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    LAMB3 laminin subunit beta 3 [ Homo sapiens (human) ]

    Gene ID: 3914, updated on 20-Apr-2017
    Official Symbol
    LAMB3provided by HGNC
    Official Full Name
    laminin subunit beta 3provided by HGNC
    Primary source
    HGNC:HGNC:6490
    See related
    Ensembl:ENSG00000196878 MIM:150310; Vega:OTTHUMG00000036360
    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
    AI1A; LAM5; LAMNB1; BM600-125KDA
    Summary
    The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1q32.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (209614870..209653077, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209788215..209825820, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372899 Neighboring gene uncharacterized LOC107985256 Neighboring gene calcium/calmodulin dependent protein kinase IG Neighboring gene microRNA 4260 Neighboring gene uncharacterized LOC101930114 Neighboring gene G0/G1 switch 2 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of laminin, beta 3 (LAMB3) in primary human brain microvascular endothelial cells PubMed
    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

    • Alpha 6 Beta 4 signaling pathway, organism-specific biosystem (from WikiPathways)
      Alpha 6 Beta 4 signaling pathway, organism-specific biosystemThe integrin alpha6beta4 was discovered in the late 1980s by two different groups and was called either alphaEbeta4 or Ic-Ic binding protein (Ic-IcBP) (1,2). The alpha6beta4 integrin is a component o...
    • 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...
    • Anchoring fibril formation, organism-specific biosystem (from REACTOME)
      Anchoring fibril formation, organism-specific biosystemCollagen VII forms anchoring fibrils, composed of antiparallel dimers that connect the dermis to the epidermis (Bruckner-Tuderman 2009, Has & Kern 2010). During fibrillogenesis, the nascent type VII ...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • 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...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • 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 ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • 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...
    • Laminin interactions, organism-specific biosystem (from REACTOME)
      Laminin interactions, organism-specific biosystemLaminins are a large family of conserved, multidomain trimeric basement membrane proteins. There are many theoretical trimer combinations but only 18 have been described (Domogatskaya et al. 2012, Mi...
    • MET activates PTK2 signaling, organism-specific biosystem (from REACTOME)
      MET activates PTK2 signaling, organism-specific biosystemMET receptor activates the focal adhesion kinase PTK2 (FAK1) in a process that depends on the simultaneous interaction of PTK2 with integrins and with MET. SRC is needed for PTK2 to become fully acti...
    • MET promotes cell motility, organism-specific biosystem (from REACTOME)
      MET promotes cell motility, organism-specific biosystemDirect and indirect interactions of MET with integrins, focal adhesion kinase PTK2 (FAK1), tensin-4 (TNS4) and GTPases RAP1 and RAC1, induce morphological changes that promote cell motility and play ...
    • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
      Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by MET, organism-specific biosystem (from REACTOME)
      Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
    • 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% ...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ99565

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    brown fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    laminin-5 complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    laminin subunit beta-3
    Names
    epiligrin subunit bata
    kalinin B1 chain
    kalinin subunit beta
    kalinin-140kDa
    laminin B1k chain
    laminin S B3 chain
    laminin beta 3
    laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
    laminin-5 subunit beta
    nicein subunit beta
    nicein-125kDa

    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_007116.1 RefSeqGene

      Range
      5001..42606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000228.2NP_000219.2  laminin subunit beta-3 precursor

      See identical proteins and their annotated locations for NP_000219.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as B3A) encodes the same protein as variants 2 and 3.
      Source sequence(s)
      AL555685, AY035783, BC058922, BC075838
      Consensus CDS
      CCDS1487.1
      UniProtKB/Swiss-Prot
      Q13751
      UniProtKB/TrEMBL
      A0A0S2Z3R6
      Related
      ENSP00000348384.3, OTTHUMP00000034555, ENST00000356082.8, OTTHUMT00000088525
      Conserved Domains (6) summary
      smart00136
      Location:20248
      LamNT; Laminin N-terminal domain (domain VI)
      smart00180
      Location:534576
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00283
      Location:8441071
      MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
      cd00055
      Location:249304
      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:379428
      Laminin_EGF; Laminin EGF domain
      cl23763
      Location:8621076
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain
    2. NM_001017402.1NP_001017402.1  laminin subunit beta-3 precursor

      See identical proteins and their annotated locations for NP_001017402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AY035783, BC058922, BC075838, BX345166, CN414822
      Consensus CDS
      CCDS1487.1
      UniProtKB/Swiss-Prot
      Q13751
      UniProtKB/TrEMBL
      A0A0S2Z3R6
      Related
      ENSP00000375778.1, ENST00000391911.5
      Conserved Domains (6) summary
      smart00136
      Location:20248
      LamNT; Laminin N-terminal domain (domain VI)
      smart00180
      Location:534576
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00283
      Location:8441071
      MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
      cd00055
      Location:249304
      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:379428
      Laminin_EGF; Laminin EGF domain
      cl23763
      Location:8621076
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain
    3. NM_001127641.1NP_001121113.1  laminin subunit beta-3 precursor

      See identical proteins and their annotated locations for NP_001121113.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as B3B) has an alternate 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL031316, AY035783, BC075838, BP350980
      Consensus CDS
      CCDS1487.1
      UniProtKB/Swiss-Prot
      Q13751
      UniProtKB/TrEMBL
      A0A0S2Z3R6
      Related
      ENSP00000355997.3, OTTHUMP00000034640, ENST00000367030.7, OTTHUMT00000088726
      Conserved Domains (6) summary
      smart00136
      Location:20248
      LamNT; Laminin N-terminal domain (domain VI)
      smart00180
      Location:534576
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00283
      Location:8441071
      MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
      cd00055
      Location:249304
      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:379428
      Laminin_EGF; Laminin EGF domain
      cl23763
      Location:8621076
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      209614870..209653077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001272.1XP_016856761.1  laminin subunit beta-3 isoform X2

    2. XM_005273124.4XP_005273181.1  laminin subunit beta-3 isoform X1

      See identical proteins and their annotated locations for XP_005273181.1

      UniProtKB/Swiss-Prot
      Q13751
      UniProtKB/TrEMBL
      A0A0S2Z3R6
      Conserved Domains (6) summary
      smart00136
      Location:20248
      LamNT; Laminin N-terminal domain (domain VI)
      smart00180
      Location:534576
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00283
      Location:8441071
      MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
      cd00055
      Location:249304
      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:379428
      Laminin_EGF; Laminin EGF domain
      cl23763
      Location:8621076
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      211060621..211098219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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