Entity Details

Primary name B4GALT1
Entity type gene
Source Source Link

Details

PrimaryID2683
RefseqGeneNG_008919
SymbolB4GALT1
Namebeta-1,4-galactosyltransferase 1
Chromosome9
Location9p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-02
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsB4GT1_HUMAN

GO terms

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GOName
GO:0000138 Golgi trans cisterna
GO:0000139 Golgi membrane
GO:0002064 epithelial cell development
GO:0002526 acute inflammatory response
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0003945 N-acetyllactosamine synthase activity
GO:0004461 lactose synthase activity
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005989 lactose biosynthetic process
GO:0006012 galactose metabolic process
GO:0006487 protein N-linked glycosylation
GO:0007155 cell adhesion
GO:0007339 binding of sperm to zona pellucida
GO:0007341 penetration of zona pellucida
GO:0008092 cytoskeletal protein binding
GO:0008285 negative regulation of cell population proliferation
GO:0008378 galactosyltransferase activity
GO:0009312 oligosaccharide biosynthetic process
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0018146 keratan sulfate biosynthetic process
GO:0030057 desmosome
GO:0030145 manganese ion binding
GO:0030175 filopodium
GO:0030198 extracellular matrix organization
GO:0030667 secretory granule membrane
GO:0031526 brush border membrane
GO:0032580 Golgi cisterna membrane
GO:0035250 UDP-galactosyltransferase activity
GO:0035577 azurophil granule membrane
GO:0042802 identical protein binding
GO:0043014 alpha-tubulin binding
GO:0043065 positive regulation of apoptotic process
GO:0043312 neutrophil degranulation
GO:0045136 development of secondary sexual characteristics
GO:0048487 beta-tubulin binding
GO:0050900 leukocyte migration
GO:0060046 regulation of acrosome reaction
GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing
GO:0060055 angiogenesis involved in wound healing
GO:0070062 extracellular exosome
GO:0070085 glycosylation

Diseases

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Disease IDSourceNameDescription
607091 OMIMCongenital disorder of glycosylation 2D (CDG2D)A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.