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

    Gene ID: 3915, updated on 5-Sep-2021

    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
    NEW
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    Genomic context

    See LAMC1 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183023420..183145592)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182992555..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
    enables extracellular matrix constituent conferring elasticity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables extracellular matrix structural constituent IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables extracellular matrix structural constituent ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    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)

    NEW Try the new Transcript table

    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 109.20210514

    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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