Endometriosis Knowledgebase

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Gene id

26301

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GBGT1 Gene UCSC Ensembl

Aliases

A3GALNT, FS, UNQ2513

Gene name

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

Alternate names

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1, Forssman blood group, Forssman glycolipid synthetase (FS), forssman glycolipid synthase-like protein,

Gene location

9q34.2 (133163944: 133152947) Exons: 7 NC_000009.12

Gene summary(Entrez)

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 protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

OMIM

606074

Protein Summary

Protein general information

Q8N5D6

Name: Globoside alpha 1,3 N acetylgalactosaminyltransferase 1 (EC 2.4.1. ) (Forssman glycolipid synthase like protein)

Length: 347 Mass: 40,127

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. {ECO

Sequence

MHRRRLALGLGFCLLAGTSLSVLWVYLENWLPVSYVPYYLPCPEIFNMKLHYKREKPLQPVVWSQYPQPKLLEHR
PTQLLTLTPWLAPIVSEGTFNPELLQHIYQPLNLTIGVTVFAVGKYTHFIQSFLESAEEFFMRGYRVHYYIFTDN
PAAVPGVPLGPHRLLSSIPIQGHSHWEETSMRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPETLGDLVA
AIHPSYYAVPRQQFPYERRRVSTAFVADSEGDFYYGGAVFGGQVARVYEFTRGCHMAILADKANGIMAAWREESH
LNRHFISNKPSKVLSPEYLWDDRKPQPPSLKLIRFSTLDKDISCLRS

Structural information

Interpro:	IPR005076 IPR029044
Pfam:	PF03414
STRING:	ENSP00000361110;

Other Databases

GeneCards: GBGT1; Malacards: GBGT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0006486	protein glycosylation	IEA	biological_process
GO:0009247	glycolipid biosynthetic p rocess	TAS	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0047277	globoside alpha-N-acetylg alactosaminyltransferase activity	IEA	molecular_function
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005975	carbohydrate metabolic pr ocess	IEA	biological_process
GO:0006486	protein glycosylation	IEA	biological_process
GO:0009247	glycolipid biosynthetic p rocess	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016740	transferase activity	IEA	molecular_function
GO:0016757	transferase activity, tra nsferring glycosyl groups	IEA	molecular_function
GO:0016758	transferase activity, tra nsferring hexosyl groups	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0047277	globoside alpha-N-acetylg alactosaminyltransferase activity	IEA	molecular_function
GO:0009247	glycolipid biosynthetic p rocess	TAS	biological_process

KEGG pathways

hsa01100 Metabolic pathways
hsa00603 Glycosphingolipid biosynthesis - globo and isoglobo series

Diseases

Associated diseases	References
Endometriosis (ovarian)	PMID: 25298284
Ovarian endometriosis	PMID: 25298284
Ovarian endometriosis	INFBASE25298284

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25298284	Endometrio sis (ovari an)			50 (30 EMS-asso ciated ovarian carcinoma (18 O varian endometr ioid cancer, 12 ovarian clear cell cancer), 2 0 normal endome trial specimens )		RASSF2 RUNX3 GSTZ1 CYP2A GBGT1 NDUFS1 SPOCK2 ADAM22 and TRIM36	Show abstract