full name
beta-1,4-galactosyltransferase 1

synonyms
B4GAL-T1, beta4Gal-T1, CDG2D, GGTB2, GT1, GTB, B4GALT1, ENSG00000086062

HGNC
HGNC:924

Entrez Gene
Gene:2683

ENSEMBL
ENSG00000086062

location
chr: 9
start: 33110636
stop: 33167356
strand: -

OMIM
OMIM:137060: B4GALT1 (Autosomal recessive inheritance)
OMIM:607091: Congenital disorder of glycosylation, type IId

transcripts
NM_001497.3

pathways
Asparagine N-linked glycosylation [NCBI:1268714] [REACTOME:R-HSA-446203] [PUBMED:16807922] [PUBMED:19647993] [PUBMED:10580125] [PUBMED:19616933] [PUBMED:20301507] [PUBMED:20301244]
Fertilization [NCBI:1269334] [REACTOME:R-HSA-1187000] [PUBMED:16467268] [PUBMED:12479616]
Galactose metabolism [NCBI:82931] [KEGG:hsa00052]
Glycosaminoglycan biosynthesis - keratan sulfate [NCBI:82983] [KEGG:hsa00533] [PUBMED:14706853] [PUBMED:11030741] [PUBMED:12511560]
Glycosaminoglycan metabolism [NCBI:1269972] [REACTOME:R-HSA-1630316] [PUBMED:18201392] [PUBMED:20301236] [PUBMED:820626]
Glycosphingolipid biosynthesis - lacto and neolacto series [NCBI:82995] [KEGG:hsa00601]
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer [NCBI:413372] [KEGG:hsa_M00071]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Interaction With The Zona Pellucida [NCBI:1269337] [REACTOME:R-HSA-1300644] [PUBMED:20364096]
Keratan sulfate biosynthesis [NCBI:1269978] [REACTOME:R-HSA-2022854] [PUBMED:12512857] [PUBMED:20213925] [PUBMED:11030741]
Keratan sulfate/keratin metabolism [NCBI:1269977] [REACTOME:R-HSA-1638074] [PUBMED:11030741] [PUBMED:16287098] [PUBMED:12512857]
Lactose synthesis [NCBI:1269968] [REACTOME:R-HSA-5653890] [PUBMED:806951]
Mannose type O-glycan biosynthesis [NCBI:1469011] [KEGG:hsa00515] [PUBMED:24786756] [PUBMED:26923585] [PUBMED:27733679] [PUBMED:21945038]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
N-Glycan antennae elongation [NCBI:1268733] [REACTOME:R-HSA-975577] [PUBMED:20816477] [PUBMED:16807922]
N-Glycan biosynthesis [NCBI:82975] [KEGG:hsa00510] [PUBMED:12684507] [PUBMED:16878994] [PUBMED:11278778] [PUBMED:9111134] [PUBMED:12200473] [PUBMED:15987956]
N-glycan antennae elongation in the medial/trans-Golgi [NCBI:1268730] [REACTOME:R-HSA-975576] [PUBMED:20816477] [PUBMED:16807922] [PUBMED:11421343] [PUBMED:3896128]
N-glycan biosynthesis, complex type [NCBI:413356] [KEGG:hsa_M00075]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Other types of O-glycan biosynthesis [NCBI:82978] [KEGG:hsa00514] [PUBMED:19429925] [PUBMED:22669261]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Pre-NOTCH Expression and Processing [NCBI:1269531] [REACTOME:R-HSA-1912422] [PUBMED:21490058] [PUBMED:20805998] [PUBMED:21464368] [PUBMED:9187150] [PUBMED:11707585] [PUBMED:10669757] [PUBMED:9244302] [PUBMED:20080834] [PUBMED:18347015] [PUBMED:19773441] [PUBMED:9207795] [PUBMED:10935637] [PUBMED:19714243] [PUBMED:18243100] [PUBMED:19723635] [PUBMED:11524432] [PUBMED:9727485] [PUBMED:12486116] [PUBMED:20495621] [PUBMED:10935626] [PUBMED:20351093] [PUBMED:19701457] [PUBMED:21602795] [PUBMED:21551231] [PUBMED:9653148]
Pre-NOTCH Processing in Golgi [NCBI:1269534] [REACTOME:R-HSA-1912420] [PUBMED:9244302] [PUBMED:1764995] [PUBMED:8681805] [PUBMED:10366590] [PUBMED:10935637] [PUBMED:1295745] [PUBMED:7918097] [PUBMED:10935626] [PUBMED:20170518] [PUBMED:9727485] [PUBMED:19701457] [PUBMED:8293978] [PUBMED:20197277] [PUBMED:9653148] [PUBMED:11135303] [PUBMED:9187150] [PUBMED:11707585] [PUBMED:10459009] [PUBMED:10669757]
Reproduction [NCBI:1269333] [REACTOME:R-HSA-1474165]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by NOTCH [NCBI:1269530] [REACTOME:R-HSA-157118]
Transport to the Golgi and subsequent modification [NCBI:1268725] [REACTOME:R-HSA-948021] [PUBMED:12717434] [PUBMED:10412983] [PUBMED:3594573]