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

Gene ID: 3914, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:6490
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; JEB1A; JEB1B; 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
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Genomic context

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See LAMB3 in Genome Data Viewer
Location:
1q32.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209614870..209652425, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (208861637..208900810, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209788215..209825770, 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 ReSE screen-validated silencer GRCh37_chr1:209781202-209781360 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:209782479-209783678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209802693-209803194 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:209803195-209803696 Neighboring gene microRNA 4260 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:209830041-209831240 Neighboring gene HSD11B1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209848869-209849717 Neighboring gene G0/G1 switch 2 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. Mayer B, et al. Br J Dermatol, 2016 Oct. PMID 27062385
  2. Human laminin-332 degradation by Candida proteinases. Pärnänen P, et al. J Oral Pathol Med, 2008 Jul. PMID 18284540
  3. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. Castori M, et al. J Dermatol Sci, 2008 Jul. PMID 18387282
  4. Histopathology of anti-laminin 5 mucous membrane pemphigoid. Rose C, et al. J Am Acad Dermatol, 2009 Sep. PMID 19700013
  5. Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. Kittridge A, et al. Pediatr Dermatol, 2014 Jul-Aug. PMID 23278291

See all (151) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
    Title: MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
  2. PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/beta-catenin signalling pathway.
    Title: PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/β-catenin signalling pathway.
  3. Downregulation of LAMB3 Altered the Carcinogenic Properties of Human Papillomavirus 16-Positive Cervical Cancer Cells.
    Title: Downregulation of LAMB3 Altered the Carcinogenic Properties of Human Papillomavirus 16-Positive Cervical Cancer Cells.
  4. LAMB3 Promotes Myofibrogenesis and Cytoskeletal Reorganization in Endometrial Stromal Cells via the RhoA/ROCK1/MYL9 Pathway.
    Title: LAMB3 Promotes Myofibrogenesis and Cytoskeletal Reorganization in Endometrial Stromal Cells via the RhoA/ROCK1/MYL9 Pathway.
  5. LAMB3 Promotes Intestinal Inflammation Through SERPINA3 and Is Directly Transcriptionally Regulated by P65 in Inflammatory Bowel Disease.
    Title: LAMB3 Promotes Intestinal Inflammation Through SERPINA3 and Is Directly Transcriptionally Regulated by P65 in Inflammatory Bowel Disease.
  6. Perivascular mast cells and expression of vascular endothelial growth factor, laminin-332 and matrix metalloproteinase-9 in human colorectal neoplasms.
    Title: Perivascular mast cells and expression of vascular endothelial growth factor, laminin-332 and matrix metalloproteinase-9 in human colorectal neoplasms.
  7. Tumor-derived extracellular vesicles delivering TNF-alpha promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by targeting SNAP23.
    Title: Tumor-derived extracellular vesicles delivering TNF-α promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by targeting SNAP23.
  8. A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa.
    Title: A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa.
  9. Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
    Title: Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
  10. Endometrial laminin subunit beta-3 expression associates with reproductive outcome in patients with repeated implantation failure.
    Title: Endometrial laminin subunit beta-3 expression associates with reproductive outcome in patients with repeated implantation failure.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ99565

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables structural molecule activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in endodermal cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in epidermis development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
part_of laminin-5 complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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_000228.3 → NP_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
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6
    Related
    ENSP00000348384.3, ENST00000356082.9
    Conserved Domains (6) summary
    smart00136
    Location:20 → 248
    LamNT; Laminin N-terminal domain (domain VI)
    smart00180
    Location:534 → 576
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    COG1196
    Location:817 → 1135
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00055
    Location:249 → 304
    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:379 → 428
    Laminin_EGF; Laminin EGF domain
    cd22303
    Location:1102 → 1172
    cc_LAMB3_C; C-terminal coiled-coil domain found in laminin subunit beta-3 (LAMB3)

  2. NM_001017402.2 → NP_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)
    AL031316, AY035783, BC058922, BC075838, BX345166, CN414822
    Consensus CDS
    CCDS1487.1
    UniProtKB/Swiss-Prot
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6
    Related
    ENSP00000375778.1, ENST00000391911.5
    Conserved Domains (6) summary
    smart00136
    Location:20 → 248
    LamNT; Laminin N-terminal domain (domain VI)
    smart00180
    Location:534 → 576
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    COG1196
    Location:817 → 1135
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00055
    Location:249 → 304
    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:379 → 428
    Laminin_EGF; Laminin EGF domain
    cd22303
    Location:1102 → 1172
    cc_LAMB3_C; C-terminal coiled-coil domain found in laminin subunit beta-3 (LAMB3)

  3. NM_001127641.1 → NP_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
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6
    Related
    ENSP00000355997.3, ENST00000367030.7
    Conserved Domains (6) summary
    smart00136
    Location:20 → 248
    LamNT; Laminin N-terminal domain (domain VI)
    smart00180
    Location:534 → 576
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    COG1196
    Location:817 → 1135
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00055
    Location:249 → 304
    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:379 → 428
    Laminin_EGF; Laminin EGF domain
    cd22303
    Location:1102 → 1172
    cc_LAMB3_C; C-terminal coiled-coil domain found in laminin subunit beta-3 (LAMB3)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    209614870..209652425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_047420351.1 → XP_047276307.1  laminin subunit beta-3 isoform X2

  3. XM_005273124.5 → XP_005273181.1  laminin subunit beta-3 isoform X1

    See identical proteins and their annotated locations for XP_005273181.1

    UniProtKB/Swiss-Prot
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6
    Conserved Domains (6) summary
    smart00136
    Location:20 → 248
    LamNT; Laminin N-terminal domain (domain VI)
    smart00180
    Location:534 → 576
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    COG1196
    Location:817 → 1135
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00055
    Location:249 → 304
    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:379 → 428
    Laminin_EGF; Laminin EGF domain
    cd22303
    Location:1102 → 1172
    cc_LAMB3_C; C-terminal coiled-coil domain found in laminin subunit beta-3 (LAMB3)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    208861637..208900810 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336541.1 → XP_054192516.1  laminin subunit beta-3 isoform X1

    UniProtKB/Swiss-Prot
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6

  2. XM_054336543.1 → XP_054192518.1  laminin subunit beta-3 isoform X2

  3. XM_054336542.1 → XP_054192517.1  laminin subunit beta-3 isoform X1

    UniProtKB/Swiss-Prot
    D3DT88, O14947, Q13751, Q14733, Q9UJK4, Q9UJL1
    UniProtKB/TrEMBL
    A0A0S2Z3R6

  4. XM_054336544.1 → XP_054192519.1  laminin subunit beta-3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13751.1 GenPept UniProtKB/Swiss-Prot:Q13751

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