Homo sapiens Protein: LAMA3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-230216.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | LAMA3 | ||||||||||||||||||||||
Protein Name | laminin, alpha 3 | ||||||||||||||||||||||
Synonyms | BM600; E170; lama3a; LAMNA; LOCS; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000382432 | ||||||||||||||||||||||
InnateDB Gene | IDBG-1631 (LAMA3) | ||||||||||||||||||||||
Protein Structure |
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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.Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha- 6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes. | ||||||||||||||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. | ||||||||||||||||||||||
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. Note=The disease is caused by mutations affecting the gene represented in this entry.Laryngoonychocutaneous syndrome (LOCS) [MIM:245660]: Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A differential and focal expression of the subunit alpha-3 is observed in the CNS. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 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 |
IPR000034
Laminin B type IV IPR000742 Epidermal growth factor-like domain IPR001791 Laminin G domain IPR002049 EGF-like, laminin IPR008211 Laminin, N-terminal IPR008979 Galactose-binding domain-like IPR008985 Concanavalin A-like lectin/glucanases superfamily IPR009030 Insulin-like growth factor binding protein, N-terminal IPR009254 Laminin I IPR010307 Laminin domain II IPR015988 STAT transcription factor, coiled coil IPR018031 Laminin B, subgroup |
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PFAM |
PF00052
PF00008 PF00054 PF02210 PF00053 PF00055 PF06008 PF06009 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00181
SM00210 SM00282 SM00180 SM00136 SM00281 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q16787 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q16787 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3909 | ||||||||||||||||||||||
UniGene | Hs.685087 | ||||||||||||||||||||||
RefSeq | NP_001121189 | ||||||||||||||||||||||
HUGO | HGNC:6483 | ||||||||||||||||||||||
OMIM | 600805 | ||||||||||||||||||||||
CCDS | CCDS45838 | ||||||||||||||||||||||
HPRD | 02883 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB107369 AC010754 AC067796 AC090366 AY327114 AY327115 AY327116 EF444992 L34155 X84900 X85107 X85108 | ||||||||||||||||||||||
GenPept | AAA59483 AAQ72569 AAQ72570 AAQ72571 ACA06011 BAD13428 CAA59325 CAA59428 CAA59429 | ||||||||||||||||||||||