B4GALT7

GENE INFORMATION

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Gene name

B4GALT7 (HGNC Symbol)

Synonyms

beta4Gal-T7, XGALT-1

Description

xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (HGNC Symbol)

Entrez gene 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]

Chromosome

5 (Chromosome progress)

Cytoband

q35.3

Chromosome location (bp)

177027101 - 177037348

Ensembl

ENSG00000027847 (version 73.37)

Entrez gene

11285

UniProt

Q9UBV7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBV7

Antibodypedia

B4GALT7 antibodies
 

PROTEIN VIEW

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B4GALT7-001
 
B4GALT7-006
 
B4GALT7-007
 
B4GALT7-008
 
B4GALT7-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

B4GALT7-001 ENSP00000029410
ENST00000029410
Q9UBV7
Show all »
Show » Show » 327 37.4 No 0
B4GALT7-006 ENSP00000423438
ENST00000510761
D6RA33
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Show » 42 5.1 No 0
B4GALT7-007 ENSP00000420886
ENST00000505468
D6RDJ8
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Show » 36 4.5 No 0
B4GALT7-008 ENSP00000423868
ENST00000507061
H0Y9D6
Show all »
Show » 77 9.2 No 0
B4GALT7-009 ENSP00000425591
ENST00000505433
D6RJI5
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Show » Show » 170 19.3 No 0