Homo sapiens Gene: KANK1
Summary
InnateDB Gene IDBG-43688.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KANK1
Gene Name KN motif and ankyrin repeat domains 1
Synonyms ANKRD15; CPSQ2; KANK;
Species Homo sapiens
Ensembl Gene ENSG00000107104
Encoded Proteins
KN motif and ankyrin repeat domains 1
KN motif and ankyrin repeat domains 1
KN motif and ankyrin repeat domains 1
KN motif and ankyrin repeat domains 1
KN motif and ankyrin repeat domains 1
KN motif and ankyrin repeat domains 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 pseuodgene has been identified on chromosome 20. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:470291-746106
Strand Forward strand
Band p24.3
Transcripts
ENST00000382303 ENSP00000371740
ENST00000382297 ENSP00000371734
ENST00000354485
ENST00000382293 ENSP00000371730
ENST00000382289 ENSP00000371726
ENST00000382286 ENSP00000371723
ENST00000467541
ENST00000475690
ENST00000489369
ENST00000619269 ENSP00000477725
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008013 beta-catenin binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0010977 negative regulation of neuron projection development
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030336 negative regulation of cell migration
GO:0030837 negative regulation of actin filament polymerization
GO:0035024 negative regulation of Rho protein signal transduction
GO:0035413 positive regulation of catenin import into nucleus
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0090303 positive regulation of wound healing
GO:1900025 negative regulation of substrate adhesion-dependent cell spreading
GO:1900028 negative regulation of ruffle assembly
GO:2000114 regulation of establishment of cell polarity
GO:2000393 negative regulation of lamellipodium morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0032587 ruffle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL Q5W0W3
UniProt Splice Variant
Entrez Gene 23189
UniGene Hs.608989 Hs.740869
RefSeq NM_001256876 NM_001256877 NM_015158 NM_153186 XM_006716744
HUGO HGNC:19309
OMIM 607704
CCDS CCDS34976 CCDS6441
HPRD 09651
IMGT
EMBL AL136979 AL161725 AL392089
GenPept
RNA Seq Atlas 102723606 23189