Gene Gene information from NCBI Gene database.
Entrez ID 10317
Gene name Beta-1,3-galactosyltransferase 5
Gene symbol B3GALT5
Synonyms (NCBI Gene)
B3GalT-VB3GalTxB3T5GLCT5beta-13-GalTase 5beta-3-Gx-T5beta3Gal-T5
Chromosome 21
Chromosome location 21q22.2
Summary This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alter
miRNA miRNA information provided by mirtarbase database.
966
miRTarBase ID miRNA Experiments Reference
MIRT615471 hsa-miR-329-3p HITS-CLIP 23313552
MIRT615470 hsa-miR-362-3p HITS-CLIP 23313552
MIRT610222 hsa-miR-603 HITS-CLIP 23313552
MIRT610221 hsa-miR-622 HITS-CLIP 23313552
MIRT527913 hsa-miR-4682 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum HDA 16780588
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604066 920 ENSG00000183778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2C3
Protein name Beta-1,3-galactosyltransferase 5 (Beta-1,3-GalTase 5) (Beta3Gal-T5) (Beta3GalT5) (b3Gal-T5) (EC 2.4.1.-) (Beta-3-Gx-T5) (UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5) (UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5)
Protein function Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor. {ECO:0000269|PubMed:10406968, ECO:0000269|PubMed:1083746
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01762 Galactosyl_T 71 261 Galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in stomach, jejunum, colon, pancreas, small intestine, testis and gastrointestinal and pancreatic cancer cell lines. Hardly detected in lung, liver, adrenal gland and peripheral blood leukocytes. {ECO:0000269|PubMed:10406968}
Sequence
Sequence length 310
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosphingolipid biosynthesis - lacto and neolacto series
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
  Lewis blood group biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11058588
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30808745 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28883415, 36495345 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 27535614
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31116002 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28883415
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 14555842, 27535614
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 27535614
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 14555842, 27535614
★☆☆☆☆
Found in Text Mining only