help  | about  | cite  | software

Gene : B4GALT1 Homo sapiens

Name  ? beta-1,4-galactosyltransferase 1 Cytological Location  9p21.1
Brief Description  beta-1,4-galactosyltransferase 1
Description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc003zsg.3,
  • GGTB2,
  • B4GALT1,
  • beta4Gal-T1,
  • GTB,
  • GGTB2,
  • UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1,
  • CDG2D,
  • beta4Gal-T1,
  • NM_001497,
  • X14085,
  • OTTHUMG00000019764,
  • B4GAL-T1,
  • GT1,
  • HGNC:924
  • identifiers:
  • 2683,
  • ENSG00000086062,
  • B4GALT1

Genome feature

Region: gene ? Length: 56718  
Location: 9:33110641-33167358 reverse strand Cyto location: 9p21.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

20 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results