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MGP001793

UniProt Annotations

Entry Information

Gene Name	laminin, beta 1
Protein Entry	LAMB1_HUMAN
UniProt ID	P07942
Species	Human

Comments

Comment type	Description
Disease	Lissencephaly 5 (LIS5) [MIM:615191]: An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. {ECO:0000269\|PubMed:23472759}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Domains VI and IV are globular.
Domain	The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
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. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface. {ECO:0000269\|PubMed:23472759}.
Similarity	Contains 13 laminin EGF-like domains. {ECO:0000255\|PROSITE-ProRule:PRU00460}.
Similarity	Contains 1 laminin IV type B domain. {ECO:0000255\|PROSITE-ProRule:PRU00462}.
Similarity	Contains 1 laminin N-terminal domain. {ECO:0000255\|PROSITE-ProRule:PRU00466}.
Subcellular Location	Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
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-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-6 (laminin- 311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin- 511) and laminin-12 (laminin-213).