ANKK1 Gene: Ankyrin Repeat and Kinase Domain Containing 1
Genetic insights into ANKK1, a key gene in dopamine receptor signaling and neuropsychiatric disorders.
Gene Information Card
| Symbol | ANKK1 |
|---|---|
| Full Name | Ankyrin repeat and kinase domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 255239 ncbi.nlm.nih.gov/gene/255239 |
| Ensembl ID | ENSG00000170214 |
| UniProt ID | Q8NFH3 |
| OMIM ID | 608774 |
| HGNC ID | 21016 |
| Aliases | PKK2, RP1-278O11.2 |
Description
The ANKK1 gene (ankyrin repeat and kinase domain containing 1) encodes a protein with ankyrin repeats and a serine/threonine kinase domain. It is located adjacent to the dopamine receptor D2 (DRD2) gene on chromosome 11q23.2. The ANKK1 protein is involved in signal transduction pathways, and its Taq1A polymorphism (rs1800497) has been extensively studied in relation to dopamine signaling, addiction, and neuropsychiatric disorders. The gene is expressed in various brain regions and peripheral tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol dependence | The Taq1A polymorphism (rs1800497) in ANKK1 is associated with altered DRD2 expression and dopamine receptor density, influencing reward pathways and addiction risk. | Multiple case-control and meta-analysis studies (e.g., NCBI PubMed, ClinVar). |
| Tourette syndrome | ANKK1 variants may modulate dopaminergic neurotransmission, contributing to tic disorders. | Genetic association studies (OMIM #608774). |
| Schizophrenia | Polymorphisms in ANKK1 have been linked to dopamine dysregulation and antipsychotic response variability. | ClinVar and GWAS catalog entries. |
| Bipolar disorder | ANKK1 variants may affect mood regulation through dopamine pathway modulation. | Case-control studies (NCBI Gene). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Medium |
| Brain (cerebellum) | 3.8 | Low |
| Testis | 2.1 | Low |
| Liver | 1.0 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.5 | Neuronal model |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| HepG2 (liver cancer) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1800497 (Taq1A) | SNP (C>T) | 0.18 (global) | Alters DRD2 expression; associated with addiction and psychiatric disorders. |
| rs2734849 | SNP (G>A) | 0.12 | May affect ANKK1 kinase activity; linked to bipolar disorder. |
| rs7118900 | SNP (T>C) | 0.08 | Intronic variant; potential regulatory effect. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in ANKK1; most variants are regulatory or non-coding.
Gain of Function (GOF)
Not established; the Taq1A polymorphism may indirectly alter DRD2 expression but does not directly affect ANKK1 kinase activity.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 (protein kinase activity) | • GO:0005515 (protein binding) |
| • GO:0006468 (protein phosphorylation) | • GO:0005737 (cytoplasm) |
| • GO:0005886 (plasma membrane) |
Pathways
• Dopamine receptor signaling pathway (via DRD2 interaction)
• Signal transduction (kinase cascade)
Protein Summary
The ANKK1 protein (UniProt Q8NFH3) contains an N-terminal ankyrin repeat domain and a C-terminal serine/threonine kinase domain. It is predicted to function as a kinase involved in intracellular signaling, potentially modulating dopamine receptor pathways. The protein is expressed in brain regions relevant to reward and cognition. Structural studies are limited, but its proximity to DRD2 and association with psychiatric phenotypes underscore its biological significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKK1 Knockout HEK293 Cell Line | EDJ-KQ1979 | Human | 255239 | Details Get a Quote |
| ANKK1 Knockout HeLa Cell Line | EDJ-KQ59276 | Human | 255239 | Details Get a Quote |
| ANKK1 Knockout A-549 Cell Line | EDJ-KQ67742 | Human | 255239 | Details Get a Quote |
| ANKK1 Knockout HCT 116 Cell Line | EDJ-KQ76127 | Human | 255239 | Details Get a Quote |
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