InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-43690

KN motif and ankyrin repeat domains 1

IDBP-43692

KN motif and ankyrin repeat domains 1

IDBP-43698

KN motif and ankyrin repeat domains 1

IDBP-43700

KN motif and ankyrin repeat domains 1

IDBP-43702

KN motif and ankyrin repeat domains 1

IDBP-813455

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

ENSMUSG00000032702

View Gene Order

Ortholuge

SSD Ortholog

Ortholog supports species divergence

ENSBTAG00000010976

Not yet available

Ortholuge

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