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B3GAT3 R277Q [Golgi membrane]
Stable Identifier
R-HSA-3621732
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, B3GA3_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective B3GAT3 causes JDSSDHD (Homo sapiens)
Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker (Homo sapiens)
B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] (Homo sapiens)
B3GAT3 R277Q [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O94766 B3GAT3
Gene Names
B3GAT3
Chain
chain:1-335
Reference Genes
BioGPS Gene:26229 B3GAT3
COSMIC (genes):B3GAT3 B3GAT3
CTD Gene:26229 B3GAT3
dbSNP Gene:26229 B3GAT3
ENSEMBL:ENSG00000149541 B3GAT3
HGNC:923 B3GAT3
KEGG Gene (Homo sapiens):26229 B3GAT3
Monarch:26229 B3GAT3
NCBI Gene:26229 B3GAT3
OMIM:606374 B3GAT3
UCSC:O94766 B3GAT3
Reference Transcript
RefSeq:NM_001288723.1 B3GAT3
RefSeq:NM_012200.3 B3GAT3
Other Identifiers
0001340451
11746346_s_at
11746347_s_at
16739383
203452_at
26229
2650289
2650290
2650292
2650295
3375936
3375937
3375939
3375940
3375945
3375946
3375949
35179_at
7948741
A_23_P36140
A_33_P3225685
GE53235
GO:0000139
GO:0003674
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005794
GO:0005801
GO:0005975
GO:0006024
GO:0006464
GO:0006486
GO:0006810
GO:0008150
GO:0009058
GO:0015012
GO:0015018
GO:0015020
GO:0015031
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0030203
GO:0030234
GO:0043085
GO:0043167
GO:0043226
GO:0046872
GO:0050650
GO:0050651
GO:0070062
GO:0072542
GO:0090316
HMNXSV003053947
ILMN_1721432
ILMN_2210581
PH_hs_0032143
TC11001872.hg
g12408653_3p_s_at
Participates
as a component of
B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] (Homo sapiens)
Other forms of this molecule
B3GAT3 [Golgi membrane]
Modified Residues
Name
L-arginine 277 replaced with L-glutamine
Coordinate
277
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name
Identifier
Synonyms
Larsen syndrome
DOID:14764
dominant larsen syndrome
congenital heart defect
DOID:1682
Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation
Cross References
RefSeq
NP_001275652.1
,
NP_036332.2
OpenTargets
ENSG00000149541
IntEnz
2.4.1.135
HPA
ENSG00000149541-B3GAT3
GeneCards
O94766
Ensembl
ENSP00000265471
,
ENST00000534026
,
ENST00000265471
,
ENSG00000149541
,
ENSP00000432474
PRO
O94766
Pharos - Targets
O94766
Orphanet
20577
GlyGen
O94766
PDB
1FGG
,
3CU0
,
1KWS
HMDB Protein
HMDBP00933
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9H5K3 POMK
1
POMK [endoplasmic reticulum membrane]
(R-HSA-8879120)
0.499
2
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