LAMA4 - laminin subunit alpha 4 Gene

中文名称：层粘连蛋白亚基 alpha 4

种属: Homo sapiens

同用名: LAMA3; CMD1JJ; LAMA4*-1

基因 ID: 3910 | 基因类型: protein coding

关于 LAMA4

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:112,107,931-112,254,985 (from NCBI)

This gene has 24 transcripts (splice variants), 129 orthologues, 27 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 48.0), endometrium (RPKM 32.2) and 20 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 alpha 链同种型层粘连蛋白 alpha 4。alpha 4 的结构域结构与 alpha 3 相似，两者都类似于 alpha 1 和 alpha 2 的截短版本，因为 N 末端大约有 1,200 个残基 (域 IV、V 和 VI) 已丢失。层粘连蛋白 alpha 4 包含 C 端 G 结构域，它将所有 alpha 链与 beta 和 gamma 链区分开来。来自成人和胎儿组织的 RNA 分析揭示了表达的发育调节，然而，层粘连蛋白 alpha 4 的确切功能尚不清楚。替代 polyA 信号的组织特异性利用已在文献中进行了描述。可变剪接导致编码不同异构体的多个转录变体。[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 alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

LAMA4 基因产物(5)

mRNA	Protein	Name
NM_001105206.3	NP_001098676.2	laminin subunit alpha-4 isoform 1 precursor
NM_001105207.3	NP_001098677.2	laminin subunit alpha-4 isoform 2 precursor
NM_001105208.3	NP_001098678.1	laminin subunit alpha-4 isoform 3 precursor
NM_001105209.3	NP_001098679.1	laminin subunit alpha-4 isoform 3 precursor
NM_002290.5	NP_002281.3	laminin subunit alpha-4 isoform 2 precursor

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basement membrane	IDA IDA: 通过直接分析推断	14557481	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LAMA4 蛋白结构

Laminin_EGF

Laminin_I

Laminin_II

Laminin_G_2

0
300
600
900
1200
1500
1823 a.a.

蛋白主名

其他名称

laminin subunit alpha-4

laminin alpha 4 chain

关联疾病

疾病名称

别名

Cardiomyopathy, Dilated, 1jj

CMD1JJ	Dilated Cardiomyopathy 1jj
Cardiomyopathy, Dilated 1jj	Cardiomyopathy, Dilated, Type 1jj

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Letalis
JEB1B	Epidermolysis Bullosa Junctionalis, Herlitz Type
Jeb-Herlitz Type	Herlitz-Pearson-Type Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Herlitz Type	Jeb-H
Junctional Epidermolysis Bullosa Generalisata Gravis	Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe	Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Herlitz Type Epidermolysis Bullosa Junctionalis	Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Herlitz Type	Severe Generalized Jeb
Epidermolysis Letalis	Junctional Epidermolysis Bullosa Gravis
Junctional Epidermolysis Bullosa Herlitz-Pearson Type	Herlitz Disease

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

Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia	Carmi Syndrome
Epidermolysis Bullosa, Junctional, With Pyloric Atresia	Jeb-Pa
JEB5B	Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Aplasia Cutis Congenita With Gastrointestinal Atresia	Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
Eb-Pa-Acc	Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome
Jeb With Pyloric Atresia	Epidermolysis Bullosa Letalis, With Pyloric Atresia
Pa-Jeb	Epidermolysis Bullosa With Pyloric Atresia

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type	Gabeb
Generalized Atrophic Benign Epidermolysis Bullosa	Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Jeb-Nh Gen	Jen-Nh
Junctional Epidermolysis Bullosa Generalisata Mitis	Junctional Epidermolysis Bullosa, Disentis Type
Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Mitochondrial Dna Depletion Syndrome 12b

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects	Heimler Syndrome
HMLR1	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
Peroxisome Biogenesis Disorder 1c	Pbd1c
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
Peroxisomal Biogenesis Disorder 1c	Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome	Heimler, Syndrome
Heimler Syndrome, Type 1

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4	CMH4
Cardiomyopathy, Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic 4
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To	Cardiomyopathy, Hypertrophic, Familial, Type 4

Transient Bullous Dermolysis Of The Newborn

TBDN	Transient Bullous Of The Newborn
Epidermolysis Bullosa Dystrophica, Neonatal Form	Dystrophic Epidermolysis Bullosa, Neonatal
Deb, Bullous Dermolysis Of The Newborn	Deb-Bdn
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form	Self-Improving Dystrophic Epidermolysis Bullosa
Self-Improving Deb	Epidermolysis Bullosa Dystrophica Dominant Neonatal Type

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa	Deb
Dermolytic Epidermolysis Bullosa	Epidermolysis Bullosa, Dermolytic
Epidermolysis Bullosa, Dystrophic	Epidermolysis Bullosa Dystrophic
Dystrophic Eb - [Epidermolysis Bullosa]

Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5	CILD5
Ciliary Dyskinesia, Primary, 5, Without Situs Inversus	Primary Ciliary Dyskinesia 5 Without Situs Inversus
Ics5	Immotile Cilia Syndrome 5
Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus	Dyskinesia, Ciliary, Primary, Type 5

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis	Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
Rdeb, Hallopeau-Siemens Type	Severe Generalized Rdeb
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa	Rdeb Generalisata Gravis
Rdeb, Severe Generalized	Rdeb-Sev Gen
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized	Hallopeau-Siemens Disease

Amebiasis

Amoebiasis	Entamoebiasis
Chronic Intestinal Amebiasis	Amoebiasis, Unspecified
Amebic Colitis	Amoebic Enteritis
Infection Due To Entamoeba Histolytica	Amoebic Infection
Disease Due To Endamoebidae	Amoebiasis Nos

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07500	LAMA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21622	Lama4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28140	Lama4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LAMA4	VGNC	VGNC:68005
Mus musculus	LAMA4	MGD	MGI:109321
Bos taurus	LAMA4	VGNC	VGNC:52792
Canis familiaris	LAMA4	VGNC	VGNC:54967
Macaca mulatta	LAMA4	VGNC	VGNC:74227
Rattus norvegicus	LAMA4	RGD	RGD:1560062

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

LAMA4 - laminin subunit alpha 4 Gene

关于 LAMA4

功能概要

LAMA4 基因产物(5)

LAMA4 蛋白结构

关联疾病

直系同源

热门区域

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LAMA4 - laminin subunit alpha 4 Gene

关于 LAMA4

功能概要

LAMA4 基因产物(5)

LAMA4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

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