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LAMC1 laminin subunit gamma 1 [ Homo sapiens (human) ]

Gene ID: 3915, updated on 22-Aug-2020

Summary

Official Symbol
LAMC1provided by HGNC
Official Full Name
laminin subunit gamma 1provided by HGNC
Primary source
HGNC:HGNC:6492
See related
Ensembl:ENSG00000135862 MIM:150290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAMB2
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, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have 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 gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
Expression
Broad expression in placenta (RPKM 116.1), fat (RPKM 63.0) and 19 other tissues See more
Orthologs

Genomic context

See LAMC1 in Genome Data Viewer
Location:
1q25.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183023420..183145592)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182992572..183114727)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8189 Neighboring gene RNA, U6 small nuclear 41, pseudogene Neighboring gene LAMC1 antisense RNA 1 Neighboring gene laminin subunit gamma 2 Neighboring gene nicotinamide nucleotide adenylyltransferase 2 Neighboring gene RPS3A pseudogene 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87297

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix constituent conferring elasticity RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix structural constituent ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
endoderm development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemidesmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
maintenance of permeability of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of epithelial cell proliferation TAS
Traceable Author Statement
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
substrate adhesion-dependent cell spreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 
laminin-1 complex NAS
Non-traceable Author Statement
more info
PubMed 
laminin-1 complex TAS
Traceable Author Statement
more info
PubMed 
laminin-10 complex TAS
Traceable Author Statement
more info
PubMed 
laminin-11 complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
laminin subunit gamma-1
Names
S-LAM gamma
S-laminin subunit gamma
laminin B2 chain
laminin, gamma 1 (formerly LAMB2)
laminin-10 subunit gamma
laminin-11 subunit gamma
laminin-2 subunit gamma
laminin-3 subunit gamma
laminin-4 subunit gamma
laminin-6 subunit gamma
laminin-7 subunit gamma
laminin-8 subunit gamma
laminin-9 subunit gamma

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011463.1 RefSeqGene

    Range
    4961..127133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002293.4NP_002284.3  laminin subunit gamma-1 precursor

    See identical proteins and their annotated locations for NP_002284.3

    Status: REVIEWED

    Source sequence(s)
    AL354953, AL450304, BC067813, BF507385, BI768612, CF125114, CN388644, DA401791, J03202
    Consensus CDS
    CCDS1351.1
    UniProtKB/Swiss-Prot
    P11047
    UniProtKB/TrEMBL
    Q6NVY8
    Related
    ENSP00000258341.3, ENST00000258341.5
    Conserved Domains (11) summary
    cl14654
    Location:11801336
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    smart00397
    Location:10721155
    t_SNARE; Helical region found in SNAREs
    smart00136
    Location:44284
    LamNT; Laminin N-terminal domain (domain VI)
    smart00180
    Location:935980
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00281
    Location:553678
    LamB; Laminin B domain
    smart00283
    Location:10911302
    MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
    cd00055
    Location:724771
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:445492
    Laminin_EGF; Laminin EGF domain
    pfam05276
    Location:13611592
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
    pfam06008
    Location:12871530
    Laminin_I; Laminin Domain I
    cl23763
    Location:11231255
    MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    183023420..183145592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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