LAMA5: Laminin Subunit Alpha 5 - Key Extracellular Matrix Protein
Comprehensive genomic and proteomic analysis of LAMA5, a critical component of basement membranes implicated in development, kidney disease, and cancer.
Gene Information Card
| Symbol | LAMA5 |
|---|---|
| Full Name | laminin subunit alpha 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 3911 ncbi.nlm.nih.gov/gene/3911 |
| Ensembl ID | ENSG00000130702 |
| UniProt ID | O15230 |
| OMIM ID | 601033 |
| HGNC ID | 6485 |
| Aliases | KIAA1907, LAM-A5, laminin-10 subunit alpha, laminin-11 subunit alpha |
Description
LAMA5 encodes the alpha 5 subunit of laminin, a major component of basement membranes. Laminins are heterotrimeric glycoproteins composed of alpha, beta, and gamma chains. The alpha 5 chain is widely expressed in adult tissues and plays essential roles in cell adhesion, migration, differentiation, and tissue organization. Mutations in LAMA5 are associated with developmental disorders, kidney disease, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pierson syndrome (nephrotic syndrome with ocular anomalies) | Biallelic loss-of-function mutations in LAMA5 disrupt glomerular basement membrane integrity, leading to proteinuria and eye defects. | OMIM #609049; ClinVar |
| Focal segmental glomerulosclerosis (FSGS) | Missense and truncating variants in LAMA5 impair podocyte adhesion and basement membrane function. | ClinVar; PMID: 30586318 |
| Cancer (various types, including breast, colon, and lung) | Altered LAMA5 expression and mutations affect tumor cell invasion, metastasis, and angiogenesis through ECM remodeling. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 38.2 | High |
| Lung | 25.6 | Medium |
| Breast | 22.1 | Medium |
| Colon | 18.4 | Medium |
| Liver | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 45.0 | High expression; commonly used for recombinant studies |
| A549 (lung carcinoma) | 30.5 | Moderate expression; relevant for cancer studies |
| MCF7 (breast carcinoma) | 20.2 | Moderate expression; hormone-responsive |
| HepG2 (hepatocellular carcinoma) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Loss of function; truncation of alpha 5 chain |
| c.2746G>A (p.Gly916Arg) | Missense | Rare | Likely damaging; disrupts laminin assembly |
| c.4210_4211del (p.Leu1404Valfs*12) | Frameshift | Rare | Loss of function; associated with Pierson syndrome |
| c.5128G>A (p.Val1710Met) | Missense | 0.01% (gnomAD) | Uncertain significance; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to truncated or absent alpha 5 chain; associated with Pierson syndrome and FSGS.
Gain of Function (GOF)
Not well documented; some missense variants in cancer may alter ECM interactions but no clear gain-of-function mechanism established.
Dominant Negative (DN)
Heterozygous missense mutations in the laminin coiled-coil domain may interfere with trimer assembly, potentially acting in a dominant-negative manner.
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 alpha 5 (UniProt O15230) is a 3,695-amino acid protein that assembles with beta and gamma chains to form laminin-511 (alpha5beta1gamma1) and laminin-521 (alpha5beta2gamma1). The protein contains N-terminal laminin N-terminal (LN) domain, multiple laminin G-like (LG) domains, and a coiled-coil region. It is heavily glycosylated and secreted into the extracellular matrix, where it mediates cell attachment via integrins and dystroglycan. Alpha 5 is essential for kidney glomerular filtration barrier integrity, lung alveolar development, and vascular basement membrane stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMA5 Knockout HEK293 Cell Line | EDJ-KQ826 | Human | 3911 | Details Get a Quote |
| LAMA5 Knockout A-549 Cell Line | EDJ-KQ19588 | Human | 3911 | Details Get a Quote |
| LAMA5 Knockout HCT 116 Cell Line | EDJ-KQ19589 | Human | 3911 | Details Get a Quote |
| LAMA5 Knockout HeLa Cell Line | EDJ-KQ19590 | Human | 3911 | Details Get a Quote |
