Entity Details

Primary name LAMA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP25391
EntryNameLAMA1_HUMAN
FullNameLaminin subunit alpha-1
TaxID9606
Evidenceevidence at protein level
Length3075
SequenceStatuscomplete
DateCreated1992-05-01
DateModified2021-06-02

Ontological Relatives

GenesLAMA1

GO terms

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GOName
GO:0002011 morphogenesis of an epithelial sheet
GO:0005102 signaling receptor binding
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005606 laminin-1 complex
GO:0005608 laminin-3 complex
GO:0005615 extracellular space
GO:0005911 cell-cell junction
GO:0006468 protein phosphorylation
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0007411 axon guidance
GO:0008022 protein C-terminus binding
GO:0009887 animal organ morphogenesis
GO:0009888 tissue development
GO:0016020 membrane
GO:0030155 regulation of cell adhesion
GO:0030198 extracellular matrix organization
GO:0030334 regulation of cell migration
GO:0031012 extracellular matrix
GO:0043010 camera-type eye development
GO:0043208 glycosphingolipid binding
GO:0045198 establishment of epithelial cell apical/basal polarity
GO:0045995 regulation of embryonic development
GO:0048514 blood vessel morphogenesis
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0061304 retinal blood vessel morphogenesis
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000034 Laminin IVDomainDomain
IPR000742 EGF-like domainDomainDomain
IPR001791 Laminin G domainDomainDomain
IPR002049 Laminin EGF domainDomainDomain
IPR008211 Laminin, N-terminalDomainDomain
IPR009254 Laminin alpha, domain IDomainDomain
IPR010307 Laminin domain IIDomainDomain
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615960 OMIMPoretti-Boltshauser syndrome (PTBHS)An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB06245 LanoteplaseDrugbankbiotech