人 KLHL3 (NM_001257195) cDNA克隆

基本信息

Accession: NM_001257195
基因名称: KLHL3
基因别名: PHA2D
基因描述: Homo sapiens kelch-like family member 3 (KLHL3), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1518 (查看编码区序列)
翻译后氨基酸长度: 505 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks multiple 5' coding exons and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 3; also known as KLHL3c) with a shorter N-terminus, compared to isoform 1. This isoform is predicted to lack the protein binding BTB domain that is present in isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G109341 人 KLHL3 (NM_001257195) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 KLHL3 (NM_017415) cDNA克隆 transcript variant 1
人 KLHL3 (NM_001257194) cDNA克隆 transcript variant 2
人 KLHL3 (NM_001257195) cDNA克隆 transcript variant 3

基因简介

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

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