LAMC1 - laminin subunit gamma 1 Gene

中文名称：层粘连蛋白亚基γ1

种属: Homo sapiens

同用名: LAMB2

关于 LAMC1

功能概要

层粘连蛋白是细胞外基质糖蛋白家族，是基底膜的主要非胶原成分。它们涉及多种生物过程，包括细胞粘附、分化、迁移、信号传导、神经突生长和转移。层粘连蛋白，由 3 条不相同的链组成：层粘连蛋白 alpha、beta 和 gamma (以前分别为 A、B1 和 B2) ，具有十字形结构，由 3 个短臂组成，每个短臂由不同的链组成，长臂由所有 3 条链。每条层粘连蛋白链都是由不同基因编码的多结构域蛋白质。已经描述了每条链的几种亚型。不同的 alpha、beta 和 gamma 链异构体结合产生不同的异源三聚体层粘连蛋白亚型，这些异构体按发现顺序用阿拉伯数字表示，即 alpha1beta1gamma1 异源三聚体是层粘连蛋白 1。不同链和三聚体分子的生物学功能在很大程度上是未知的, 但一些链已被证明在组织分布方面有所不同, 可能反映了体内的不同功能。该基因编码伽玛链同种型层粘连蛋白，伽玛 1。伽玛 1 链，以前被认为是 β 链，包含类似于 β 链的结构域，但是，缺少分隔域 I 和 II 的短 alpha 区域。该基因的结构组织也表明它与 β 链基因有很大差异。 γ1 链基因的两个等位基因均通过同源重组失活的转基因小鼠胚胎缺乏基底膜，表明层粘连蛋白、γ1 链是层粘连蛋白异源三聚体组装所必需的。已经通过与小鼠层粘连蛋白 gamma 1 cDNA 中惊人相似的 3' UTR 序列的类比推断，人类利用多个聚腺苷酸化位点来生成在 Northern 分析中看到的 2 种不同大小的 mRNA (5.5 和 7.5 kb) 。[RefSeq 提供，2011 年 8 月]

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]