The human lamin B receptor/sterol reductase multigene family
The human lamin B receptor/sterol reductase multigene family
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DOI：
10.1006/geno.1998.5615
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发表时间：
1998-12-15
期刊：
影响因子：
4.4
通讯作者：
Worman, HJ
中科院分区：
文献类型：
--
作者：
Holmer, L;Pezhman, A;Worman, HJ
LBR（核纤层蛋白 B 受体）是由人类染色体 1q42.1 上的基因编码的内核膜整合蛋白。 LBR 具有约 200 个氨基酸的核质氨基末端结构域，其后是羧基末端结构域，其序列与酵母和植物甾醇还原酶相似。我们已经确定了两种人类蛋白质的一级结构，它们与 LBR 和甾醇还原酶的羧基末端结构域具有很强的序列相似性。他们的基因最近被指定为符号 TM7SF2 和 DHCR7。 TM7SF2 mRNA 主要在心脏中表达，DHCR7 mRNA 主要在肝脏和脑中表达。 LBR 位于内核膜，而这两种相关蛋白则位于内质网中。 TM7SF2基因含有10个编码外显子，其内含子位置与LBR基因编码其羧基末端结构域的部分完全保守。 DHCR7 基因中的内含子位置也相似。这两个新的 LBR 样基因均位于染色体 11q13 上。这些结果描述了编码在核组织和/或甾醇代谢中起作用的内核膜和内质网蛋白质的人类基因家族。 (C) 1998 年学术出版社。
LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, aminoterminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined the primary structures of two human proteins with strong sequence similarity to the carboxyl-terminal domain of LBR and sterol reductases. Their genes have recently been assigned the symbols TM7SF2 and DHCR7. TM7SF2 mRNA is most predominantly expressed in heart and DHCR7 mRNA mostly in liver and brain. Whereas LBR is localized to the inner nuclear membrane, these two related proteins are in the endoplasmic reticulum. The TM7SF2 gene contains 10 coding exons, and its intron positions are exactly conserved in the part of the LBR gene encoding its carboxyl-terminal domain. Intron positions in the DHCR7 gene are also similar. Both of these new LBR-like genes are on chromosome 11q13. These results describe a human gene family encoding proteins of the inner nuclear membrane and endoplasmic reticulum that function in nuclear organization and/or sterol metabolism. (C) 1998 Academic Press.