Homo sapiens Protein: LAMB3
Summary
InnateDB Protein IDBP-106425.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LAMB3
Protein Name laminin, beta 3
Synonyms BM600-125KDA; LAM5; LAMNB1;
Species Homo sapiens
Ensembl Protein ENSP00000355997
InnateDB Gene IDBG-106421 (LAMB3)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Secreted, extracellular space, extracellular matrix, basement membrane.
Disease Associations 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:0000269PubMed: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:0000269PubMed:17476356, ECO:0000269PubMed:9767254}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Found in the basement membranes (major component).
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0008544 epidermis development
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0031581 hemidesmosome assembly
GO:0034329 cell junction assembly
Cellular Component
GO:0005576 extracellular region
Protein Structure and Domains
PDB ID
InterPro IPR002049 EGF-like, laminin
IPR008211 Laminin, N-terminal
IPR008979 Galactose-binding domain-like
PFAM PF00053
PF00055
PRINTS
PIRSF
SMART SM00180
SM00136
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13751
PhosphoSite PhosphoSite-Q13751
TrEMBL X1WI29
UniProt Splice Variant
Entrez Gene 3914
UniGene Hs.623572
RefSeq NP_001121113
HUGO HGNC:6490
OMIM 150310
CCDS CCDS1487
HPRD 01032
IMGT
EMBL AL023754 AL031316 AY035783 BC075838 CH471100 D37766 L25541 U17745 U17746 U17747 U17748 U17749 U17750 U17751 U17752 U17753 U17754 U17755 U17756 U17757 U17758 U17759 U17760
GenPept AAA61834 AAC51352 AAH75838 AAK61364 BAA22263 CAA19297 CAI19989 CAI20062 EAW93448 EAW93449