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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

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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

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

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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	10356986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33173439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36104680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Krause-Kivlin syndrome	Krause-Kivlin Syndrome	GENOMICS_ENGLAND_DG	16909395		★★★★★ ★☆☆☆☆ Found in Text Mining only

B3GALT1 (beta-1,3-galactosyltransferase 1)