Bos taurus Gene: B4GALT7 | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Gene | IDBG-645308.3 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | B4GALT7 | ||||||||||||||
Gene Name | beta-1,4-galactosyltransferase 7 | ||||||||||||||
Synonyms | |||||||||||||||
Species | Bos taurus | ||||||||||||||
Ensembl Gene | ENSBTAG00000001767 | ||||||||||||||
Encoded Proteins |
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
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Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000027847:
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] |
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Gene Information | |||||||||||||||
Type | Protein coding | ||||||||||||||
Genomic Location | Chromosome 7:40482365-40490836 | ||||||||||||||
Strand | Forward strand | ||||||||||||||
Band | |||||||||||||||
Transcripts |
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Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Pathway Predictions based on Human Orthology Data | |||||||||||||||
NETPATH | |||||||||||||||
REACTOME |
A tetrasaccharide linker sequence is required for GAG synthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
Glycosaminoglycan metabolism pathway
Disease pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
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KEGG |
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
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INOH | |||||||||||||||
PID NCI | |||||||||||||||
Cross-References | |||||||||||||||
SwissProt | |||||||||||||||
TrEMBL | D1H0P3 Q17QI0 | ||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | 507559 | ||||||||||||||
UniGene | Bt.106887 | ||||||||||||||
RefSeq | NM_001075321 | ||||||||||||||
HUGO | |||||||||||||||
OMIM | |||||||||||||||
CCDS | |||||||||||||||
HPRD | |||||||||||||||
IMGT | |||||||||||||||
EMBL | BC118346 DAAA02020059 FN568101 | ||||||||||||||
GenPept | AAI18347 CBH40222 | ||||||||||||||
RNA Seq Atlas | 507559 | ||||||||||||||