1: view

Variants for ANKK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKK1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
638474 Uncertain Significance: not specified 113,396,150(+) G/A MISSENSE_VARIANT
rs1800497 Drug Response: Dopamine receptor d2, reduced brain density of; not specified; antipsychotics response - Toxicity/ADR; bupropion response - Efficacy; clozapine response - Toxicity/ADR; ethanol response - Toxicity/ADR; olanzapine response - Toxicity/ADR; risperidone response - Toxicity/ADR. - 113,400,106(+) G/Ap.Glu713Lys MISSENSE_VARIANT
VAR_040362 A breast infiltrating ductal carcinoma sample p.Lys347Thr
VAR_040372 A lung large cell carcinoma sample p.Gln717Leu
VAR_040373 A lung squamous cell carcinoma sample p.Arg736Leu

Additional dbSNP identifiers (rs#s) for ANKK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKK1 Gene

Variant ID Type Subtype PubMed ID
nsv1040152 CNV loss 25217958
nsv483080 CNV loss 15286789
nsv515795 CNV loss 19592680
nsv556444 CNV gain 21841781
nsv556445 CNV loss 21841781

Variation tolerance for ANKK1 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.49; 88.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKK1 Gene

Human Gene Mutation Database (HGMD)
ANKK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKK1 Gene

Disorders for ANKK1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ANKK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
impulse control disorder
  • disruptive, impulse control, and conduct disorders
alexithymia
antisocial personality disorder
  • asocial personality
heroin dependence
drug dependence
- elite association - COSMIC cancer census association via MalaCards
Search ANKK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ANKK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKK1 Gene

Publications for ANKK1 Gene

  1. Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. (PMID: 15146457) Neville MJ … Walton RT (Human mutation 2004) 2 3 4 23 54
  2. Genetic diagnostics of functional variants of the human dopamine D2 receptor gene. (PMID: 19512960) Doehring A … Lötsch J (Psychiatric genetics 2009) 3 23 41 54
  3. Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study. (PMID: 18698520) McAllister TW … Tsongalis GJ (Brain injury 2008) 3 23 41 54
  4. Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. (PMID: 17850642) Dick DM … Goate A (Alcoholism, clinical and experimental research 2007) 3 23 41 54
  5. The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. (PMID: 14741327) Dubertret C … Gorwood P (Schizophrenia research 2004) 3 4 23 54

Products for ANKK1 Gene

Sources for ANKK1 Gene