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B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 [Homo sapiens (human)]

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_007255 Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
XM_005265805 PREDICTED: Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_006714815 PREDICTED: Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006714816 PREDICTED: Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol B4GALT7
Entrez Gene ID 11285
Full Name xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Synonyms EDSP1, XGALT1, XGPT1
General protein information
Preferred Names
beta-1,4-galactosyltransferase 7
beta-1,4-galactosyltransferase 7
beta-1,4-GalTase 7
galactosyltransferase I
beta-1,4-galactosyltransferase VII
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
Gene Type protein-coding
Organism Homo sapiens (human)



Summary This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].

MIM: 604327

Ehlers-Danlos syndrome, progeroid form, 130070 (3)

mRNA Protein Product Sequence Price Select
NM_007255, 262231741 NP_009186, 6005952 beta-1,4-galactosyltransferase 7 ORF Sequence $269.00
XM_005265805, 530380830 XP_005265862, 530380831 beta-1,4-galactosyltransferase 7 isoform X1 ORF Sequence $250.00
XM_006714815, 578810991 XP_006714878, 578810992 beta-1,4-galactosyltransferase 7 isoform X2 ORF Sequence $400.00
XM_006714816, 578810993 XP_006714879, 578810994 beta-1,4-galactosyltransferase 7 isoform X3 ORF Sequence $250.00
hsa00532Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa_M00057Glycosaminoglycan biosynthesis, linkage tetrasaccharide
HUMAN_PWY-6569chondroitin sulfate biosynthesis
HUMAN_PWY-6564heparan sulfate biosynthesis
HUMAN_PWY-6557glycoaminoglycan-protein linkage region biosynthesis
HUMAN_PWY-6571dermatan sulfate biosynthesis
META_PWY-6557glycoaminoglycan-protein linkage region biosynthesis
META_PWY-6571dermatan sulfate biosynthesis
META_PWY-6564heparan sulfate biosynthesis
META_PWY-6569chondroitin sulfate biosynthesis
REACT_474Metabolism of carbohydrates
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147825MPS IV - Morquio syndrome A
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147739MPS IX - Natowicz syndrome
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147734MPS II - Hunter syndrome
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147759MPS VII - Sly syndrome
REACT_147798MPS IV - Morquio syndrome B
REACT_147857MPS I - Hurler syndrome
REACT_121315Glycosaminoglycan metabolism
REACT_121408A tetrasaccharide linker sequence is required for GAG synthesis
REACT_121314Heparan sulfate/heparin (HS-GAG) metabolism
REACT_121206Chondroitin sulfate/dermatan sulfate metabolism
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)B4GALT7NP_009186.1
Pan troglodytes (chimpanzee)B4GALT7NP_001035053.1
Macaca mulatta (Rhesus monkey)B4GALT7XP_001093051.1
Canis lupus familiaris (dog)B4GALT7XP_005626410.1
Mus musculus (house mouse)B4galt7NP_666157.1
Rattus norvegicus (Norway rat)B4galt7NP_001026831.1
Gallus gallus (chicken)B4GALT7NP_001035000.1
Danio rerio (zebrafish)b4galt7NP_001003417.1
Drosophila melanogaster (fruit fly)beta4GalT7NP_651319.2
Caenorhabditis eleganssqv-3NP_499164.1
Xenopus (Silurana) tropicalis (western clawed frog)b4galt7NP_001120017.1
GO:0005975carbohydrate metabolic processTAS
GO:0006024glycosaminoglycan biosynthetic processIDA
GO:0006029proteoglycan metabolic processIMP
GO:0006464cellular protein modification processTAS
GO:0006487protein N-linked glycosylationIDA
GO:0030203glycosaminoglycan metabolic processTAS
GO:0030204chondroitin sulfate metabolic processTAS
GO:0043206extracellular fibril organizationIMP
GO:0044281small molecule metabolic processTAS
GO:0048147negative regulation of fibroblast proliferationIMP
GO:0000139Golgi membraneTAS
GO:0005794Golgi apparatusIDA
GO:0016021integral component of membraneIDA
GO:0032580Golgi cisterna membraneIEA
GO:0003831beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activityIDA
GO:0008378galactosyltransferase activityIDA
GO:0008378galactosyltransferase activityIMP
GO:0030145manganese ion bindingIDA
GO:0046525xylosylprotein 4-beta-galactosyltransferase activityIDA
GeneCards B4GALT7
UniProt B3KMT1, Q9UBV7
Vega OTTHUMG00000130851
MIM 604327
Ensembl ENSG00000027847
HGNC 930
HPRD 05060

GeneRIFs: Gene References Into Functions What's a GeneRIF?


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