人 SMARCA4 (NM_001128849) cDNA克隆

Accession: NM_001128849
基因名称: SMARCA4
基因别名: BRG1; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A
基因描述: Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 1, mRNA.
种属: Human
CDS区长度: 5040 (查看编码区序列)
翻译后氨基酸长度: 1679 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longest isoform (A, also known as 2). There are no publicly available full-length transcripts representing the exon combination of this variant; it is based on mRNA annotation on DNA accession AF254822.1, which is derived from data in PMID:11085541.
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G158551 人 SMARCA4 (NM_001128849) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]