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

LAMA1 - laminin subunit alpha 1 Gene

Homo sapiens

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

Gene ID: 284217 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16677310 GOA
Cellular Component GO Annotation Evidence Reference 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_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
  • 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

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