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B4GAT1 [Golgi membrane]
Stable Identifier
R-HSA-916821
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
B3GNT1, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, B3GN1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective LARGE causes MDDGA6 and MDDGB6 (Homo sapiens)
Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA (Homo sapiens)
B4GAT1:LARGE mutants [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
Metabolism (Homo sapiens)
Metabolism of carbohydrates (Homo sapiens)
Glycosaminoglycan metabolism (Homo sapiens)
Keratan sulfate/keratin metabolism (Homo sapiens)
Keratan sulfate biosynthesis (Homo sapiens)
B3GNT1,2,3,4,7 add GlcNAc to form Keratan-PG (Homo sapiens)
B3GNT1,2,3,4,7 [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
Metabolism of proteins (Homo sapiens)
Post-translational protein modification (Homo sapiens)
O-linked glycosylation (Homo sapiens)
B4GAT1:GYLTL1B transfers GlcA from UDP-GlcA to Xyl-GlcA (Homo sapiens)
B4GAT1:GYLTL1B [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
B4GAT1:GYLTL1B transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA (Homo sapiens)
B4GAT1:GYLTL1B [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
B4GAT1:LARGE transfers GlcA from UDP-GlcA to Xyl-GlcA (Homo sapiens)
B4GAT1:LARGE [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA (Homo sapiens)
B4GAT1:LARGE [Golgi membrane] (Homo sapiens)
B4GAT1 [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O43505 B4GAT1
Gene Names
B4GAT1, B3GNT1, B3GNT6
Chain
chain:1-415
Reference Genes
BioGPS Gene:11041 B4GAT1
COSMIC (genes):B4GAT1 B4GAT1
CTD Gene:11041 B4GAT1
dbSNP Gene:11041 B4GAT1
ENSEMBL:ENSG00000174684 B4GAT1
ENSEMBL_homo_sapiens_GENE:ENSG00000174684.7 B4GAT1
HGNC:15685 B4GAT1
KEGG Gene (Homo sapiens):11041 B4GAT1
Monarch:11041 B4GAT1
NCBI Gene:11041 B4GAT1
OMIM:605517 B4GAT1
UCSC:O43505 B4GAT1
Reference Transcript
RefSeq:NM_006876.2 B4GAT1
Other Identifiers
11041
11716787_a_at
11716788_at
11751305_a_at
16740770
203188_PM_at
203188_at
33140_at
3378226
3378227
3378229
3378230
3378231
3378232
3378233
3378236
3378237
3378238
3378239
7949615
A_23_P86900
GE54227
GO:0000139
GO:0003824
GO:0005515
GO:0005576
GO:0005615
GO:0005794
GO:0006486
GO:0006790
GO:0007411
GO:0008532
GO:0015020
GO:0016020
GO:0016740
GO:0016757
GO:0018146
GO:0030154
GO:0035269
GO:0036211
GO:0043226
GO:0046872
GO:0048856
GO:0070062
GO:1901135
HMNXSV003036151
ILMN_1715384
PH_hs_0000905
TC11001965.hg
g5802983_3p_at
Participates
as a component of
B4GAT1:LARGE mutants [Golgi membrane] (Homo sapiens)
B4GAT1:LARGE [Golgi membrane] (Homo sapiens)
B4GAT1:GYLTL1B [Golgi membrane] (Homo sapiens)
as a member of
B3GNT1,2,3,4,7 [Golgi membrane] (Homo sapiens)
Inferred To
BEST:GH04269 [Golgi membrane]
(Drosophila melanogaster)
Ghost homologue of B4GAT1 [Golgi membrane]
(Rattus norvegicus)
b4gat1 [Golgi membrane]
(Xenopus tropicalis)
B4GAT1 [Golgi membrane]
(Bos taurus)
B4GAT1 [Golgi membrane]
(Canis familiaris)
B4GAT1 [Golgi membrane]
(Danio rerio)
B4GAT1 [Golgi membrane]
(Mus musculus)
B4GAT1 [Golgi membrane]
(Sus scrofa)
Cross References
RefSeq
NP_006867.1
OpenTargets
ENSG00000174684
HPA
ENSG00000174684-B4GAT1
GeneCards
O43505
Ensembl
ENST00000311181
,
ENSG00000174684
,
ENSP00000309096
PRO
O43505
Pharos - Targets
O43505
Orphanet
22031
HMDB Protein
HMDBP01704
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