LAMB1 laminin subunit beta 1
Gene ID: 3912, updated on 7-Apr-2024Gene type: protein coding
Also known as: CLM; LIS5
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- Go to complete Gene record for LAMB1
- Go to Variation Viewer for LAMB1 variants
Summary
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese. GeneReviews: Not available | |
Cobblestone lissencephaly without muscular or ocular involvement | See labs |
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. GeneReviews: Not available | |
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. GeneReviews: Not available | |
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 7q31.1
- Sequence:
- Chromosome: 7; NC_000007.14 (107923799..108003161, complement)
- Total number of exons:
- 35
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LAMB1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LAMB1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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