KANK1

Also known as ANKRD15, CPSQ2, KANK, KN motif and ankyrin repeat domains 1

KN motif and ankyrin repeat domain-containing protein 1 is a protein that in humans is encoded by the KANK1 gene.

In the Vinony graph

Vinony's link graph records 4 inbound references to KANK1, and connects out to PubMed, human chromosome 9 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 9.

Vinony links it to 5 Wikipedia language editions.

Gene data

KANK1

Name: KN motif and ankyrin repeat domains 1
Type: protein-coding
Position: 470,289–746,105 (+)
Aliases: ANKRD15, CPSQ2, KANK
Ensembl: ENSG00000107104
RefSeq RNA: NM_001256876.3, NM_001256877.3, NM_001354331.2, NM_001354332.2, NM_001354333.2
RefSeq protein: NP_001243805.1, NP_001243806.1, NP_001341260.1, NP_001341261.1, NP_001341262.1

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].

Gene Ontology

Biological process

establishment or maintenance of cell polarity cell population proliferation negative regulation of neuron projection development actin cytoskeleton organization positive regulation of Wnt signaling pathway negative regulation of cell migration negative regulation of actin filament polymerization negative regulation of actin filament polymerization

Molecular function

protein binding beta-catenin binding protein-macromolecule adaptor activity

Cellular component

nucleus nucleus nucleus cytoplasm cytoplasm cytoplasm cytoplasm cytoskeleton

Pathways

Signal Transduction Disease Diseases of signal transduction by growth factor receptors and second messengers ESR-mediated signaling Signaling by Nuclear Receptors Estrogen-dependent gene expression Signaling by PDGFR in disease Signaling by membrane-tethered fusions of PDGFRA or PDGFRB VEGFA-VEGFR2 Signaling Pathway

via MyGene.info

Gene · Ensembl

KN motif and ankyrin repeat domains 1

Symbol: KANK1
Biotype: Protein coding
Organism: Homo sapiens
Location: 9:470,289-746,105
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 17706
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/23189
chromosome: human chromosome 9
genomic start: 470291
genomic end: 746105
cytogenetic location: 9p24.3

Sources (3)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

References
External links
Further reading

KN motif and ankyrin repeat domain-containing protein 1 is a protein that in humans is encoded by the KANK1 gene.

This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is in tumorigenesis of renal cell carcinoma. Two alternatively spliced transcript variants encoding different isoforms have been identified.

Excerpted from Wikipedia’s “KANK1” article, available under the CC BY-SA 4.0 licence.