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Aliases for LAMB3 Gene

Aliases for LAMB3 Gene

  • Laminin, Beta 3 2 3
  • Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD)) 2 3
  • Epiligrin Subunit Bata 3 4
  • Laminin-5 Subunit Beta 3 4
  • Kalinin Subunit Beta 3 4
  • Nicein Subunit Beta 3 4
  • Laminin B1k Chain 3 4
  • Kalinin B1 Chain 3 4
  • LAMNB1 3 4
  • Laminin Subunit Beta-3 3
  • Laminin S B3 Chain 3
  • Kalinin-140kDa 3
  • Nicein-125kDa 3
  • BM600-125KDA 3
  • Kalinin 6
  • 140kD 6
  • AI1A 3
  • LAM5 3

External Ids for LAMB3 Gene

Previous HGNC Symbols for LAMB3 Gene

  • LAMNB1

Previous GeneCards Identifiers for LAMB3 Gene

  • GC01M208427
  • GC01M205494
  • GC01M206427
  • GC01M206867
  • GC01M206176
  • GC01M207854
  • GC01M209788
  • GC01M180463

Summaries for LAMB3 Gene

Entrez Gene Summary for LAMB3 Gene

  • 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]

GeneCards Summary for LAMB3 Gene

LAMB3 (Laminin, Beta 3) is a Protein Coding gene. Diseases associated with LAMB3 include epidermolysis bullosa, junctional, herlitz type and amelogenesis imperfecta, type ia. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is NTN3.

UniProtKB/Swiss-Prot for LAMB3 Gene

  • Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

Gene Wiki entry for LAMB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB3 Gene

Genomics for LAMB3 Gene

Regulatory Elements for LAMB3 Gene

Transcription factor binding sites by QIAGEN in the LAMB3 gene promoter:

Genomic Location for LAMB3 Gene

Start:
209,614,870 bp from pter
End:
209,652,475 bp from pter
Size:
37,606 bases
Orientation:
Minus strand

Genomic View for LAMB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMB3 Gene

Proteins for LAMB3 Gene

  • Protein details for LAMB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13751-LAMB3_HUMAN
    Recommended name:
    Laminin subunit beta-3
    Protein Accession:
    Q13751
    Secondary Accessions:
    • D3DT88
    • O14947
    • Q14733
    • Q9UJK4
    • Q9UJL1

    Protein attributes for LAMB3 Gene

    Size:
    1172 amino acids
    Molecular mass:
    129572 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1.

neXtProt entry for LAMB3 Gene

Proteomics data for LAMB3 Gene at MOPED

Post-translational modifications for LAMB3 Gene

  • Glycosylation at Asn220, Asn604, Ser712, and Asn810
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMB3 Gene

No data available for DME Specific Peptides for LAMB3 Gene

Domains for LAMB3 Gene

Gene Families for LAMB3 Gene

HGNC:
  • LAM :Laminins

Protein Domains for LAMB3 Gene

Suggested Antigen Peptide Sequences for LAMB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13751

UniProtKB/Swiss-Prot:

LAMB3_HUMAN :
  • Q13751
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure
  • Domain VI is globular
  • Contains 6 laminin EGF-like domains.
  • Contains 1 laminin N-terminal domain.
genes like me logo Genes that share domains with LAMB3: view

Function for LAMB3 Gene

Molecular function for LAMB3 Gene

GENATLAS Biochemistry: laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in stratifying squamous epithelium
UniProtKB/Swiss-Prot Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

Gene Ontology (GO) - Molecular Function for LAMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 7550320
GO:0005515 protein binding IPI 19275936
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with LAMB3: view
genes like me logo Genes that share phenotypes with LAMB3: view

Animal Model Products

miRNA for LAMB3 Gene

miRTarBase miRNAs that target LAMB3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMB3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for LAMB3 Gene

Localization for LAMB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMB3 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMB3 Gene COMPARTMENTS Subcellular localization image for LAMB3 gene
Compartment Confidence
extracellular 5
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LAMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane --
GO:0005610 laminin-5 complex IEA --
genes like me logo Genes that share ontologies with LAMB3: view

Pathways for LAMB3 Gene

genes like me logo Genes that share pathways with LAMB3: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for LAMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0008544 epidermis development TAS 7774918
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with LAMB3: view

Compounds for LAMB3 Gene

(1) Novoseek inferred chemical compound relationships for LAMB3 Gene

Compound -log(P) Hits PubMed IDs
kalinin 85.4 2
genes like me logo Genes that share compounds with LAMB3: view

