1. Gene
  2. LAMB3 - laminin subunit beta 3 Gene

LAMB3 - laminin subunit beta 3 Gene

中文名称:层粘连蛋白亚基β3

种属: Homo sapiens

同用名: AI1A; LAM5; JEB1A; JEB1B; LAMNB1; BM600-125KDA

基因 ID: 3914 | 基因类型: protein coding

关于 LAMB3

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:209,614,870-209,652,425 (from NCBI)

This gene has 5 transcripts (splice variants), 130 orthologues, 27 paralogues and is associated with 7 phenotypes. Broad expression in stomach (RPKM 30.8), small intestine (RPKM 17.6) and 16 other tissues.

功能概要

该基因编码的产物是属于基底膜蛋白家族的层粘连蛋白。这种蛋白质是一种 β 亚基层粘连蛋白,它与一个 α 和一个 γ 亚基一起形成层粘连蛋白 5。该基因的突变会导致交界性 Herlitz 型大疱性表皮松解症和全身性萎缩性良性大疱性表皮松解症,这些疾病的特征是皮肤起泡。已针对该基因发现了编码相同蛋白质的多个可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

LAMB3 基因产物(3)

mRNA Protein Name
NM_000228.3 NP_000219.2 laminin subunit beta-3 precursor
NM_001017402.2 NP_001017402.1 laminin subunit beta-3 precursor
NM_001127641.1 NP_001121113.1 laminin subunit beta-3 precursor
基因本体论
  • 分子功能
  • 生物过程
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
19275936 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endodermal cell differentiation IEP
IEP: 通过表达模式推断
23154389 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

LAMB3 蛋白结构

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (26 - 226)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (250 - 305)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (316 - 367)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (379 - 428)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (431 - 478)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (481 - 526)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (534 - 574)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1172 a.a.
蛋白主名 其他名称

laminin subunit beta-3

epiligrin subunit bata

关联疾病

疾病名称 别名
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

Epidermolysis Bullosa, Junctional 1a, Intermediate

Jeb-I

JEB1A

Epidermolysis Bullosa Junctionalis, Disentis Type

Junctional Epidermolysis Bullosa Inversa

Generalized Atrophic Benign Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate

Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Progressive

Epidermolysis Bullosa Junctionalis, Severe Nonlethal

Localized Junctional Epidermolysis Bullosa

Jeb-Nh Loc

Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type

Localized Jeb

Intermediate Generalized Junctional Epidermolysis Bullosa

Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Intermediate Generalized Jeb

Junctional Epidermolysis Bullosa Generalisata Mitis

Junctional Epidermolysis Bullosa, Disentis Type

Jeb Inversa

Epidermolysis Bullosa Atrophicans Generalisata Mitis

Epidermolysis Bullosa Junctionalis Disentis Type

Epidermolysis Bullosa Junctionalis Progressive

Epidermolysis Bullosa Junctionalis Severe Non-Lethal

Gabeb

Generalized Junctional Epidermolysis Bullosa Mitis

Non-Herlitz Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Inversa Dystrophica

Amelogenesis Imperfecta, Type Ia

Amelogenesis Imperfecta Type 1a

AI1A

Amelogenesis Imperfecta, Hypoplastic Type Ia

Amelogenesis Imperfecta Type Ia

Amelogenesis Imperfecta Hypoplastic Type Ia

Amelogenesis Imperfecta 1a

Hypoplastic Amelogenesis Imperfecta

Amelogenesis Imperfecta Type 1

Amelogenesis Imperfecta, Hypoplastic Type

Amelogenesis Imperfecta Local Hypoplastic Form

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

Amelogenesis Imperfecta Local Hypoplastic

Local Hypoplastic Amelogenesis Imperfecta

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

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Epidermolysis Bullosa, Junctional 4, Intermediate

Gabeb

JEB4

Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type

Epidermolysis Bullosa, Generalized Atrophic Benign

Epidermolysis Bullosa, Junctional, Localisata Variant

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

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

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [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

Esophageal Basaloid Squamous Cell Carcinoma

Basaloid Squamous Carcinoma Of Esophagus

Esophageal Basaloid Carcinoma

Kindler Syndrome

Poikiloderma Of Kindler

Bullous Acrokeratotic Poikiloderma Of Kindler And Weary

Congenital Bullous Poikiloderma

KNDLRS

Poikiloderma, Hereditary Acrokeratotic

Poikiloderma, Congenital, With Bullae, Weary Type

Kindler'S Syndrome

Poikiloderma Congenital With Bullae Weary Type

Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary

Hereditary Acrokeratotic Poikiloderma

Weary Syndrome

Poikiloderma Hereditary Acrokeratotic

Potassium Deficiency

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

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

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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
Macaca mulatta LAMB3 VGNC VGNC:74230
Canis familiaris LAMB3 VGNC VGNC:42569
Mus musculus LAMB3 MGD MGI:99915
Felis catus LAMB3 VGNC VGNC:68009
Bos taurus LAMB3 VGNC VGNC:30773
Rattus norvegicus LAMB3 RGD RGD:1562668