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

Gene ID: 3914, updated on 22-Sep-2018

Summary

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]
Expression
Broad expression in stomach (RPKM 30.8), small intestine (RPKM 17.6) and 16 other tissues See more
Orthologs

Genomic context

See LAMB3 in Genome Data Viewer
Location:
1q32.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (209614870..209652475, 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 HSD11B1 antisense RNA 1 Neighboring gene G0/G1 switch 2 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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-containing 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 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
 

General protein information

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

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_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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    209614870..209652475 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001272.2XP_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
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