KANK1
Summary: The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| KN motif and ankyrin repeat domains 1 | MIM:607704 | Ensembl:ENSG00000107104 | HGNC:HGNC:19309 | PA162392554 | 9p24.3 |
GO terms in KANK1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008013 | beta-catenin binding |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0010977 | negative regulation of neuron projection development |
| BP | IDA | GO:0030177 | positive regulation of Wnt signaling pathway |
| BP | IMP | GO:0030336 | negative regulation of cell migration |
| BP | IBA | GO:0030837 | negative regulation of actin filament polymerization |
| BP | IDA | GO:0030837 | negative regulation of actin filament polymerization |
| BP | IMP | GO:0035024 | negative regulation of Rho protein signal transduction |
| BP | IMP | GO:0046627 | negative regulation of insulin receptor signaling pathway |
| BP | IMP | GO:0090263 | positive regulation of canonical Wnt signaling pathway |
| BP | IMP | GO:0090303 | positive regulation of wound healing |
| BP | IDA | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading |
| BP | IDA | GO:1900028 | negative regulation of ruffle assembly |
| BP | IMP | GO:2000114 | regulation of establishment of cell polarity |
| BP | IDA | GO:2000393 | negative regulation of lamellipodium morphogenesis |
| CC | IEA | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0032587 | ruffle membrane |
Gene expression in normal tissue: KANK1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KANK1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-8939211 | ESR-mediated signaling |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KANK1
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