Entity Details

Primary name LAMB3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13751
EntryNameLAMB3_HUMAN
FullNameLaminin subunit beta-3
TaxID9606
Evidenceevidence at protein level
Length1172
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesLAMB3

GO terms

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GOName
GO:0005198 structural molecule activity
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0008544 epidermis development
GO:0009887 animal organ morphogenesis
GO:0009888 tissue development
GO:0016477 cell migration
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031581 hemidesmosome assembly
GO:0034446 substrate adhesion-dependent cell spreading
GO:0035987 endodermal cell differentiation
GO:0043256 laminin complex
GO:0044877 protein-containing complex binding
GO:0062023 collagen-containing extracellular matrix
GO:0070831 basement membrane assembly

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR002049 Laminin EGF domainDomainDomain
IPR008211 Laminin, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
104530 OMIMAmelogenesis imperfecta 1A (AI1A)A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. The disease is caused by variants affecting the gene represented in this entry.
226650 OMIMGeneralized atrophic benign epidermolysis bullosa (GABEB)A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. The disease is caused by variants affecting the gene represented in this entry.
226700 OMIMEpidermolysis bullosa, junctional, Herlitz type (H-JEB)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. The disease is caused by variants affecting the gene represented in this entry.