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
Locations in the PathwayBrowser
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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:hsa:26229 B3GAT3
Monarch:26229 B3GAT3
NCBI Gene:26229 B3GAT3
OMIM:606374 B3GAT3
UCSC:O94766 B3GAT3
Reference Transcript
Other Identifiers
11746346_s_at
11746347_s_at
16739383
203452_PM_at
203452_at
26229
2650289
2650290
2650292
2650295
3375936
3375937
3375938
3375939
3375940
3375941
3375945
3375946
3375948
3375949
3375950
35179_PM_at
35179_at
7948741
A_23_P36140
A_33_P3225685
GE53235
GO:0000139
GO:0005515
GO:0005794
GO:0005801
GO:0005975
GO:0006024
GO:0006486
GO:0006790
GO:0015012
GO:0015018
GO:0015020
GO:0016020
GO:0016740
GO:0043085
GO:0043226
GO:0046872
GO:0050650
GO:0050651
GO:0070062
GO:0072542
GO:0090316
GO:0098772
GO:1901135
HMNXSV003053947
ILMN_2210581
PH_hs_0032143
TC11001872.hg
g12408653_3p_s_at
Participates
as a component of
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
ENSEMBL
OpenTargets
Mondo
PRO
GlyGen
PDB
IntEnz
GeneCards
HPA
Pharos - Targets
Orphanet
HMDB Protein
Interactors (4)
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