Transcripts for LAMB3 Gene

Unigene Clusters for LAMB3 Gene

Laminin, beta 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMB3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5: - - - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11: -
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for LAMB3 Gene

GeneLoc Exon Structure for
LAMB3
ECgene alternative splicing isoforms for
LAMB3

Expression for LAMB3 Gene

mRNA expression in normal human tissues for LAMB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMB3 Gene

This gene is overexpressed in Minor Salivary Gland (5.7), Esophagus - Mucosa (4.7), Skin - Not Sun Exposed (Suprapubic) (4.1), and Skin - Sun Exposed (Lower leg) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMB3 Gene

SOURCE GeneReport for Unigene cluster for LAMB3 Gene Hs.497636

mRNA Expression by UniProt/SwissProt for LAMB3 Gene

Q13751-LAMB3_HUMAN
Tissue specificity: Found in the basement membranes (major component)
genes like me logo Genes that share expressions with LAMB3: view

In Situ Assay Products

Orthologs for LAMB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMB3 35
  • 99.03 (n)
  • 98.46 (a)
LAMB3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMB3 35
  • 85.21 (n)
  • 84.3 (a)
LAMB3 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMB3 35
  • 85.55 (n)
  • 84.81 (a)
LAMB3 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamb3 35
  • 82.28 (n)
  • 82.62 (a)
Lamb3 16
Lamb3 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMB3 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMB3 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamb3 35
  • 82.12 (n)
  • 82.75 (a)
chicken
(Gallus gallus)
Aves LAMB3 35
  • 62.38 (n)
  • 53.69 (a)
LAMB3 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMB3 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamb3 35
  • 58.01 (n)
  • 51.31 (a)
zebrafish
(Danio rerio)
Actinopterygii LAMB3 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5480 36
  • 33 (a)
OneToOne
Species with no ortholog for LAMB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LAMB3 Gene

ENSEMBL:
Gene Tree for LAMB3 (if available)
TreeFam:
Gene Tree for LAMB3 (if available)

Paralogs for LAMB3 Gene

Paralogs for LAMB3 Gene

Selected SIMAP similar genes for LAMB3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LAMB3: view

Variants for LAMB3 Gene

Sequence variations from dbSNP and Humsavar for LAMB3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2566 -- 209,615,169(-) TCATG(C/T)AGCCT utr-variant-3-prime
rs714971 -- 209,619,766(-) AGTGA(A/G)ACTGG intron-variant
rs742255 -- 209,621,207(+) ATGAG(G/T)GGCCA intron-variant
rs742256 -- 209,621,297(+) ATCCA(C/T)GTTTG intron-variant
rs742257 -- 209,621,957(-) TCACC(C/T)TCATT intron-variant

Relevant External Links for LAMB3 Gene

HapMap Linkage Disequilibrium report
LAMB3
Human Gene Mutation Database (HGMD)
LAMB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LAMB3 Gene

Disorders for LAMB3 Gene

(2) OMIM Diseases for LAMB3 Gene (150310)

UniProtKB/Swiss-Prot

LAMB3_HUMAN
  • Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. {ECO:0000269 PubMed:7550237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:17476356, ECO:0000269 PubMed:9767254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for LAMB3 Gene

(10) Novoseek inferred disease relationships for LAMB3 Gene

Disease -log(P) Hits PubMed IDs
epidermolysis bullosa junctional 98.5 42
gabeb 93.1 6
lethal junctional epidermolysis bullosa 91 2
epidermolysis bullosa 86.5 2
skin diseases 60 6

Relevant External Links for LAMB3

GeneTests
LAMB3
GeneReviews
LAMB3
Genetic Association Database (GAD)
LAMB3
Human Genome Epidemiology (HuGE) Navigator
LAMB3
genes like me logo Genes that share disorders with LAMB3: view

Publications for LAMB3 Gene

  1. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (PMID: 7774918) Pulkkinen L. … Uitto J. (Genomics 1995) 2 3 4 23
  2. The complete primary structure for a novel laminin chain, the laminin B1k chain. (PMID: 7512558) Gerecke D.R. … Burgeson R.E. (J. Biol. Chem. 1994) 3 4 23
  3. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). (PMID: 7550237) Pulkkinen L. … Uitto J. (Hum. Mutat. 1995) 3 4 23
  4. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. (PMID: 9767254) Mellerio J.E. … McGrath J.A. (Br. J. Dermatol. 1998) 3 4 23
  5. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PMID: 15370542) Hayashi M. … Allikmets R. (Ophthalmic Genet. 2004) 3 23 48

Products for LAMB3 Gene

Sources for LAMB3 Gene

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