GBGT1

GBGT1
Identifiers
Aliases	GBGT1 , A3GALNT, FS, UNQ2513, globoside alpha-1,3-N-acetylgalactosaminyltransferase 1, globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
External IDs	OMIM: 606074 MGI: 2449143 HomoloGene: 110677 GeneCards: GBGT1
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q34.2 Start 133,152,948 bp [1] End 133,163,933 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 A3 Start 28,386,903 bp [2] End 28,395,427 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of stomach monocyte blood right adrenal gland left adrenal gland appendix fundus germinal epithelium placenta upper lobe of left lung Top expressed in esophagus morula spermatocyte spermatid lip duodenum superior frontal gyrus stomach lens submandibular gland More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity hexosyltransferase activity metal ion binding glycosyltransferase activity globoside alpha-N-acetylgalactosaminyltransferase activity Cellular component integral component of membrane Golgi membrane membrane Golgi apparatus vesicle Biological process glycolipid biosynthetic process protein glycosylation lipid glycosylation carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26301 227671 Ensembl ENSG00000148288 ENSMUSG00000026829 UniProt Q8N5D6 Q8VI38 RefSeq (mRNA) NM_021996 NM_001282629 NM_001282632 NM_001288572 NM_001288573 NM_139197 RefSeq (protein) NP_001269558 NP_001269561 NP_001275501 NP_001275502 NP_068836 NP_631936 Location (UCSC) Chr 9: 133.15 – 133.16 Mb Chr 2: 28.39 – 28.4 Mb PubMed search [3] [4]
Wikidata
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Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the GBGT1 gene. ^{[5] [6] [7]}

This gene encodes a member of the histo-blood group ABO gene family that encodes glycosyltransferases with related but distinct substrate specificity. This protein plays a role in synthesizing Forssman glycolipid (FG), a member of the globoseries glycolipid family. Human cells do not normally produce FG but produce the precursor glycolipids globotriaosylceramide and globoside. This protein may be involved in the tropism and binding of pathogenic organisms. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000148288 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026829 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Xu H, Storch T, Yu M, Elliott SP, Haslam DB (October 1999). "Characterization of the human Forssman synthetase gene. An evolving association between glycolipid synthesis and host-microbial interactions". The Journal of Biological Chemistry. 274 (41): 29390–8. doi: 10.1074/jbc.274.41.29390 . PMID   10506200.
6. Haslam DB, Baenziger JU (October 1996). "Expression cloning of Forssman glycolipid synthetase: a novel member of the histo-blood group ABO gene family". Proceedings of the National Academy of Sciences of the United States of America. 93 (20): 10697–702. Bibcode:1996PNAS...9310697H. doi: 10.1073/pnas.93.20.10697 . PMC   38217 . PMID   8855242.
7. "Entrez Gene: GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1".

Further reading

• Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, et al. (June 2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Molecular Vision. 8: 205–20. PMID   12107410.