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]
