1. Gene
  2. LAMC3 - laminin subunit gamma 3 Gene

LAMC3 - laminin subunit gamma 3 Gene

中文名称:层粘连蛋白亚基γ3

种属: Homo sapiens

同用名: OCCM

基因 ID: 10319 | 基因类型: protein coding

关于 LAMC3

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:131,009,174-131,094,473 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 27 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 45.0), testis (RPKM 15.3) and 7 other tissues.

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) ,它们形成十字形结构,由 3 个短臂组成,每个短臂由不同的链组成,长臂由不同的链组成所有 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。该基因编码伽马链亚型层粘连蛋白,伽马 3。伽马 3 链与伽马 1 链最相似,包含伽马链预期的所有 6 个结构域。它是层粘连蛋白 12 的组成部分。γ 3 链在皮肤、心脏、肺和生殖道中广泛表达。在皮肤中,可以在神经穿透点的真皮-表皮交界处的基底膜内看到它。 γ 3 也是肺、输卵管、附睾、输精管和生精小管的纤毛上皮细胞顶端表面的重要元素。含γ 3 的层粘连蛋白沿纤毛上皮表面的分布表明顶端层粘连蛋白在这些细胞的纤毛过程的形态发生和结构稳定性中很重要。[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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]

LAMC3 基因产物(1)

mRNA Protein Name
NM_006059.4 NP_006050.3 laminin subunit gamma-3 precursor

LAMC3 蛋白结构

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (35 - 269)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (271 - 314)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (327 - 377)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (383 - 427)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (430 - 477)

Laminin_B

Laminin_B: Laminin B (Domain IV) (541 - 671)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (673 - 694)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (707 - 752)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (755 - 807)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (810 - 858)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (866 - 914)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (917 - 957)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (965 - 1013)

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  • 1575 a.a.
蛋白主名 其他名称

laminin subunit gamma-3

laminin, gamma 3

关联疾病

疾病名称 别名
Cortical Malformations, Occipital

Occipital Pachygyria And Polymicrogyria

OCCM

Occipital Mcd

Occipital Malformations Of Cortical Development

Cortical Malformations Occipital

Polymicrogyria

Pmg

Tooth Resorption
Alzheimer Disease 12

Ad12

Alzheimer'S Disease 12

Alzheimer Disease, Familial, 12

Alzheimer Disease Familial 12

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus LAMC3 MGD MGI:1344394
Macaca mulatta LAMC3 VGNC VGNC:103276
Felis catus LAMC3 VGNC VGNC:68013
Canis familiaris LAMC3 VGNC VGNC:42573
Bos taurus LAMC3 VGNC VGNC:58386
Rattus norvegicus LAMC3 RGD RGD:1309399