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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]
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.
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 | 1.1 | EPDnew Ensembl ENCODE | 250.7 | +2.1 | 2050 | 0.9 | CTCF YY1 TAF1 RAD21 ZNF143 POLR2A | ANKK1 DRD2 HSALNG0087247 | |
GH11J113383 | Enhancer | 0.7 | Ensembl ENCODE | 250.7 | -1.0 | -1013 | 2.8 | ZNF217 CTBP1 JUND ZNF189 BHLHE40 OSR2 EP300 CEBPB FOS PRDM1 | ANKK1 TTC12 lnc-DRD2-5 | |
GH11J113312 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 10.5 | -71.6 | -71591 | 3.6 | TBP ZBTB10 SP1 MXD4 NR2C1 MNT ZFP64 POLR2A THAP11 SIN3A | TTC12 ENSG00000255129 DRD2 ENSG00000256757 ANKK1 NCAM1-AS1 NCAM1 | |
GH11J113370 | Enhancer | 0.5 | Ensembl | 6.3 | -15.6 | -15613 | 0.8 | ZNF316 MAFG RCOR1 GATA2 CBFA2T2 CBFA2T3 NFIC EMSY | ENSG00000270179 HSALNG0087241 HSALNG0087243 ANKK1 TTC12 | |
GH11J113278 | Enhancer | 0.4 | dbSUPER | 5.2 | -106.6 | -106618 | 1.7 | CTCF RAD21 POLR2A | TTC12 ANKK1 NCAM1-AS1 ENSG00000255129 NCAM1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 27166167 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0042995 | cell projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics |
Symbol | External ID(s) | Details |
---|---|---|
C12orf57 | ||
CHN1 | ||
CHN2 | ||
DRD2 | ||
ENSG00000272822 |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Aripiprazole | Approved, Investigational | Pharma | Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist | 401 | ||
Bupropion | Approved | Pharma | 409 | |||
Disulfiram | Approved | Pharma | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 53 | ||
Ethanol | Approved | Pharma | 3481 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANKK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANKK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ankk1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ankk1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ANKK1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ANKK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANKK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ankk1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ankk1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AVO2 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | KEG 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113005509 | Benign: not provided | 113,399,728(+) |
G/T NM_178510.2(ANKK1):c.1759G>T (p.Glu587Ter) |
NONSENSE | |
rs114700049 | Benign: not provided | 113,399,646(+) |
C/T NM_178510.2(ANKK1):c.1677C>T (p.Ser559=) |
SYNONYMOUS | |
rs114976452 | Benign: not provided | 113,398,957(+) |
C/G NM_178510.2(ANKK1):c.995-7C>G |
INTRON | |
rs115800217 | Benign: not provided | 113,395,002(+) |
G/A NM_178510.2(ANKK1):c.554G>A (p.Arg185Gln) |
MISSENSE | |
rs138608171 | Likely Benign: not provided | 113,397,225(+) |
C/A NM_178510.2(ANKK1):c.840C>A (p.Asp280Glu) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
impulse control disorder |
|
|
alexithymia |
|
|
heroin dependence |
|
|
antisocial personality disorder |
|
|
drug dependence |
|
|