LAMA1: Laminin Subunit Alpha 1
Key extracellular matrix glycoprotein involved in basement membrane assembly, cell adhesion, and tissue development; mutations linked to Poretti-Boltshauser syndrome and various cancers.
Gene Information Card
| Symbol | LAMA1 |
|---|---|
| Full Name | Laminin Subunit Alpha 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 284217 ncbi.nlm.nih.gov/gene/284217 |
| Ensembl ID | ENSG00000101680 |
| UniProt ID | P25391 |
| OMIM ID | 150320 |
| HGNC ID | 6481 |
| Aliases | LAMA, S-LAM-alpha, LAM1 |
Description
LAMA1 encodes the alpha-1 chain of laminin, a heterotrimeric extracellular matrix glycoprotein. Laminins are major components of basement membranes and mediate cell adhesion, migration, differentiation, and tissue organization. LAMA1 is essential for embryonic development, particularly in the brain, kidney, and vascular system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Poretti-Boltshauser syndrome | Loss-of-function mutations in LAMA1 disrupt cerebellar basement membrane integrity, leading to cerebellar dysplasia, retinal dystrophy, and intellectual disability. | ClinVar, OMIM |
| LAMA1-related congenital muscular dystrophy | Defective laminin-111 assembly impairs muscle fiber basement membrane stability, causing progressive muscle weakness. | ClinVar, OMIM |
| Breast cancer | Altered LAMA1 expression influences tumor cell adhesion and invasion; downregulation associated with poor prognosis. | NCBI Gene, COSMIC |
| Colorectal cancer | LAMA1 promoter hypermethylation reduces expression, contributing to metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 18.3 | Medium |
| Lung | 8.9 | Low |
| Liver | 3.2 | Low |
| Placenta | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cells; moderate expression |
| MCF7 | 6.8 | Breast cancer cells; low expression |
| A549 | 9.2 | Lung carcinoma cells; low expression |
| HepG2 | 4.1 | Hepatocellular carcinoma; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379*) | Nonsense | Rare | Loss of function; truncation of laminin alpha-1 chain |
| c.2041G>A (p.Gly681Arg) | Missense | Rare | Disrupts laminin trimerization; associated with Poretti-Boltshauser syndrome |
| c.3772_3773del (p.Leu1258fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or abolish laminin alpha-1 expression or function; cause Poretti-Boltshauser syndrome and muscular dystrophy.
Gain of Function (GOF)
Not reported for LAMA1.
Dominant Negative (DN)
Not reported; LAMA1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Laminin interactions (Reactome: R-HSA-3000157)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
Laminin subunit alpha-1 (LAMA1) is a 400 kDa glycoprotein that assembles with beta-1 and gamma-1 chains to form laminin-111 (formerly laminin-1). It contains N-terminal globular domains, EGF-like repeats, and a C-terminal G domain that binds integrins and dystroglycan. LAMA1 is critical for basement membrane assembly, neural development, and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMA1 Knockout HEK293 Cell Line | EDJ-KQ1034 | Human | 284217 | Details Get a Quote |
| LAMA1 Knockout HeLa Cell Line | EDJ-KQ20138 | Human | 284217 | Details Get a Quote |
| LAMA1 Knockout A-549 Cell Line | EDJ-KQ67905 | Human | 284217 | Details Get a Quote |
| LAMA1 Knockout HCT 116 Cell Line | EDJ-KQ76285 | Human | 284217 | Details Get a Quote |
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