Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8708
Gene name Gene Name - the full gene name approved by the HGNC.	Beta-1,3-galactosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	B3GALT1
Synonyms (NCBI Gene) Gene synonyms aliases	beta3Gal-T1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
MIRT812915	hsa-miR-1299	CLIP-seq
MIRT812916	hsa-miR-3120-5p	CLIP-seq
MIRT812917	hsa-miR-3158-5p	CLIP-seq
MIRT812918	hsa-miR-3202	CLIP-seq
MIRT812919	hsa-miR-323-3p	CLIP-seq
MIRT812920	hsa-miR-3665	CLIP-seq
MIRT812921	hsa-miR-4318	CLIP-seq
MIRT812922	hsa-miR-4328	CLIP-seq
MIRT812923	hsa-miR-4418	CLIP-seq
MIRT812924	hsa-miR-4533	CLIP-seq
MIRT812925	hsa-miR-4670-5p	CLIP-seq
MIRT812926	hsa-miR-4677-3p	CLIP-seq
MIRT812927	hsa-miR-4691-3p	CLIP-seq
MIRT812928	hsa-miR-4693-5p	CLIP-seq
MIRT812929	hsa-miR-4729	CLIP-seq
MIRT812930	hsa-miR-509-3-5p	CLIP-seq
MIRT812931	hsa-miR-509-5p	CLIP-seq
MIRT812932	hsa-miR-657	CLIP-seq
MIRT812933	hsa-miR-875-3p	CLIP-seq
MIRT812934	hsa-miR-892a	CLIP-seq
MIRT812911	hsa-miR-1184	CLIP-seq
MIRT812912	hsa-miR-1205	CLIP-seq
MIRT812917	hsa-miR-3158-5p	CLIP-seq
MIRT812923	hsa-miR-4418	CLIP-seq
MIRT812927	hsa-miR-4691-3p	CLIP-seq
MIRT812930	hsa-miR-509-3-5p	CLIP-seq
MIRT812931	hsa-miR-509-5p	CLIP-seq
MIRT812911	hsa-miR-1184	CLIP-seq
MIRT812912	hsa-miR-1205	CLIP-seq
MIRT812917	hsa-miR-3158-5p	CLIP-seq
MIRT812923	hsa-miR-4418	CLIP-seq
MIRT812927	hsa-miR-4691-3p	CLIP-seq
MIRT812930	hsa-miR-509-3-5p	CLIP-seq
MIRT812931	hsa-miR-509-5p	CLIP-seq
MIRT1940343	hsa-miR-511	CLIP-seq
MIRT2179247	hsa-miR-3165	CLIP-seq
MIRT1940343	hsa-miR-511	CLIP-seq
MIRT2179248	hsa-miR-518a-5p	CLIP-seq
MIRT2179249	hsa-miR-527	CLIP-seq
MIRT2179250	hsa-miR-548u	CLIP-seq

Show/Hide all(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
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006682	Process	Galactosylceramide biosynthetic process	IDA	9582303
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IBA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IDA	9582303
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IEA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS
GO:0009312	Process	Oligosaccharide biosynthetic process	IDA	9582303
GO:0009312	Process	Oligosaccharide biosynthetic process	IEA
GO:0009312	Process	Oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9582303
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
603093	916	ENSG00000172318

Protein

UniProt ID

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
YIFSADVAELIYKTSLHTRLLHLEDVYVGLCLRKLGIHPFQNSGFNHWKMAYSLCRYRRV
ITVHQISPEEMHRIWNDMSSKKHLRC

Sequence length

326

Interactions

View interactions

	KEGG		Reactome
	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways		Lewis blood group biosynthesis

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes with ketoacidosis (PheCode 250.21)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Ovarian Epithelial	Associate	33173439
Carcinoma Renal Cell	Associate	36104680
Neoplasms	Associate	36104680

B3GALT1 (beta-1,3-galactosyltransferase 1)