LAMA1 - laminin subunit alpha 1 Gene

Also Known as LAMA; PTBHS; S-LAM-alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284217

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_005559.4	NP_005550.2	laminin subunit alpha-1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16677310	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	2099832	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	10964500	GOA
part of laminin-1 complex	IDA IDA: Inferred from direct assay	8601594	GOA
part of laminin-1 complex	IPI IPI: Inferred from physical interaction	10964500	GOA
part of laminin-3 complex	IPI IPI: Inferred from physical interaction	10964500	GOA
located in membrane	IDA IDA: Inferred from direct assay	16677310	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMA1 Protein Structure

Laminin_N

Laminin_EGF

Laminin_B

Laminin_EGF

Laminin_B

Laminin_EGF

Laminin_I

Laminin_II

Laminin_G_1

0
500
1000
1500
2000
2500
3075 a.a.

Protein Preferred Names	Protein Names
laminin subunit alpha-1	S-LAM alpha

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07497	LAMA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20976	Lama1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27493	Lama1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	LAMA1	NCBI