LAMB1: Laminin Subunit Beta 1
A critical extracellular matrix glycoprotein involved in basement membrane assembly, cell adhesion, and tissue development.
Gene Information Card
| Symbol | LAMB1 |
|---|---|
| Full Name | Laminin Subunit Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.1 |
| NCBI Gene ID | 3912 ncbi.nlm.nih.gov/gene/3912 |
| Ensembl ID | ENSG00000091136 |
| UniProt ID | P07942 |
| OMIM ID | 150240 |
| HGNC ID | 6486 |
| Aliases | CLM, LAMB1-1, LIS5 |
Description
LAMB1 encodes the beta 1 subunit of laminin, a heterotrimeric extracellular matrix glycoprotein that is a major component of basement membranes. Laminin beta 1 interacts with alpha and gamma subunits to form functional laminin isoforms (e.g., laminin-111, laminin-211). It mediates cell adhesion, migration, differentiation, and tissue organization through binding to integrins and other receptors. Mutations in LAMB1 are associated with developmental disorders and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly 5 (LIS5) | Loss-of-function mutations disrupt basement membrane integrity in the developing brain, impairing neuronal migration. | OMIM #615191; PMID: 24360808 |
| Porencephaly | Homozygous LAMB1 mutations cause defective cerebral basement membranes leading to cystic brain lesions. | ClinVar; PMID: 24360808 |
| Cancer (multiple types) | Altered LAMB1 expression promotes tumor invasion and metastasis via ECM remodeling and integrin signaling. | COSMIC; PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Placenta | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.7 | High expression |
| HepG2 (hepatocellular carcinoma) | 9.4 | Medium expression |
| SH-SY5Y (neuroblastoma) | 14.1 | Medium expression |
| MCF7 (breast carcinoma) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1369C>T (p.Arg457*) | Nonsense | Rare (0.0004) | Loss of function; associated with LIS5 |
| c.1750G>A (p.Gly584Arg) | Missense | Rare (0.0001) | Dominant negative effect on laminin assembly |
| c.2023_2024del (p.Val675fs) | Frameshift | Rare (0.0002) | Loss of function; porencephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg457*, p.Val675fs) lead to truncated or absent protein, disrupting basement membrane formation and causing lissencephaly or porencephaly.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in LAMB1.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly584Arg) may interfere with heterotrimer assembly, exerting a dominant negative effect on extracellular matrix structure.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
• Laminin interactions (Reactome R-HSA-3000157)
• Integrin cell surface interactions (Reactome R-HSA-216083)
Protein Summary
Laminin subunit beta 1 (UniProt P07942) is a 1765-amino acid protein containing N-terminal laminin N-terminal (LN) domain, laminin EGF-like domains, and a C-terminal coiled-coil region. It forms disulfide-linked heterotrimers with laminin alpha and gamma chains. The protein is secreted and incorporated into basement membranes, where it provides structural support and regulates cell behavior via integrin binding. Post-translational modifications include N-glycosylation and proteolytic processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMB1 Knockout HEK293 Cell Line | EDJ-KQ258 | Human | 3912 | Details Get a Quote |
| LAMB1 Knockout A-549 Cell Line | EDJ-KQ19591 | Human | 3912 | Details Get a Quote |
| LAMB1 Knockout HCT 116 Cell Line | EDJ-KQ19593 | Human | 3912 | Details Get a Quote |
| LAMB1 Knockout HeLa Cell Line | EDJ-KQ19594 | Human | 3912 | Details Get a Quote |
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