B4GALT1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Protein B4GALT1 PDB 1nf5.png
PDB rendering based on 1nf5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols B4GALT1 ; B4GAL-T1; CDG2D; GGTB2; GT1; GTB; beta4Gal-T1
External IDs OMIM137060 MGI95705 HomoloGene20378 ChEMBL: 4384 GeneCards: B4GALT1 Gene
EC number 2.4.1.22, 2.4.1.38, 2.4.1.90
RNA expression pattern
PBB GE B4GALT1 201883 s at tn.png
PBB GE B4GALT1 201882 x at tn.png
PBB GE B4GALT1 211631 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2683 14595
Ensembl ENSG00000086062 ENSMUSG00000028413
UniProt P15291 P15535
RefSeq (mRNA) NM_001497 NM_022305
RefSeq (protein) NP_001488 NP_071641
Location (UCSC) Chr 9:
33.1 – 33.17 Mb
Chr 4:
40.8 – 40.85 Mb
PubMed search [1] [2]

Beta-1,4-galactosyltransferase 1 is an enzyme that in humans is encoded by the B4GALT1 gene.[1][2]

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. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase.[2]

References[edit]

  1. ^ Lo NW, Shaper JH, Pevsner J, Shaper NL (Aug 1998). "The expanding beta 4-galactosyltransferase gene family: messages from the databanks". Glycobiology 8 (5): 517–26. doi:10.1093/glycob/8.5.517. PMID 9597550. 
  2. ^ a b "Entrez Gene: B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1". 

Further reading[edit]

External links[edit]