KANK1

GENE INFORMATION

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Gene name

KANK1 (HGNC Symbol)

Synonyms

ANKRD15, KANK, KIAA0172

Description

KN motif and ankyrin repeat domains 1 (HGNC Symbol)

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 pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

Chromosome

9

Cytoband

p24.3

Chromosome location (bp)

470291 - 746105

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000107104 (version 75.37)

Entrez gene

23189

UniProt

Q14678 (UniProt - Evidence at protein level)

neXtProt

NX_Q14678

Antibodypedia

KANK1 antibodies
 

PROTEIN VIEW

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KANK1-001
 
KANK1-003
 
KANK1-004
 
KANK1-005
 
KANK1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KANK1-001 ENSP00000371740
ENST00000382303
Q14678
Show all »
Show » Show » 1352 147.3 No 0
KANK1-003 ENSP00000371726
ENST00000382289
Q5W0W3
Show all »
Show » Show » 352 38.3 No 0
KANK1-004 ENSP00000371723
ENST00000382286
Q5W0W2
Show all »
Show » Show » 283 30.5 No 0
KANK1-005 ENSP00000371730
ENST00000382293
Q14678
Show all »
Show » Show » 1194 129.8 No 0
KANK1-007 ENSP00000371734
ENST00000382297
Q14678
Show all »
Show » Show » 1352 147.3 No 0