KN Motif-and Ankyrin Repeat Domain-Containing Protein 1

Alternative Names

  • KANK1
  • Kidney Ankyrin Repeat-Containing Protein
  • KANK
  • Ankyrin Repeat Domain-Containing Protein 15
  • ANKRD15
  • KIAA0172
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OMIM Number

607704

NCBI Gene ID

23189

Uniprot ID

Q14678

Length

275,816 bases

No. of Exons

28

No. of isoforms

2

Protein Name

KN motif and ankyrin repeat domain-containing protein 1

Molecular Mass

147289 Da

Amino Acid Count

1352

Genomic Location

chr9:470,291-746,106

Gene Map Locus
9p24.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015158.5:c.1079G>AUnited Arab EmiratesNC_000009.12:g.711845G>ABenignNG_016331.2:g.246552G>A; NM_015158.5:c.1079G>A; NP_055973.2:p.Ser360Asn1270161736
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