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    LAMA1 laminin subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 284217, updated on 17-Jun-2024

    Summary

    Official Symbol
    LAMA1provided by HGNC
    Official Full Name
    laminin subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:6481
    See related
    Ensembl:ENSG00000101680 MIM:150320; AllianceGenome:HGNC:6481
    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
    LAMA; PTBHS; S-LAM-alpha
    Summary
    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]
    Expression
    Biased expression in testis (RPKM 6.1), thyroid (RPKM 2.2) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LAMA1 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    63
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (6941742..7117797, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (7102299..7278323, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (6941741..7117796, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 668 Neighboring gene SCML2 pseudogene 1 Neighboring gene RNA, U6 small nuclear 916, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:6951323-6951880 Neighboring gene uncharacterized LOC101927188 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:6958646-6959845 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:7034687-7035886 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:7038146-7039345 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:7043747-7043948 Neighboring gene SLC25A51 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:7158211-7158711 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:7203119-7203796 Neighboring gene leucine rich repeat containing 30

    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
    Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
    MedGen: C4014821 OMIM: 615960 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.
    EBI GWAS Catalog
    Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
    EBI GWAS Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables glycosphingolipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of epithelial cell apical/basal polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of an epithelial sheet IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of muscle cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of basement membrane organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basement membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with collagen-containing extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of laminin-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of laminin-1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of laminin-3 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein complex involved in cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    laminin subunit alpha-1
    Names
    S-LAM alpha
    S-laminin subunit alpha
    laminin A chain
    laminin, alpha 1
    laminin-3 subunit alpha

    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_034251.1 RefSeqGene

      Range
      5018..181073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005559.4NP_005550.2  laminin subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_005550.2

      Status: REVIEWED

      Source sequence(s)
      AP002409, AP005062, AP005210
      Consensus CDS
      CCDS32787.1
      UniProtKB/Swiss-Prot
      P25391
      Related
      ENSP00000374309.3, ENST00000389658.4
      Conserved Domains (11) summary
      smart00136
      Location:16268
      LamNT; Laminin N-terminal domain (domain VI)
      smart00281
      Location:563695
      LamB; Laminin B domain
      smart00282
      Location:21412280
      LamG; Laminin G domain
      COG1196
      Location:17201986
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00055
      Location:848900
      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 ...
      cd00110
      Location:23072463
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam06008
      Location:15751830
      Laminin_I; Laminin Domain I
      pfam06009
      Location:20112145
      Laminin_II; Laminin Domain II
      pfam00052
      Location:12181344
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:902948
      Laminin_EGF; Laminin EGF domain
      pfam00054
      Location:27432872
      Laminin_G_1; Laminin G domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      6941742..7117797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      7102299..7278323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)