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Beta-1,4-galactosyltransferase 1

Summary

UniProt ID: P15291
Gene Symbol: B4GALT1 GGTB2
Gene ID: 2683
Organism: Homo sapiens (human)

External Links

GlyGen: P15291
PubChem: P15291
The Human Metabolome Database: HMDBP00377
The O-GlcNAc Database: P15291
RaftProt: P15291
O-GlcNAcAtlas: P15291
Re-Glyco: P15291

Annotation

Keyword: 3D-structure Alternative initiation Cell membrane Cell projection Congenital disorder of glycosylation Direct protein sequencing Disease variant Disulfide bond Glycoprotein Glycosyltransferase Golgi apparatus Lipid metabolism Manganese Metal-binding Proteomics identification Reference proteome Secreted Signal-anchor Transmembrane helix

Gene Ontology (GO)

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	Reference
epithelial cell development
acute inflammatory response
lactose biosynthetic process	NAS	PMID
lactose biosynthetic process	TAS	Reactome
galactose metabolic process

GO Hierarchy

biological process

immune system process [inference]

leukocyte migration [inference]

mononuclear cell migration [inference]

macrophage migration

myeloid leukocyte migration [inference]

macrophage migration

cellular process [inference]

cell adhesion

cell recognition [inference]

cell-cell recognition [inference]

sperm-egg recognition [inference]

binding of sperm to zona pellucida

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

disaccharide biosynthetic process [inference]

lactose biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

oligosaccharide metabolic process [inference]

disaccharide metabolic process [inference]

lactose metabolic process [inference]

lactose biosynthetic process

disaccharide biosynthetic process [inference]

lactose biosynthetic process

oligosaccharide biosynthetic process

disaccharide biosynthetic process [inference]

lactose biosynthetic process

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

disaccharide biosynthetic process [inference]

lactose biosynthetic process

lipid metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

cell population proliferation [inference]

epithelial cell proliferation

cellular developmental process [inference]

cell development [inference]

epithelial cell development

cell motility [inference]

cell migration [inference]

leukocyte migration [inference]

mononuclear cell migration [inference]

macrophage migration

myeloid leukocyte migration [inference]

macrophage migration

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

external encapsulating structure organization [inference]

extracellular matrix organization

reproductive process [inference]

developmental process involved in reproduction [inference]

development of secondary sexual characteristics

multicellular organismal reproductive process [inference]

penetration of zona pellucida

multicellular organismal process [inference]

multi-multicellular organism process [inference]

penetration of zona pellucida

developmental process [inference]

developmental process involved in reproduction [inference]

development of secondary sexual characteristics

anatomical structure formation involved in morphogenesis [inference]

angiogenesis [inference]

angiogenesis involved in wound healing

anatomical structure development [inference]

cell development [inference]

epithelial cell development

cellular developmental process [inference]

cell development [inference]

epithelial cell development

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

acute inflammatory response

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation involved in wound healing

positive regulation of programmed cell death [inference]

positive regulation of apoptotic process

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

regulation of cellular process [inference]

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation involved in wound healing

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation involved in wound healing

negative regulation of epithelial cell proliferation

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

positive regulation of apoptotic process

positive regulation of programmed cell death [inference]

positive regulation of apoptotic process

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation involved in wound healing

positive regulation of programmed cell death [inference]

positive regulation of apoptotic process

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

regulation of reproductive process [inference]

regulation of acrosome reaction

regulation of biological quality [inference]

regulation of circulating fibrinogen levels [inference]

positive regulation of circulating fibrinogen levels

Displaying entries **1 - 5** of 22 in total

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GO Term	Evidence Code	Reference
Golgi trans cisterna	IDA	PMID
Golgi membrane	NAS	PMID
Golgi membrane	TAS	Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome
Golgi membrane	IEA	GO_REF
obsolete extracellular space

GO Hierarchy

cellular component

protein-containing complex

cellular anatomical structure [inference]

membrane

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane

azurophil granule membrane

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane [inference]

azurophil granule membrane

secretory granule membrane

azurophil granule membrane

plasma membrane region [inference]

basolateral plasma membrane

cell projection membrane [inference]

brush border membrane

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

desmosome

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

Golgi cisterna [inference]

Golgi trans cisterna

cell projection [inference]

plasma membrane bounded cell projection [inference]

actin-based cell projection [inference]

filopodium

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

side of membrane [inference]

external side of plasma membrane

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	Reference
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	EXP	PMID PMID PMID
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	TAS	Reactome Reactome Reactome Reactome
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	PMID PMID PMID
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IMP	PMID
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IBA	GO_REF

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-galactosyltransferase activity

hexosyltransferase activity [inference]

galactosyltransferase activity

UDP-galactosyltransferase activity

binding [inference]

protein binding [inference]

cytoskeletal protein binding [inference]

tubulin binding [inference]

identical protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 10** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
57			G49108TO	GlyGen
58		30459171	G43417UB	GlyGen
64			G49108TO	GlyGen
66		30459171	G43417UB G49108TO	GlyGen
79		30459171	G43417UB	GlyGen
112		34725712 38665916 39531497	G49108TO	The O-GlcNAc Database
113	N-linked (GlcNAc...) asparagine			UniProt GlyGen
115		23584533 30459171	G43417UB G57321FI	GlyGen
122		25813380	G57321FI	GlyGen
123		25813380	G57321FI	GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 8** entries
Pathway Name	Organism
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	Homo sapiens
Defective B4GALT1 causes CDG-2d	Homo sapiens
Interaction With Cumulus Cells And The Zona Pellucida	Homo sapiens
Keratan sulfate biosynthesis	Homo sapiens
Lactose synthesis	Homo sapiens
N-Glycan antennae elongation	Homo sapiens
Neutrophil degranulation	Homo sapiens
Pre-NOTCH Processing in Golgi	Homo sapiens

Human Protein Atlas

ENSG00000086062

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0070256	congenital disorder of glycosylation type IId	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Summary

External Links

Annotation

International Collaboration

Acknowledgements