Human Gene LAMB3 (uc001hhh.3) Description and Page Index
Description: Homo sapiens laminin, beta 3 (LAMB3), transcript variant 1, mRNA. RefSeq Summary (NM_000228): 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 bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:209,788,218-209,825,820 Size: 37,603 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr1:209,788,616-209,824,289 Size: 35,674 Coding Exon Count: 22
ID:LAMB3_HUMAN DESCRIPTION: RecName: Full=Laminin subunit beta-3; AltName: Full=Epiligrin subunit bata; AltName: Full=Kalinin B1 chain; AltName: Full=Kalinin subunit beta; AltName: Full=Laminin B1k chain; AltName: Full=Laminin-5 subunit beta; AltName: Full=Nicein subunit beta; Flags: Precursor; 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. SUBUNIT: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. TISSUE SPECIFICITY: Found in the basement membranes (major component). DOMAIN: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. DOMAIN: Domain VI is globular. DISEASE: Defects in LAMB3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]; also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. DISEASE: Defects in LAMB3 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. SIMILARITY: Contains 6 laminin EGF-like domains. SIMILARITY: Contains 1 laminin N-terminal domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMB3";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LAMB3 CDC HuGE Published Literature: LAMB3
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13751
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.