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 Gene (Homo sapiens):26229 B3GAT3
Monarch:26229 B3GAT3
NCBI Gene:26229 B3GAT3
OMIM:606374 B3GAT3
UCSC:O94766 B3GAT3
Reference Transcript
Other Identifiers
0001340451
11746346_s_at
11746347_s_at
16739383
1FGG
1KWS
203452_at
26229
2650289
2650290
2650292
2650295
3375936
3375937
3375939
3375940
3375945
3375946
3375949
35179_at
3CU0
51328
7948741
A_23_P36140
A_33_P3225685
AAH07906
AAH71961
AB009598
AJ005865
AK316228
AP001458
B3GAT3
B3GAT3-201
B3GAT3-205
BAA34537
BAH14599
BC007906
BC071961
CAA06742
CCDS76418
CCDS8025
E9PNA1
E9PQ60
ENSG00000149541
ENSP00000265471
ENSP00000432474
ENST00000265471
ENST00000265471.9
ENST00000534026
ENST00000534026.5
EntrezGene:26229
EntrezGene:B3GAT3
g12408653_3p_s_at
G3V150
GE53235
GO:0000139
GO:0003674
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
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:0043666
GO:0046872
GO:0050650
GO:0050651
GO:0070062
GO:0072542
GO:0090316
HGNC:923
HPA051328
ILMN_1721432
ILMN_2210581
IPR005027
IPR029044
MIM:245600
MIM:606374
NM_001288721
NM_001288723
NM_012200
NP_001275650
NP_001275652
NP_036332
PF03360
PH_hs_0032143
TC11001872.hg
UPI000006F88E
UPI00019154E2
Participant Of
hasComponent
Other forms of this molecule
B3GAT3 [Golgi membrane]
Modified Residues
Name
L-arginine 277 replaced with L-glutamine
Coordinate
277
PsiMod
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
congenital heart defect 1682 Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation
Larsen syndrome 14764 dominant larsen syndrome
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Orphanet
HMDB Protein
PDB
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