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    LAMA3 laminin, alpha 3 [ Homo sapiens ]

    Gene ID: 3909, updated on 19-May-2012

    Summary

    Official Symbol
    LAMA3provided by HGNC
    Official Full Name
    laminin, alpha 3provided by HGNC
    Primary source
    HGNC:6483
    See related
    Ensembl:ENSG00000053747; HPRD:02883; MIM:600805; Vega:OTTHUMG00000131874
    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
    E170; LOCS; BM600; LAMNA; lama3a
    Summary
    Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    18q11.2
    Sequence :
    Chromosome: 18; NC_000018.9 (21269562..21535030)
    See LAMA3 in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 29 Neighboring gene ribosomal protein S10 pseudogene 27 Neighboring gene ribosomal protein L23a pseudogene 77 Neighboring gene tetratricopeptide repeat domain 39C Neighboring gene calcium binding tyrosine-(Y)-phosphorylation regulated

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 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 HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q16787 P13497 BMP1    HPRD  PubMed  
    Q16787 Q13751 LAMB3    HPRD  PubMed  
    Q16787 P00750 PLAT    HPRD  PubMed  
    Q16787 P00747 PLG    HPRD  PubMed  
    Q16787 P34741 SDC2    HPRD  PubMed  
    Q16787 Q96K37 SLC35E1    HPRD  PubMed  
    BioGRID:110103 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:110103 BioGRID:248286 P2rx7    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110103 BioGRID:112285 SDC2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110103 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-2-mediated signaling events, organism-specific biosystem
      Syndecan-2-mediated signaling events
    • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-4-mediated signaling events, organism-specific biosystem
      Syndecan-4-mediated signaling events
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
      Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell junction assembly TAS
    Traceable Author Statement
    more info
     
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    laminin-1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    laminin-5 complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    laminin subunit alpha-3
    Names
    laminin subunit alpha-3
    BM600 150kD subunit
    nicein 150kD subunit
    nicein subunit alpha
    kalinin 165kD subunit
    kalinin subunit alpha
    epiligrin subunit alpha
    laminin-5 alpha 3 chain
    laminin-5 subunit alpha
    laminin-6 subunit alpha
    laminin-7 subunit alpha
    epiligrin 170 kda subunit
    epiligrin alpha 3 subunit
    laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)

    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_007853.1 RefSeqGene

      Range
      5001..270469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000227.3NP_000218.2  laminin subunit alpha-3 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' end exon and is missing almost half of the coding exons from the 5' end compared to transcript variant 1. This results in a shorter isoform (2) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA001432, AC010754, AY327115, DA862923, L34155
      Consensus CDS
      CCDS11880.1
      UniProtKB/TrEMBL
      B0YJ33
      UniProtKB/Swiss-Prot
      Q16787
      Related
      ENSP00000269217, OTTHUMP00000162726, ENST00000269217, OTTHUMT00000254850
      Conserved Domains (6) summary
      cd00055
      Location:77123
      Blast Score: 157
      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:15491700
      Blast Score: 291
      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 ...
      TIGR02168
      Location:450767
      Blast Score: 132
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:236496
      Blast Score: 713
      Laminin_I; Laminin Domain I
      pfam00053
      Location:125175
      Blast Score: 161
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:679807
      Blast Score: 344
      Laminin_II; Laminin Domain II
    2. NM_001127717.1NP_001121189.1  laminin subunit alpha-3 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is lacking an internal in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (3) missing a 56 aa segment compared to isoform 1.
      Source sequence(s)
      AA001432, AC010754, AK096422, AY327116
      Consensus CDS
      CCDS45838.1
      Related
      ENSP00000382432, ENST00000399516
      Conserved Domains (9) summary
      cd00055
      Location:12651307
      Blast Score: 155
      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:31023253
      Blast Score: 300
      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 ...
      TIGR02168
      Location:20032320
      Blast Score: 152
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:18452049
      Blast Score: 518
      Laminin_I; Laminin Domain I
      smart00180
      Location:536579
      Blast Score: 150
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cl02548
      Location:15141641
      Blast Score: 368
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:12661314
      Blast Score: 168
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:22322360
      Blast Score: 376
      Laminin_II; Laminin Domain II
      cl02806
      Location:46297
      Blast Score: 795
      Laminin_N; Laminin N-terminal (Domain VI)
    3. NM_001127718.1NP_001121190.1  laminin subunit alpha-3 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' end exon and is missing almost half of the coding exons from the 5' end, and another in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (4) with a distinct N-terminus and missing an internal 56 aa segment compared to isoform 1.
      Source sequence(s)
      AA001432, AC010754, AY327114, DA862923
      UniProtKB/TrEMBL
      Q6VU69
      Conserved Domains (6) summary
      cd00055
      Location:77123
      Blast Score: 156
      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:14931644
      Blast Score: 291
      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 ...
      TIGR02168
      Location:394711
      Blast Score: 134
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:236440
      Blast Score: 466
      Laminin_I; Laminin Domain I
      pfam00053
      Location:125175
      Blast Score: 161
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:623751
      Blast Score: 346
      Laminin_II; Laminin Domain II
    4. NM_198129.1NP_937762.1  laminin subunit alpha-3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA001432, AY327115, CA427431, CB990144
      Consensus CDS
      CCDS42419.1
      UniProtKB/Swiss-Prot
      Q16787
      Related
      ENSP00000324532, OTTHUMP00000162700, ENST00000313654, OTTHUMT00000254824
      Conserved Domains (9) summary
      cd00055
      Location:12651307
      Blast Score: 156
      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:31583309
      Blast Score: 300
      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 ...
      TIGR02168
      Location:20592376
      Blast Score: 151
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:18452105
      Blast Score: 782
      Laminin_I; Laminin Domain I
      smart00180
      Location:536579
      Blast Score: 150
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cl02548
      Location:15141641
      Blast Score: 367
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:12661314
      Blast Score: 168
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:22882416
      Blast Score: 374
      Laminin_II; Laminin Domain II
      cl02806
      Location:46297
      Blast Score: 796
      Laminin_N; Laminin N-terminal (Domain VI)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      21269562..21535030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      18125049..18390663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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