Entity Details

Primary name B3GA3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94766
EntryNameB3GA3_HUMAN
FullNameGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
TaxID9606
Evidenceevidence at protein level
Length335
SequenceStatuscomplete
DateCreated2001-06-01
DateModified2021-06-02

Ontological Relatives

GenesB3GAT3

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030203 glycosaminoglycan metabolic process
GO:0043085 positive regulation of catalytic activity
GO:0046872 metal ion binding
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process
GO:0050651 dermatan sulfate proteoglycan biosynthetic process
GO:0070062 extracellular exosome
GO:0072542 protein phosphatase activator activity
GO:0090316 positive regulation of intracellular protein transport

Subcellular Location

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Subcellular Location
Golgi apparatus
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR005027 Glycosyl transferase, family 43FamilyFamily
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
245600 OMIMMultiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD)An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB03041 UDP-alpha-D-glucuronic acidDrugbanksmall molecule
DB03435 Uridine-5'-DiphosphateDrugbanksmall molecule

Interactions

6 interactions