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

    Gene ID: 3914, updated on 28-Oct-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
    mouse all
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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 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. Junctional epidermolysis bullosa with LAMB3 splice-site mutations. Kiritsi D, et al. Acta Derm Venereol, 2015 Sep. PMID 25708563
    2. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. Pasmooij AM, et al. J Clin Invest, 2007 May. PMID 17476356, Free PMC Article
    3. Human laminin-332 degradation by Candida proteinases. Pärnänen P, et al. J Oral Pathol Med, 2008 Jul. PMID 18284540
    4. 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
    5. Histopathology of anti-laminin 5 mucous membrane pemphigoid. Rose C, et al. J Am Acad Dermatol, 2009 Sep. PMID 19700013

    See all (148) 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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    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)

    Genotypes

    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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