Homo sapiens Gene: B4GALT5
Summary
InnateDB Gene IDBG-80555.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B4GALT5
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5
Synonyms B4Gal-T5; BETA4-GALT-IV; beta4Gal-T5; beta4GalT-V; gt-V;
Species Homo sapiens
Ensembl Gene ENSG00000158470
Encoded Proteins
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:49632945-49713878
Strand Reverse strand
Band q13.13
Transcripts
ENST00000371711 ENSP00000360776
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008378 galactosyltransferase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0016266 O-glycan processing
GO:0018146 keratan sulfate biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
N-Glycan antennae elongation pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
Keratan sulfate biosynthesis pathway
MPS IIID - Sanfilippo syndrome D pathway
N-glycan antennae elongation in the medial/trans-Golgi pathway
Defective SLC26A2 causes chondrodysplasias pathway
O-linked glycosylation of mucins pathway
Asparagine N-linked glycosylation pathway
O-linked glycosylation pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type 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
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
Transport to the Golgi and subsequent modification pathway
KEGG
Mucin type O-Glycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43286
TrEMBL Q7LFU8 U6C5D7
UniProt Splice Variant
Entrez Gene 9334
UniGene Hs.370487
RefSeq NM_004776
HUGO HGNC:928
OMIM 604016
CCDS CCDS13420
HPRD 06807
IMGT
EMBL AB004550 AB067772 AB871482 AF038663 AL035683 AL162615 BC074821 BC074873 BC104987 BC112265 CH471077
GenPept AAC39736 AAH74821 AAH74873 AAI04988 AAI12266 BAA25006 BAC07182 BAO04294 CAI18968 CAI19038 EAW75653 EAW75654
RNA Seq Atlas 9334