GBGT1 (globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group))

Gene

• Entrez ID: 26301
• Gene name: Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
• Gene symbol: GBGT1
• Synonyms (NCBI Gene): A3GALNT, FS, UNQ2513
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this p

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1013843	hsa-miR-1273g	CLIP-seq
MIRT1013844	hsa-miR-221	CLIP-seq
MIRT1013845	hsa-miR-222	CLIP-seq
MIRT1013846	hsa-miR-3689a-3p	CLIP-seq
MIRT1013847	hsa-miR-3689c	CLIP-seq
MIRT1013848	hsa-miR-3913-3p	CLIP-seq
MIRT1013849	hsa-miR-4425	CLIP-seq
MIRT1013850	hsa-miR-4666-5p	CLIP-seq
MIRT2233743	hsa-miR-339-5p	CLIP-seq
MIRT2233744	hsa-miR-4421	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0009247	Process	Glycolipid biosynthetic process	TAS	10506200
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0031982	Component	Vesicle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0047277	Function	Globoside alpha-N-acetylgalactosaminyltransferase activity	IBA
GO:0047277	Function	Globoside alpha-N-acetylgalactosaminyltransferase activity	IEA

Other IDs

• MIM: 606074
• HGNC: 20460
• e!Ensembl: ENSG00000148288

Protein

• UniProt ID: Q8N5D6
• Protein name: Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (EC 2.4.1.-) (Forssman glycolipid synthase-like protein)
• Protein function: Has lost the ability to synthesize Forssman glycolipid antigen (FORS1/FG) (PubMed:10506200). Might have acquired an alternative function in glycosphingolipid metabolism, but it remains to be established. It appears to have drifted more slowly th
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03414	Glyco_transf_6	32 → 347	Glycosyltransferase family 6	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, ovary and peripheral blood leukocyte, whereas it is weakly expressed in liver, thymus, and testis (PubMed:10506200). Expressed in bone marrow erythroid cells (PubMed:23255552). {
• Sequence:

  MHRRRLALGLGFCLLAGTSLSVLWVYLENWLPVSYVPYYLPCPEIFNMKLHYKREKPLQP
  VVWSQYPQPKLLEHRPTQLLTLTPWLAPIVSEGTFNPELLQHIYQPLNLTIGVTVFAVGK
  YTHFIQSFLESAEEFFMRGYRVHYYIFTDNPAAVPGVPLGPHRLLSSIPIQGHSHWEETS
  MRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPETLGDLVAAIHPSYYAVPRQQFP
  YERRRVSTAFVADSEGDFYYGGAVFGGQVARVYEFTRGCHMAILADKANGIMAAWREESH
  LNRHFISNKPSKVLSPEYLWDDRKPQPPSLKLIRFSTLDKDISCLRS

• Sequence length: 347

Pathways

KEGG:

Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Neoplasms	Associate	25294702	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	25298284	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	25294702	★☆☆☆☆ Found in Text Mining only