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ANKK1 Gene(Protein Coding)

Ankyrin Repeat And Kinase Domain Containing 1

GCID:
GC11P113387
GIFtS:
54
Genes Participants
UDN Logo

Aliases for ANKK1 Gene

Aliases for ANKK1 Gene

  • Ankyrin Repeat And Kinase Domain Containing 1 2 3 5
  • Protein Kinase PKK2 3 4
  • Sugen Kinase 288 3 4
  • EC 2.7.11.1 4 63
  • X-Kinase 3 4
  • SgK288 3 4
  • PKK2 3 4
  • EC 2.7.11 63

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 Alexithymia and Impulse Control Disorder. 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 RIPK2.

Gene Wiki entry for ANKK1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKK1 Gene

Genomics for ANKK1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ANKK1 Gene

Enhancers for ANKK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKK1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ANKK1 gene promoter:

Genomic Location for ANKK1 Gene

Chromosome:
11
Start:
113,386,038 bp from pter
End:
113,400,418 bp from pter
Size:
14,381 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 Structure • Gene Density

RefSeq DNA sequence for ANKK1 Gene

Proteins for ANKK1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for ANKK1 Gene at MOPED

Protein Expression for ANKK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ANKK1 Gene

Q8NFD2:

Post-translational modifications for ANKK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ANKK1 Gene

Gene Families for ANKK1 Gene

HGNC:
IUPHAR :

Protein Domains for ANKK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFD2

UniProtKB/Swiss-Prot:

ANKK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
  • Contains 12 ANK repeats.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Similarity:
  • Contains 12 ANK repeats.
genes like me logo Genes that share domains with ANKK1: view

Function for ANKK1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ANKK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.

Enzyme Numbers (IUBMB) for ANKK1 Gene

Gene Ontology (GO) - Molecular Function for ANKK1 Gene

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

Phenotypes for ANKK1 Gene

GenomeRNAi human phenotypes for ANKK1:
genes like me logo Genes that share phenotypes with ANKK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKK1

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for ANKK1 Gene COMPARTMENTS Subcellular localization image for ANKK1 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKK1 Gene

Pathways & Interactions for ANKK1 Gene

SuperPathways for ANKK1 Gene

PathCards logoMore details on SuperPathways for ANKK1
No Data Available

Gene Ontology (GO) - Biological Process for ANKK1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKK1 Gene

Drugs & Compounds for ANKK1 Gene

Products:

  1. Drug

(13) Drugs for ANKK1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aripiprazole Approved, Investigational Pharma Antagonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 343
Bupropion Approved Pharma 312
Clozapine Approved Pharma Antagonist Antipsychotic medication, Dopamine antagonist with some D4 selectivity. Also 5-HT2A/2C antagonist 113
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
Ethanol Approved Pharma 1924
genes like me logo Genes that share compounds with ANKK1: view

Transcripts for ANKK1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ANKK1 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKK1 Gene

Ankyrin repeat and kinase domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
ANKK1

Expression for ANKK1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for ANKK1 Gene

mRNA expression in normal human tissues for ANKK1 Gene
mRNA expression by BioGPS for ANKK1 GenemRNA expression by GTEx 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, PaxDb, and MOPED for ANKK1 Gene



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.
genes like me logo Genes that share expression patterns with ANKK1: view

Protein tissue co-expression partners for ANKK1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
 Mammalia ANKK1 35
  • 73.08 (n)
  • 64.82 (a)
ANKK1 36
  • 62 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ANKK1 35
  • 85.86 (n)
  • 82.61 (a)
ANKK1 36
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ankk1 35
  • 81.67 (n)
  • 79.54 (a)
Ankk1 16
Ankk1 36
  • 78 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ANKK1 35
  • 98.65 (n)
  • 97.38 (a)
ANKK1 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ankk1 35
  • 80.79 (n)
  • 79.08 (a)
oppossum
(Monodelphis domestica)
 Mammalia ANKK1 36
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ANKK1 35
  • 67.7 (n)
  • 62.77 (a)
ANKK1 36
  • 58 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 20 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ankk1 35
  • 57.9 (n)
  • 55.07 (a)
zebrafish
(Danio rerio)
 Actinopterygii ankk1 35
  • 53.03 (n)
  • 42.88 (a)
ankk1 36
  • 41 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AVO2 38
thale cress
(Arabidopsis thaliana)
 eudicotyledons KEG 35
  • 41.44 (n)
  • 28.99 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 31 (a)
 ManyToMany
-- 36
  • 27 (a)
 ManyToMany
-- 36
  • 28 (a)
 ManyToMany
Species with no ortholog for ANKK1:
  • 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)

Paralogs for ANKK1 Gene

Paralogs for ANKK1 Gene

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

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

Variants for ANKK1 Gene

Sequence variations from dbSNP and Humsavar for ANKK1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1800497 - 113,400,106(-) TGCCT(C/T)GACCA reference, missense
rs7118900 - 113,396,099(+) GAGTG(A/G)CGGCA reference, missense
rs11604671 - 113,397,337(+) AGCCC(A/G/T)GGGAG reference, missense
rs4938016 - 113,399,293(+) ATGAC(A/C/G/T)GCACT reference, missense
rs2734849 - 113,399,438(-) CCTCA(C/G/T)GCAGG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv515795 CNV Loss 19592680

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)

Relevant External Links for ANKK1 Gene

Human Gene Mutation Database (HGMD)
ANKK1

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

Disorders for ANKK1 Gene

MalaCards: The human disease database

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

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

Relevant External Links for ANKK1

Genetic Association Database (GAD)
ANKK1
Human Genome Epidemiology (HuGE) Navigator
ANKK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKK1
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 M.J. … Walton R.T. (Hum. Mutat. 2004) 2 3 4 23 67
  2. Genetic diagnostics of functional variants of the human dopamine D2 receptor gene. (PMID: 19512960) Doehring A. … LAPtsch J. (Psychiatr. Genet. 2009) 3 23
  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 T.W. … Tsongalis G.J. (Brain Inj 2008) 3 23
  4. Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. (PMID: 17850642) Dick D.M. … Goate A. (Alcohol. Clin. Exp. Res. 2007) 3 23
  5. Evaluation of a structural polymorphism in the ankyrin repeat and kinase domain containing 1 (ANKK1) gene and the activation of executive attention networks. (PMID: 16869231) Fossella J. … Fan J. (Cogn Affect Behav Neurosci 2006) 3 23

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Sources for ANKK1 Gene

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