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beta-1,4-galactosyltransferase 7

Summary

Gene Symbol

B4GALT7

Aliases

XGALT-1
beta4Gal-T7
galactosyltransferase I

Organism

Homo sapiens (human)

External Links

NCBI Gene

11285

GGDB ID

gg083

HGNC

930

mRNA

NM_007255

map

5q35.2-q35.3

Protein

NP_009186

OMIM

604327

KEGG Gene ID

hsa:11285

PubChem

11285

Alliance of Genome Resources

HGNC:930

Annotation

Keyword

3D-structure
Disease variant
Disulfide bond
Dwarfism
Ehlers-Danlos syndrome
Glycoprotein
Glycosyltransferase
Golgi apparatus
Manganese
Metal-binding
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9UBV7	Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7 UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7 UDP-galactose:beta-xylose beta-1,4-galactosyltransferase XGPT XGalT-1 Xylosylprotein 4-beta-galactosyltransferase Xylosylprotein beta-1,4-galactosyltransferase
B3KMT1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
protein N-linked glycosylation	IDA	24052259
proteoglycan biosynthetic process	IBA
carbohydrate metabolic process	IEA
supramolecular fiber organization	IMP	16583246
glycosaminoglycan metabolic process	TAS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process

protein glycosylation [inference]

protein N-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process

protein glycosylation [inference]

protein N-linked glycosylation

glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process

proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process

protein glycosylation [inference]

protein N-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

supramolecular fiber organization

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

regulation of cellular process [inference]

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

regulation of fibroblast proliferation [inference]

negative regulation of fibroblast proliferation

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

Displaying **all 4** entries
GO Term	Evidence Code	PMID
membrane	IDA	10438455
Golgi apparatus	IBA IDA	10506123
Golgi cisterna membrane	IEA
Golgi membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 5** entries
GO Term	Evidence Code	PMID
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	24052259
manganese ion binding	IDA	24052259
galactosyltransferase activity	IDA IMP	10506123 16583246
protein binding	IPI	25416956 32296183
xylosylprotein 4-beta-galactosyltransferase activity	IBA IDA TAS	10438455

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-galactosyltransferase activity [inference]

hexosyltransferase activity [inference]

galactosyltransferase activity

UDP-galactosyltransferase activity [inference]

catalytic activity, acting on a protein [inference]

catalytic activity, acting on a glycoprotein [inference]

xylosylprotein 4-beta-galactosyltransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000027847

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

GlycoGene Database (GGDB)

GGDB ID

gg083

Gene Symbol

B4GALT7

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
(not applicable)	G16579HJ	G78098IA	10473568

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
UDP-Gal	G16579HJ	G78098IA	10473568 10580128
(not applicable)	G16579HJ	G78098IA	10473568

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-Gal	G16579HJ	10473568
UDP-Gal	G71142DF	10473568
UDP-Gal	G61418DU	10473568
UDP-Gal	G49108TO	10473568

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	XP_344570	XM_344570
Drosophila melanogaster	NP_651319	NM_143062
Caenorhabditis elegans	NP_499164	NM_066763
Mus musculus	NP_666157	NM_146045

KEGG BRITE Database

Orthology

K00733

Name

xylosylprotein 4-beta-galactosyltransferase [EC:2.4.1.133]

References

10438455

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05926	2.4.1.133	G16579HJ	G78098IA

Rhea

RHEA:15297

UDP-α-D-galactose

H⁺ + UDP

Enzyme

2.4.1.133

PMID

Disease

Disease Ontology

Displaying entries **21 - 30** of 94 in total

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DO ID	Disease Name	Source
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II	DisGeNET
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome	DisGeNET
DOID:0060762	restrictive dermopathy	DisGeNET
DOID:0060764	autosomal recessive Robinow syndrome	DisGeNET
DOID:0060765	autosomal dominant Robinow syndrome 2	DisGeNET
DOID:0060766	autosomal dominant Robinow syndrome 1	DisGeNET
DOID:0060767	autosomal dominant Robinow syndrome 3	DisGeNET
DOID:0060862	mal de Meleda	DisGeNET
DOID:0070129	autosomal recessive cutis laxa type IID	DisGeNET
DOID:0070130	autosomal dominant cutis laxa 1	DisGeNET

The Human Phenotype Ontology

Displaying entries **61 - 70** of 74 in total

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HPO ID	HPO Term
HP:0004425	Flat forehead
HP:0005328	Progeroid facial appearance
HP:0005616	Accelerated skeletal maturation
HP:0006243	Phalangeal dislocation
HP:0006481	Abnormality of primary teeth
HP:0006487	Bowing of the long bones
HP:0007469	Palmoplantar cutis gyrata
HP:0009125	Lipodystrophy
HP:0010511	Long toe
HP:0011308	Slender toe

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:75496	Ehlers-Danlos syndrome, spondylodysplastic type
OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1

PubChem Disease

MedGen Diseases

Ehlers-Danlos syndrome, spondylodysplastic type, 1

OMIM Phenotypes

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1

KEGG Diseases

Ehlers-Danlos syndrome, spondylodysplastic type

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP006533
Gene Name: xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176382	WB:WBGene00005021
Drosophila melanogaster	42991	FB:FBgn0039258
Callorhinchus milii	103189468		CALMI41556
Latimeria chalumnae	102365042		LATCH00285
Danio rerio	445022	ZFIN:ZDB-GENE-040727-3	DANRE06539
Ictalurus punctatus	100528903		ICTPU34086
Electrophorus electricus	113573384		ELEEL13238
Salmo salar	106604202		SALSA123980
Salmo salar	106612238		SALSA138755
Salmo trutta	115167312		SALTR42767

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements