LAMC1 (Laminin Subunit Gamma 1)
Key extracellular matrix glycoprotein involved in basement membrane assembly, cell adhesion, and signaling; implicated in developmental disorders and cancer progression.
Gene Information Card
| Symbol | LAMC1 |
|---|---|
| Full Name | Laminin Subunit Gamma 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.1 |
| NCBI Gene ID | 3915 ncbi.nlm.nih.gov/gene/3915 |
| Ensembl ID | ENSG00000135862 |
| UniProt ID | P11047 |
| OMIM ID | 150290 |
| HGNC ID | 6492 |
| Aliases | LAMB2, LAMC1, SJS2 |
Description
LAMC1 encodes the gamma-1 chain of laminin, a major component of the basement membrane. Laminins are heterotrimeric glycoproteins composed of alpha, beta, and gamma chains. The gamma-1 chain is widely expressed and essential for basement membrane assembly, cell adhesion, migration, and differentiation. Mutations in LAMC1 are associated with Poretti-Boltshauser syndrome (cerebellar dysplasia) and have been implicated in various cancers, including colorectal and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Poretti-Boltshauser syndrome | Loss-of-function mutations in LAMC1 disrupt laminin trimer formation, leading to cerebellar dysplasia and retinal dystrophy. | ClinVar, OMIM |
| Colorectal cancer | Altered LAMC1 expression and mutations contribute to tumor invasion and metastasis via ECM remodeling. | COSMIC, NCBI |
| Breast cancer | Overexpression of LAMC1 promotes cell migration and invasion through integrin-mediated signaling. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Kidney | 22.3 | High |
| Lung | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Heart | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.2 | Hepatocellular carcinoma cell line |
| A549 | 20.1 | Lung adenocarcinoma cell line |
| MCF7 | 15.6 | Breast cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Disrupts laminin assembly; associated with Poretti-Boltshauser syndrome |
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Premature stop; loss of function |
| c.789_790insA | Frameshift | Rare | Frameshift; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated gamma-1 chain, impairing laminin trimerization and basement membrane integrity.
Gain of Function (GOF)
Not well documented; some missense variants may alter integrin binding but evidence is limited.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg82Gln) may produce defective chains that interfere with wild-type laminin assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Laminin interactions (Reactome: R-HSA-3000157)
Protein Summary
Laminin subunit gamma-1 (UniProt P11047) is a 1609-amino-acid protein that forms the gamma chain of laminin heterotrimers. It contains an N-terminal domain, laminin EGF-like repeats, and a C-terminal coiled-coil domain essential for trimerization with alpha and beta chains. The protein is secreted and incorporated into basement membranes, where it mediates cell adhesion via integrin receptors (e.g., α6β1, α7β1) and dystroglycan. Post-translational modifications include N-glycosylation and proteolytic processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMC1 Knockout HEK293 Cell Line | EDJ-KQ830 | Human | 3915 | Details Get a Quote |
| LAMC1 Knockout HCT 116 Cell Line | EDJ-KQ18151 | Human | 3915 | Details Get a Quote |
| LAMC1 Knockout A-549 Cell Line | EDJ-KQ19601 | Human | 3915 | Details Get a Quote |
| LAMC1 Knockout HeLa Cell Line | EDJ-KQ19602 | Human | 3915 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
