人 BEAN1 (NM_001197225) cDNA克隆

Accession: NM_001197225
基因名称: BEAN1
基因别名: BEAN; SCA31
基因描述: Homo sapiens brain expressed, associated with NEDD4, 1 (BEAN1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 627 (查看编码区序列)
翻译后氨基酸长度: 208 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and contains alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
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G131657 人 BEAN1 (NM_001197225) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]