Entity Details

Primary name B4GA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43505
EntryNameB4GA1_HUMAN
FullNameBeta-1,4-glucuronyltransferase 1
TaxID9606
Evidenceevidence at protein level
Length415
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-04-07

Ontological Relatives

GenesB4GAT1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0006493 protein O-linked glycosylation
GO:0015020 glucuronosyltransferase activity
GO:0018146 keratan sulfate biosynthetic process
GO:0030173 integral component of Golgi membrane
GO:0035269 protein O-linked mannosylation
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR043189 Beta-1,4-glucuronyltransferase 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
615287 OMIMMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13)An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions