1. Gene
  2. LAMB1 - laminin subunit beta 1 Gene

LAMB1 - laminin subunit beta 1 Gene

中文名称:层粘连蛋白亚基β1

种属: Homo sapiens

同用名: CLM; LIS5

基因 ID: 3912 | 基因类型: protein coding

关于 LAMB1

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:107,923,799-108,003,161 (from NCBI)

This gene has 37 transcripts (splice variants), 296 orthologues, 27 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 75.7), fat (RPKM 65.2) and 23 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 β 链亚型层粘连蛋白,β 1。β 1 链具有 7 个结构不同的结构域,它与其他 β 链异构体共享。包含结构域 I 和 II 的 C 端螺旋区域由结构域 alpha 分隔,结构域 III 和 V 包含多个 EGF 样重复序列,结构域 IV 和 VI 具有球状构象。层粘连蛋白,β 1 在大多数产生基底膜的组织中都有表达,并且是构成层粘连蛋白 1 的 3 条链之一,层粘连蛋白 1 是从 Engelbreth-Holm-Swarm (EHS) 肿瘤中分离出来的第一个层粘连蛋白。确定了 β 1 链中涉及细胞附着、趋化性和与层粘连蛋白受体结合的序列,并显示其具有抑制转移的能力。[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 beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with Other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]

LAMB1 基因产物(1)

mRNA Protein Name
NM_002291.3 NP_002282.2 laminin subunit beta-1 precursor

LAMB1 蛋白结构

Laminin_N

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

Laminin_EGF

Laminin_EGF: Laminin EGF domain (271 - 324)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (335 - 391)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (398 - 455)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (458 - 507)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (510 - 548)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (773 - 818)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (821 - 863)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (867 - 914)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (917 - 973)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (976 - 1025)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1028 - 1081)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1084 - 1126)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1132 - 1172)

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  • 1786 a.a.
蛋白主名 其他名称

laminin subunit beta-1

laminin B1 chain

LAMB1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
LAMB1 P07942 GPR152 Homo sapiens Q8TDT2
Validated Y2H
32296183
种属内
LAMB1 P07942 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
种属内
LAMB1 P07942 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
种属内
LAMB1 P07942 UBQLN1 Homo sapiens Q9UMX0
Y2H Prey Pooling
32296183
种属内
LAMB1 P07942 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
种属内
LAMB1 P07942 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
32296183
种属内
LAMB1 P07942 CD79A Homo sapiens P11912
Validated Y2H
32296183
种属内
LAMB1 P07942 CD79A Homo sapiens P11912
Y2H Array
32296183
种属内
LAMB1 P07942 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
种属间
LAMB1 P07942 c5mbe7_cantt Candida tropicalis C5MBE7
Crosslink
26438063
种属间
LAMB1 P07942 c5mbe7_cantt Candida tropicalis C5MBE7
Affinity Chrom
26438063
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lissencephaly 5

LIS5

Cobblestone Lissencephaly Without Muscular Or Ocular Involvement

Cobblestone Lissencephaly Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Ocular Involvement

Lissencephaly, Type 5

Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Teratocarcinoma

Mixed Embryonal Carcinoma And Teratoma

Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities

NPHS5

Nephrotic Syndrome Type 5

Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities

Nephrotic Syndrome 5 With Or Without Ocular Abnormalities

Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Embryonal Carcinoma

Embryonal Neoplasm

Embryonal Cancer

Primary Extragonadal Embryonal Carcinoma

Embryo Neoplasm

Carcinoma Embryonal

Cancer Embryonal

Carcinoma, Embryonal

Extragonadal Embryonal Carcinoma

Cancer, Embryonal

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

Hepatocellular Clear Cell Carcinoma

Clear Cell Carcinoma Of The Liver Cells

Hepatocellular Carcinoma, Clear Cell Type

Clear Cell Hepatocellular Carcinoma

Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis

Mesangial Sclerosis, Diffuse

Dms

Diffuse Isolated Mesangial Sclerosis

Isolated Diffuse Mesangial Sclerosis

Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis

Leiomyomatosis
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome

Microcoria-Congenital Nephrosis Syndrome

PIERS

Microcoria - Congenital Nephrosis

Microcoria - Congenital Nephrotic Syndrome

PIERSS

Myopathy

Muscular Diseases

Myopathies

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Felis catus LAMB1 VGNC VGNC:68006
Bos taurus LAMB1 VGNC VGNC:30772
Rattus norvegicus LAMB1 RGD RGD:1306311
Macaca mulatta LAMB1 VGNC VGNC:74228
Canis familiaris LAMB1 VGNC VGNC:42567
Mus musculus LAMB1 MGD MGI:96743