1. Gene
  2. LAMA1 - laminin subunit alpha 1 Gene

LAMA1 - laminin subunit alpha 1 Gene

中文名称:层粘连蛋白亚基 alpha 1

种属: Homo sapiens

同用名: LAMA; PTBHS; S-LAM-alpha

基因 ID: 284217 | 基因类型: protein coding

关于 LAMA1

Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:6,941,742-7,117,797 (from NCBI)

This gene has 8 transcripts (splice variants), 226 orthologues, 27 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 6.1), thyroid (RPKM 2.2) and 8 other tissues.

功能概要

该基因编码层粘连蛋白的 alpha 1 亚基之一。层粘连蛋白是细胞外基质糖蛋白家族,具有由α、β和γ链组成的异源三聚体结构。这些蛋白质构成基底膜的主要成分,并涉及多种生物过程,包括细胞粘附、分化、迁移、信号传导、神经突生长和转移。该基因的突变可能与 Poretti-Boltshauser 综合征有关。[RefSeq 提供,2014 年 9 月]

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]

LAMA1 基因产物(1)

mRNA Protein Name
NM_005559.4 NP_005550.2 laminin subunit alpha-1 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
16677310 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
2099832 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
10964500 GOA
part of laminin-1 complex IDA
IDA: 通过直接分析推断
8601594 GOA
part of laminin-1 complex IPI
IPI: 通过物理相互作用推断
10964500 GOA
part of laminin-3 complex IPI
IPI: 通过物理相互作用推断
10964500 GOA
located in membrane IDA
IDA: 通过直接分析推断
16677310 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

LAMA1 蛋白结构

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (22 - 268)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (270 - 319)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (327 - 385)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (397 - 449)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (454 - 500)

Laminin_B

Laminin_B: Laminin B (Domain IV) (568 - 707)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (708 - 729)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (742 - 788)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (791 - 846)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (849 - 899)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (902 - 948)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (951 - 992)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (998 - 1041)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1044 - 1085)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1090 - 1147)

Laminin_B

Laminin_B: Laminin B (Domain IV) (1218 - 1360)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1361 - 1383)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1403 - 1449)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1452 - 1506)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1509 - 1551)

Laminin_I

Laminin_I: Laminin Domain I (1568 - 1831)

Laminin_II

Laminin_II: Laminin Domain II (2011 - 2144)

Laminin_G_1

Laminin_G_1: Laminin G domain (2146 - 2282)

Laminin_G_1

Laminin_G_1: Laminin G domain (2333 - 2466)

Laminin_G_1

Laminin_G_1: Laminin G domain (2514 - 2657)

Laminin_G_1

Laminin_G_1: Laminin G domain (2743 - 2872)

Laminin_G_1

Laminin_G_1: Laminin G domain (2920 - 3049)

  • 0
  • 500
  • 1000
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  • 2000
  • 2500
  • 3075 a.a.
蛋白主名 其他名称

laminin subunit alpha-1

S-LAM alpha

关联疾病

疾病名称 别名
Poretti-Boltshauser Syndrome

PTBHS

Ataxia - Intellectual Disability - Oculomotor Apraxia - Cerebellar Cysts Syndrome

Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Apraxia

Apraxias

Dyspraxia

African Histoplasmosis
American Histoplasmosis

Infection By Histoplasma Capsulatum

Chromosome 18p Deletion Syndrome

18p- Syndrome

De Grouchy Syndrome

Monosomy 18p

18p-

Chromosome 18p Deletion

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A

Lama2-Related Muscular Dystrophy

Atrophie Blanche

Muscular Dystrophy, Congenital Merosin-Deficient

Congenital Merosin-Deficient Muscular Dystrophy 1a

Merosin-Negative Congenital Muscular Dystrophy

Muscular Dystrophy White Matter Spongiosis

Merosin Deficient Congenital Muscular Dystrophy

Muscular Dystrophy Congenital, Merosin Negative

Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

Cmd1a

Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

Congenital Muscular Dystrophy Type 1a

Laminin Alpha-2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital, Merosin-Deficient

Lama2 Md

Laminin Alpha 2 Deficiency

Laminin Alpha-2 Deficient Muscular Dystrophy

Merosin-Deficient Muscular Dystrophy

Muscular Dystrophy Due To Lama2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy 1a

Cardiomyopathy, Familial Idiopathic

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina

Degeneration Of Retina Nos

Reticular Retinal Degeneration

Retinal Degeneration

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

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Rattus norvegicus LAMA1 RGD RGD:1307207
Canis familiaris LAMA1 VGNC VGNC:42564
Mus musculus LAMA1 MGD MGI:99892
Bos taurus LAMA1 VGNC VGNC:30769
Felis catus LAMA1 VGNC VGNC:68003