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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
KN motif and ankyrin repeat domains 1MIM:607704Ensembl:ENSG00000107104HGNC:HGNC:19309PA1623925549p24.3

GO terms in KANK1


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFIDAGO:0008013beta-catenin binding
BPIEAGO:0006351transcription, DNA-templated
BPIEAGO:0006355regulation of transcription, DNA-templated
BPIDAGO:0010977negative regulation of neuron projection development
BPIDAGO:0030177positive regulation of Wnt signaling pathway
BPIMPGO:0030336negative regulation of cell migration
BPIBAGO:0030837negative regulation of actin filament polymerization
BPIDAGO:0030837negative regulation of actin filament polymerization
BPIMPGO:0035024negative regulation of Rho protein signal transduction
BPIMPGO:0046627negative regulation of insulin receptor signaling pathway
BPIMPGO:0090263positive regulation of canonical Wnt signaling pathway
BPIMPGO:0090303positive regulation of wound healing
BPIDAGO:1900025negative regulation of substrate adhesion-dependent cell spreading
BPIDAGO:1900028negative regulation of ruffle assembly
BPIMPGO:2000114regulation of establishment of cell polarity
BPIDAGO:2000393negative regulation of lamellipodium morphogenesis
CCIEAGO:0005634nucleus
CCIBAGO:0005737cytoplasm
CCIEAGO:0005737cytoplasm
CCIBAGO:0005856cytoskeleton
CCIDAGO:0005886plasma membrane
CCIDAGO:0032587ruffle membrane

Gene expression in normal tissue: KANK1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in KANK1


DatabasePathway IDPathway Des.
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-8939211ESR-mediated signaling
reactomeR-HSA-9006931Signaling by Nuclear Receptors
reactomeR-HSA-9018519Estrogen-dependent gene expression

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in KANK1

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