• Gene id: 3914

Gene Summary

• Gene Symbol: LAMB3   Gene   UCSC   Ensembl
• Aliases: AI1A, BM600-125KDA, LAM5, LAMNB1
• Gene name: laminin subunit beta 3
• Alternate names: laminin subunit beta-3, 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 b,
• Gene location: 1q32.2 (209652466: 209614869)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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 bul
• OMIM: 612993

Protein Summary

• Protein general information: Q13751  
  • Name: Laminin subunit beta 3 (Epiligrin subunit bata) (Kalinin B1 chain) (Kalinin subunit beta) (Laminin B1k chain) (Laminin 5 subunit beta) (Nicein subunit beta)
  • Length: 1172  
  • Mass: 129572
  • Tissue specificity: Found in the basement membranes (major component).
• Sequence:

  MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYGEWQMKCCKCDSRQPH
  NYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVMMEFQGPMPAGMLIERSSDFGKTWRVYQYLA
  ADCTSTFPRVRQGRPQSWQDVRCQSLPQRPNARLNGGKVQLNLMDLVSGIPATQSQKIQEVGEITNLRVNFTRLA
  PVPQRGYHPPSAYYAVSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCVCQHNTAGPNCERCAPFYNNR
  PWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHTEGKNCERCQLHYFRNRRPGASIQET
  CISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGLTYANPQGCHRCDCNILGSRRDMPCDEESGR
  CLCLPNVVGPKCDQCAPYHWKLASGQGCEPCACDPHNSLSPQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYG
  DVATGCRACDCDFRGTEGPGCDKASGRCLCRPGLTGPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFG
  RLRNATASLWSGPGLEDRGLASRILDAKSKIEQIRAVLSSPAVTEQEVAQVASAILSLRRTLQGLQLDLPLEEET
  LSLPRDLESLDRSFNGLLTMYQRKREQFEKISSADPSGAFRMLSTAYEQSAQAAQQVSDSSRLLDQLRDSRREAE
  RLVRQAGGGGGTGSPKLVALRLEMSSLPDLTPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRA
  GGAFLMAGQVAEQLRGFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLT
  DPDTDAATIQEVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARARRLQAEAEEARSRAHA
  VEGQVEDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQVLRPAEKLVTSMTKQLGDFWTRMEELRHQA
  RQQGAEAVQAQQLAEGASEQALSAQEGFERIKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETMEMMDR
  MKDMELELLRGSQAIMLRSADLTGLEKRVEQIRDHINGRVLYYATCK

• Structural information:
  • Protein Domains: (22..24-)
    (/note="Laminin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00466-)
    (250..31-)
    1 (/note="Laminin-EGF-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00460-)
    (316..37-)
    2 (/note="Laminin-EGF-like)
    (/evidence="ECO:-)
  • Interpro: IPR013032  IPR002049  IPR008211  IPR038684  
  • Prosite: PS00022 PS01186 PS01248 PS50027 PS51117
  • STRING: ENSP00000375778
• Other Databases: GeneCards:  LAMB3  Malacards:  LAMB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005178	integrin binding	IBA	molecular function
GO:0009888	tissue development	IBA	biological process
GO:0034446	substrate adhesion-dependent cell spreading	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0043256	laminin complex	IBA	cellular component
GO:0070831	basement membrane assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0005610	laminin-5 complex	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0035987	endodermal cell differentiation	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04512	ECM-receptor interaction
hsa05145	Toxoplasmosis
hsa05222	Small cell lung cancer
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Epidermolysis bullosa	KEGG:H00586
Amelogenesis imperfecta	KEGG:H00615
Epidermolysis bullosa	KEGG:H00586
Junctional epidermolysis bullosa	PMID:7698759
lung non-small cell carcinoma	PMID:10964684
lung small cell carcinoma	PMID:12855645
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881