Homo sapiens Protein: LAMB3 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-246734.6 | ||||||||||||||||||
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 | ENSP00000375778 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002049
EGF-like, laminin IPR008211 Laminin, N-terminal IPR008979 Galactose-binding domain-like |
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PFAM |
PF00053
PF00055 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00180
SM00136 |
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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_001017402 | ||||||||||||||||||
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 | ||||||||||||||||||