Laminin, beta 3

LAMB3
Identifiers
Aliases	LAMB3 , BM600-125KDA, LAM5, LAMNB1, AI1A, Laminin, beta 3, laminin subunit beta 3, JEB1B, JEB1A
External IDs	OMIM: 150310; MGI: 99915; HomoloGene: 191; GeneCards: LAMB3; OMA:LAMB3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q32.2 Start 209,614,870 bp [1] End 209,652,425 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 H6|1 97.71 cM Start 192,890,007 bp [2] End 193,026,186 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cartilage tissue periodontal fiber gingival epithelium olfactory zone of nasal mucosa jejunal mucosa mucosa of transverse colon skin of leg mucosa of ileum skin of abdomen mucosa of esophagus Top expressed in molar epithelium of stomach left colon granulocyte corneal stroma transitional epithelium of urinary bladder lip left lung mucous cell of stomach lactiferous gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural molecule activity protein-containing complex binding extracellular matrix structural constituent Cellular component extracellular region basement membrane laminin-5 complex collagen-containing extracellular matrix laminin complex Biological process hemidesmosome assembly cell adhesion extracellular matrix organization endodermal cell differentiation brown fat cell differentiation epidermis development animal organ morphogenesis tissue development cell migration substrate adhesion-dependent cell spreading basement membrane assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3914 16780 Ensembl ENSG00000196878 ENSMUSG00000026639 UniProt Q13751 Q61087 RefSeq (mRNA) NM_000228 NM_001017402 NM_001127641 NM_001277928 NM_008484 RefSeq (protein) NP_000219 NP_001017402 NP_001121113 NP_001264857 NP_032510 Location (UCSC) Chr 1: 209.61 – 209.65 Mb Chr 1: 192.89 – 193.03 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene. ^{[5] [6] [7]}

LAMB3 encodes the beta 3 subunit of laminin. Laminin is composed of three subunits (alpha, beta, and gamma), and refers to a family of basement membrane proteins. For example, LAMB3 serves as the beta chain in laminin-5. Mutations in LAMB3 have been identified as the cause of various types of epidermolysis bullosa. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000196878 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026639 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Vailly J, Szepetowski P, Mattei MG, Pedeutour F, Burgeson R, Ortonne JP, Meneguzzi G (Oct 1994). "The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31". Genomics. 21 (1): 286–8. doi:10.1006/geno.1994.1263. PMID   8088808.
6. Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J (Jul 1995). "Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa". Genomics. 25 (1): 192–8. doi:10.1016/0888-7543(95)80125-6. PMID   7774918.
7. "Entrez Gene: LAMB3 laminin, beta 3".

Further reading

• Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE (1994). "The complete primary structure for a novel laminin chain, the laminin B1k chain". J. Biol. Chem. 269 (15): 11073–80. doi: 10.1016/S0021-9258(19)78093-4 . PMID   7512558.
• Pulkkinen L, McGrath JA, Christiano AM, Uitto J (1995). "Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)". Hum. Mutat. 6 (1): 77–84. doi: 10.1002/humu.1380060115 . PMID   7550237. S2CID   42814229.
• McGrath JA, Gatalica B, Christiano AM, et al. (1995). "Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa". Nat. Genet. 11 (1): 83–6. doi:10.1038/ng0995-83. PMID   7550320. S2CID   23732185.
• Pulkkinen L, Christiano AM, Gerecke D, et al. (1995). "A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa". Genomics. 24 (2): 357–60. doi:10.1006/geno.1994.1627. PMID   7698759.
• McGrath JA, Pulkkinen L, Christiano AM, et al. (1995). "Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa". J. Invest. Dermatol. 104 (4): 467–74. doi: 10.1111/1523-1747.ep12605904 . PMID   7706760.
• Rousselle P, Golbik R, van der Rest M, Aumailley M (1995). "Structural requirement for cell adhesion to kalinin (laminin-5)". J. Biol. Chem. 270 (23): 13766–70. doi: 10.1074/jbc.270.23.13766 . PMID   7775432.
• Morishima Y, Ariyama T, Yamanishi K, et al. (1996). "Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization". Genomics. 28 (2): 273–9. doi:10.1006/geno.1995.1141. PMID   8530036.
• Kivirikko S, McGrath JA, Pulkkinen L, et al. (1996). "Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa". Hum. Mol. Genet. 5 (2): 231–7. doi: 10.1093/hmg/5.2.231 . PMID   8824879.
• Ashton GH, Mellerio JE, Dunnill MG, et al. (1997). "A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele". Br. J. Dermatol. 136 (5): 674–7. doi:10.1111/j.1365-2133.1997.tb03650.x. PMID   9205497.
• Pulkkinen L, Meneguzzi G, McGrath JA, et al. (1997). "Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy". J. Invest. Dermatol. 109 (2): 232–7. doi: 10.1111/1523-1747.ep12319752 . PMID   9242513.
• Takizawa Y, Shimizu H, Pulkkinen L, et al. (1998). "Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing". J. Invest. Dermatol. 110 (2): 174–8. doi: 10.1046/j.1523-1747.1998.00105.x . PMID   9457915.
• Posteraro P, Sorvillo S, Gagnoux-Palacios L, et al. (1998). "Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa". Biochem. Biophys. Res. Commun. 243 (3): 758–64. doi:10.1006/bbrc.1998.8180. PMID   9501007.
• Takizawa Y, Pulkkinen L, Shimizu H, et al. (1998). "Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa". J. Invest. Dermatol. 110 (5): 828–31. doi: 10.1046/j.1523-1747.1998.00186.x . PMID   9579554.
• Mellerio JE, Eady RA, Atherton DJ, et al. (1999). "E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa". Br. J. Dermatol. 139 (2): 325–31. doi:10.1046/j.1365-2133.1998.02377.x. PMID   9767254. S2CID   32996449.
• Aho S, Uitto J (1999). "Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1". Matrix Biol. 17 (6): 401–12. doi:10.1016/S0945-053X(98)90100-7. PMID   9840442.
• Pulkkinen L, Uitto J (1999). "Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa". J. Invest. Dermatol. 111 (6): 1244–6. doi: 10.1046/j.1523-1747.1998.00399.x . PMID   9856855.
• Chen M, Marinkovich MP, Jones JC, et al. (1999). "NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats". J. Invest. Dermatol. 112 (2): 177–83. doi: 10.1046/j.1523-1747.1999.00491.x . PMID   9989793.
• Floeth M, Bruckner-Tuderman L (2000). "Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes". Am. J. Hum. Genet. 65 (6): 1530–7. doi:10.1086/302672. PMC   1288363 . PMID   10577906.