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

Gene ID: 3914, updated on 1-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (209614870..209652467, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basement membrane assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
substrate adhesion-dependent cell spreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
laminin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    5051..42606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000228.3NP_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, ENST00000356082.9
    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, ENST00000367030.7
    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 Updated Annotation Release 109.

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
    209614870..209652467 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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