Gene Gene information from NCBI Gene database.
Entrez ID 8708
Gene name Beta-1,3-galactosyltransferase 1
Gene symbol B3GALT1
Synonyms (NCBI Gene)
beta3Gal-T1
Chromosome 2
Chromosome location 2q24.3
Summary This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT029959 hsa-miR-26b-5p Microarray 19088304
MIRT812911 hsa-miR-1184 CLIP-seq
MIRT812912 hsa-miR-1205 CLIP-seq
MIRT812913 hsa-miR-1231 CLIP-seq
MIRT812914 hsa-miR-1252 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005794 Component Golgi apparatus IEA
GO:0006486 Process Protein glycosylation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603093 916 ENSG00000172318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5Z6
Protein name Beta-1,3-galactosyltransferase 1 (Beta-1,3-GalTase 1) (Beta3Gal-T1) (Beta3GalT1) (EC 2.4.1.86) (UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1)
Protein function Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycopr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01762 Galactosyl_T 92 283 Galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain and colon mucosa and to a lesser extent in colon adenocarcinoma cells. {ECO:0000269|PubMed:10356986, ECO:0000269|PubMed:9582303}.
Sequence
MASKVSCLYVLTVVCWASALWYLSITRPTSSYTGSKPFSHLTVARKNFTFGNIRTRPINP
HSFEFLINEPNKCEKNIPFLVILISTTHKEFDARQAIRETWGDENNFKGIKIATLFLLGK
NADPVLNQMVEQESQIFHDIIVEDFIDSYHNLTLKTLMGMRWVATFCSKAKYVMKTDSDI
FVNMDNLIYKLLKPSTKPRRRYFTGYVINGGPIRDVRSKWYMPRDLYPDSNYPPFCSGTG
YIFSADVAELIYKTSLHTRLLHLEDVYVGLCLRKLGIHPFQNS
GFNHWKMAYSLCRYRRV
ITVHQISPEEMHRIWNDMSSKKHLRC
Sequence length 326
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways
  Lewis blood group biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs193920868 RCV000149278
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Ovarian Epithelial Associate 33173439
Carcinoma Renal Cell Associate 36104680
Neoplasms Associate 36104680