Homo sapiens Protein: KANK1 | |||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||
InnateDB Protein | IDBP-43698.6 | ||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||
Gene Symbol | KANK1 | ||||||||||||||||||||||||||||
Protein Name | KN motif and ankyrin repeat domains 1 | ||||||||||||||||||||||||||||
Synonyms | ANKRD15; CPSQ2; KANK; | ||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000371730 | ||||||||||||||||||||||||||||
InnateDB Gene | IDBG-43688 (KANK1) | ||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||
Function | Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. {ECO:0000269PubMed:16968744, ECO:0000269PubMed:18458160, ECO:0000269PubMed:19171758, ECO:0000269PubMed:22084092}. | ||||||||||||||||||||||||||||
Subcellular Localization | Cell projection, ruffle membrane {ECO:0000269PubMed:12133830, ECO:0000269PubMed:16968744}. Note=Colocalizes with KIF21A in membrane ruffles.Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus.Isoform 2: Cytoplasm. Nucleus. Cell projection, ruffle membrane. Note=Shuttles between the cytoplasm and nucleus. | ||||||||||||||||||||||||||||
Disease Associations | Cerebral palsy, spastic quadriplegic 2 (CPSQ2) [MIM:612900]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. {ECO:0000269PubMed:16301218}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||
Tissue Specificity | Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels. {ECO:0000269PubMed:15823577}. | ||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR020683 Ankyrin repeat-containing domain |
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PFAM |
PF00023
PF13606 PF11929 PF12796 |
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PRINTS |
PR01415
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PIRSF | |||||||||||||||||||||||||||||
SMART |
SM00248
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TIGRFAMs | |||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||
SwissProt | Q14678 | ||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14678 | ||||||||||||||||||||||||||||
TrEMBL | Q8WUM7 | ||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||
Entrez Gene | 23189 | ||||||||||||||||||||||||||||
UniGene | Hs.740869 | ||||||||||||||||||||||||||||
RefSeq | NP_694856 | ||||||||||||||||||||||||||||
HUGO | HGNC:19309 | ||||||||||||||||||||||||||||
OMIM | 607704 | ||||||||||||||||||||||||||||
CCDS | CCDS6441 | ||||||||||||||||||||||||||||
HPRD | 09651 | ||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||
EMBL | AL136979 BC020040 BC037495 CH471071 D79994 | ||||||||||||||||||||||||||||
GenPept | AAH20040 AAH37495 BAA11489 CAH70388 CAM13084 EAW58821 EAW58822 | ||||||||||||||||||||||||||||