人 KANK1 (NM_153186) cDNA克隆

Accession: NM_153186
基因名称: KANK1
基因别名: KANK; CPSQ2; ANKRD15
基因描述: Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3585 (查看编码区序列)
翻译后氨基酸长度: 1194 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The resulting isoform (b, also known as Kank-S) is shorter at the N-terminus, compared to isoform a.
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G140275 人 KANK1 (NM_153186) cDNA克隆 pDONR223 2ug质粒 点击询价

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]