LAMA1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | LAMA1 |
| Official Name | laminin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6481] |
| Ensembl ID | ENSG00000101680 |
| Bio databases IDs | |
| Aliases | laminin subunit alpha 1 |
| Synonyms | AA408497, LAMA, Laminin a, Laminin alpha1, laminin, alpha 1, laminin subunit alpha 1, laminin subunit α 1, Laminin α 1, laminin, α 1, PTBHS, S-LAM-alpha, S-LAM-α |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LAMA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LEa domain
- Laminin B (Domain IV)
- globular domain
- helix-rich Mycoplasma protein
- coiled-coil domain
- Laminin Domain II
- Bin/Amphiphysin/Rvs domain
- EGF_CA
- Laminin Domain I
- Concanavalin A-like lectin/glucanases superfamily
- Laminin-type epidermal growth factor-like domai
- laminin G domain
- SPEC
- Laminin N-terminal (Domain VI)
- sphingolipid binding
- Giardia variant-specific surface protein
- Weak chloroplast movement under blue light
- lipid binding
- alpha1 beta1 integrin binding domain
- LamG
- LN domain
- extracellular matrix structural constituent
- protein binding
- Tumor necrosis factor receptor superfamily (TNFRSF)
- laminin-G repeat
- Mechanosensitive ion channel porin domain
- binding protein
- alpha2 beta1 integrin binding domain
- BAR domain
- Apolipoprotein A1/A4/E domain
- Laminin EGF domain
Pathways
Biological processes and signaling networks where the LAMA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- breast cancer
- neoplasia
- esophageal squamous cell carcinoma
- non-insulin-dependent diabetes mellitus
- hereditary disorder
- disorder of pregnancy
- Poretti-Boltshauser syndrome
- Alzheimer disease
- developmental delay and generalized hypotonia and cerebellar ataxia
role in cell
- apoptosis
- proliferation
- migration
- formation
- development
- fusion
- permeability
- morphogenesis
- invasion by
- cell polarity formation by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular vesicles
- cellular membrane
- intercellular junctions
- extracellular matrix
- basal lamina
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LAMA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial tube branching involved in lung morphogenesis
- neuron projection development
- regulation of embryonic development
- cell surface receptor signaling pathway
- cell adhesion
- positive regulation of cell adhesion
- morphogenesis of an epithelial sheet
- branching involved in salivary gland morphogenesis
- retinal blood vessel morphogenesis
- establishment of epithelial cell apical/basal polarity
- regulation of cell migration
- positive regulation of integrin-mediated signaling pathway
- positive regulation of muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- basement membrane
- cell-cell junction
- laminin-1 complex
- laminin-3 complex
- membrane
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- glycosphingolipid binding
- protein binding
- receptor binding
- extracellular matrix structural constituent