ANKK1 Gene
protein-coding GIFtS: 49
GCID: GC11P113258
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|
ankyrin repeat and kinase domain containing 1
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Aliases
for ANKK1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ankyrin Repeat And Kinase Domain Containing 11 2 | | Ankyrin Repeat And Protein Kinase Domain-Containing Protein 12 | | X-Kinase1 | | SgK2883 | | Protein Kinase PKK22 3 | | SGK2883 | | Sugen Kinase 2882 3 | | SgK2883 | | PKK22 3 | | EC 2.7.118 | | EC 2.7.11.13 8 | | |
Export aliases for ANKK1 gene to outside databasesPrevious GC identifers: GC11P113292 GC11P112796 GC11P112763 GC11P109186 |
Summaries
for ANKK1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ANKK1:
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involvedin signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studiedrestriction 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 anonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorderspreviously associated with Taq1A RFLP. (provided by RefSeq, Sep 2009)
Gene Wiki entry for ANKK1
|
Genomic Views
for ANKK1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_033899.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ANKK1 gene promoter:
HFH-3 C/EBPbeta p53 AREB6 FOXI1 POU2F1 POU2F1b POU2F1a FOXJ2 (long isoform) FOXJ2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ANKK1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKK1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q23.2 Ensembl cytogenetic band: 11q23.2 HGNC cytogenetic band: 11q23.2ANKK1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P113258: view genomic region
(about GC identifiers)
Start:
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113,258,513 bp from pter |
End:
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113,271,140 bp from pter |
Size:
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12,628 bases |
Orientation:
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plus strand |
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Proteins
for ANKK1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ANKK1_HUMAN, Q8NFD2 (See
protein sequence)Recommended Name: Ankyrin repeat and protein kinase domain-containing protein 1 Size: 765 amino acids; 84632 DaExplore the universe of human proteins at neXtProt for ANKK1: NX_Q8NFD2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NFD2
2 DME Specific Peptides for ANKK1 (Q8NFD2)
ANKK1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_848605.1
ENSEMBL proteins: ENSP00000306678 ENSP00000445810
Human Recombinant Protein Products:
ANKK1 Antibody Products:
Assay Products for ANKK1: |
Protein
Domains /
Families
for ANKK1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ANKK1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q8NFD2ProtoNet protein and cluster: Q8NFD2 UniProtKB/Swiss-Prot: ANKK1_HUMAN, Q8NFD2Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase familySimilarity: Contains 12 ANK repeatsSimilarity: Contains 1 protein kinase domain |
Function
for ANKK1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ANKK1_HUMAN, Q8NFD2Catalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKK1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKK1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004674 | protein serine/threonine kinase activity |
IEA | -- | | GO:0005524 | ATP binding |
IEA | -- |
ANKK1 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for ANKK1:
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Pathways & Interactions
for ANKK1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANKK1
|
Drugs & Compounds
for ANKK1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ANKK1 for compounds About GeneDecksing
 Browse Tocris compounds for ANKK1
9 PharmGKB related drug/compound annotations for ANKK1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about ANKK1
|
Transcripts
for ANKK1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ANKK1 gene: NM_178510.1 Unigene Cluster for ANKK1: Ankyrin repeat and kinase domain containing 1 Hs.448473 [show with all ESTs]Unigene Representative Sequence: AJ5417972 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000303941(uc001pny.3) ENST00000542948
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANKK1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKK1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ANKK1 (NM_178510) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANKK1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKK1 |
Additional cDNA sequence: AF487542.1 AJ541797.2 1 DOTS entry: DT.100736992 3 AceView cDNA sequences: NM_178510 AF487542 AJ541797
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for ANKK1 About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 |
|---|
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| SP1: | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ANKK1
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Expression
for ANKK1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ANKK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ANKK1 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.448473
UniProtKB/Swiss-Prot: ANKK1_HUMAN, Q8NFD2Tissue specificity: Highly expressed in brain and weakly expressed in placenta and spinal cord
SABiosciences Custom PCR Arrays for ANKK1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ANKK1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKK1 |
Orthologs
for ANKK1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ANKK1 gene from 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for ANKK1 (if available)
TreeFam Gene Tree for ANKK1 (if available) |
Paralogs
for ANKK1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ANKK1 gene
- RIPK32 RIPK42 RIPK12 RIPK22
15 SIMAP similar genes for ANKK1 using alignment to 3 protein entries: ANKK1_HUMAN (see all proteins):IkBa MARK4 NRARP DKFZp434B2328 PSMD10 PPP1R12A
CDKN2C CDKN2D dik ANKRD29 RIPK4 NUAK1
ANKDD1A DKFZp761E1322 MTPN
ANKK1 for paralogs About GeneDecksing
|
Genomic Variants
for ANKK1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ANKK1 (113258513 - 113271140 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for ANKK1
3 CNVs: 48696 48695 48697
2 Indels: 48699 48698
Human Gene Mutation Database (HGMD): ANKK1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKK1 |
|
Disorders
/ Diseases
for ANKK1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ANKK1 for disorders About GeneDecksing
OMIM gene information: 608774
OMIM disorders: --
20/23  diseases for ANKK1 (see all 23): About MalaCardspityriasis rubra pilaris erythrokeratodermia variabilis keratinizing squamous cell carcinoma traumatic brain injury
tardive dyskinesia neuroleptic malignant syndrome microcystic adenoma brain injury
nicotine dependence cocaine dependence bipolar i disorder drug dependence
alcohol abuse alcohol dependence squamous cell carcinoma alcoholism
adhd adenoma schizophrenia obesity
4 diseases from the University of Copenhagen DISEASES database for ANKK1:Nicotine dependence Alcohol dependence Antisocial personality disorder Alexithymia Human Genome Epidemiology (HuGE) Navigator: ANKK1 (39 documents)
Export disorders for ANKK1 gene to outside databases
|
Publications
for ANKK1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ANKK1 gene, integrated from 9 sources (see all 75):
(articles sorted by number of sources associating them with ANKK1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. (PubMed id 15146457)1, 2, 3, 9 Neville M.J.... Walton R.T. (2004)
- The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. (PubMed id 14741327)1, 2, 9 Dubertret C....Gorwood P. (2004)
- The protein kinase complement of the human genome. (PubMed id 12471243)1, 2 Manning G.... Sudarsanam S. (2002)
- Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. (PubMed id 17850642)1, 9 Dick D.M....Goate A. (2007)
- Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study. (PubMed id 18698520)1, 9 McAllister T.W....Tsongalis G.J. (2008)
- Evaluation of a structural polymorphism in the ankyrin repeat and kinase domain containing 1 (ANKK1) gene and the activation of executive attention networks. (PubMed id 16869231)1, 9 Fossella J....Fan J. (2006)
- Genetic diagnostics of functional variants of the hum an dopamine D2 receptor gene. (PubMed id 19512960)1, 9 Doehring A....LAPtsch J. (2009)
- DRD2/ANKK1 TaqIA and SLC6A3 VNTR polymorphisms in alco hol dependence: association and gene-gene interaction study in a population of C entral Italy. (PubMed id 22698582)1 Mignini F....Ceccanti M. (2012)
- A DRD2 and ANKK1 haplotype is associated with nicotine dependence. (PubMed id 22382052)1 Voisey J....Morris C.P. (2012)
- Pharmacogenomic associations with weight gain in olanz apine treatment of patients without schizophrenia. (PubMed id 22967772)1 Houston J.P....Fijal B.A. (2012)
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External Searches for ANKK1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ANKK1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ANKK1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ANKK1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ANKK1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ANKK1 gene:
Search GeneIP for patents involving ANKK1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ANKK1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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