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Aliases for GBGT1 Gene

Aliases for GBGT1 Gene

  • Globoside Alpha-1,3-N-Acetylgalactosaminyltransferase 1 (FORS Blood Group) 2 3
  • Globoside Alpha-1,3-N-Acetylgalactosaminyltransferase 1 3 5
  • Forssman Glycolipid Synthase-Like Protein 3 4
  • Forssman Glycolipid Synthetase (FS) 2 3
  • Forssman Blood Group 2 3
  • Forssman Synthetase 2
  • EC 2.4.1.- 4
  • A3GALNT 3
  • UNQ2513 3
  • FS 3

External Ids for GBGT1 Gene

Previous GeneCards Identifiers for GBGT1 Gene

  • GC09M131305
  • GC09M133057
  • GC09M135018
  • GC09M136028
  • GC09M105521

Summaries for GBGT1 Gene

Entrez Gene Summary for GBGT1 Gene

  • 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]

GeneCards Summary for GBGT1 Gene

GBGT1 (Globoside Alpha-1,3-N-Acetylgalactosaminyltransferase 1 (FORS Blood Group)) is a Protein Coding gene. Among its related pathways are Globo Sphingolipid Metabolism and Metabolism. GO annotations related to this gene include transferase activity, transferring hexosyl groups and globoside alpha-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is ABO.

UniProtKB/Swiss-Prot for GBGT1 Gene

  • Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.

Gene Wiki entry for GBGT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBGT1 Gene

Genomics for GBGT1 Gene

Regulatory Elements for GBGT1 Gene

Enhancers for GBGT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G133112 2.2 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +35.0 34973 33.8 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 RALGDS TTF1 TSC1 GTF3C4 LINC00094 GBGT1 REXO4 EEF1A1P5 SLC2A6 SURF6
GH09G133367 1.5 Ensembl ENCODE dbSUPER 10.7 -206.4 -206430 6.0 YY1 TCF12 ZNF121 ZNF766 GATA2 REST ZNF488 MBD2 SMARCA4 GLIS1 SURF6 SURF1 ADAMTS13 MED22 RPL7A SNORD24 SNORD36B ENSG00000201451 ENSG00000230064 GBGT1
GH09G133160 1.4 Ensembl ENCODE dbSUPER 5.3 +2.8 2766 1.3 HDAC1 CBX3 ARNT FEZF1 RAD21 RFX5 ELK1 SCRT2 ZNF143 DEK GBGT1 RALGDS
GH09G133163 0.9 ENCODE 5.9 -0.4 -386 2.4 HDAC1 TBP PKNOX1 CBX3 RB1 ZBTB40 EGR2 CEBPB GATAD2B MBD2 GBGT1 LOC101928193
GH09G132981 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +179.1 179138 5.8 PKNOX1 ATF1 ARNT TCF12 ZNF766 GLIS2 GATA2 FOS KDM4B ZNF263 GFI1B GBGT1 GC09P132965 GC09P133055 GC09P133074 GC09P133086 GC09P133087
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GBGT1 on UCSC Golden Path with GeneCards custom track

Promoters for GBGT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242551 145 801 HDAC1 TBP PKNOX1 CBX3 RB1 ZBTB40 CEBPB GATAD2B MBD2 SP1

Genomic Location for GBGT1 Gene

Chromosome:
9
Start:
133,152,948 bp from pter
End:
133,163,945 bp from pter
Size:
10,998 bases
Orientation:
Minus strand

Genomic View for GBGT1 Gene

Genes around GBGT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBGT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBGT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBGT1 Gene

Proteins for GBGT1 Gene

  • Protein details for GBGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5D6-GBGT1_HUMAN
    Recommended name:
    Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
    Protein Accession:
    Q8N5D6
    Secondary Accessions:
    • A8K633
    • B2RA95
    • B7Z8S5
    • Q45F07
    • Q5T7U9
    • Q5T7V1
    • Q8N2K4
    • Q9UKI5

    Protein attributes for GBGT1 Gene

    Size:
    347 amino acids
    Molecular mass:
    40127 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GBGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBGT1 Gene

Post-translational modifications for GBGT1 Gene

  • Glycosylation at Asn108
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GBGT1 Gene

Domains & Families for GBGT1 Gene

Protein Domains for GBGT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5D6

UniProtKB/Swiss-Prot:

GBGT1_HUMAN :
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).
  • Belongs to the glycosyltransferase 6 family.
Domain:
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).
Family:
  • Belongs to the glycosyltransferase 6 family.
genes like me logo Genes that share domains with GBGT1: view

Function for GBGT1 Gene

Molecular function for GBGT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.

Enzyme Numbers (IUBMB) for GBGT1 Gene

Gene Ontology (GO) - Molecular Function for GBGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0047277 globoside alpha-N-acetylgalactosaminyltransferase activity IBA --
genes like me logo Genes that share ontologies with GBGT1: view
genes like me logo Genes that share phenotypes with GBGT1: view

Animal Models for GBGT1 Gene

MGI Knock Outs for GBGT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GBGT1 Gene

Localization for GBGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBGT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBGT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for GBGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA --
genes like me logo Genes that share ontologies with GBGT1: view

Pathways & Interactions for GBGT1 Gene

genes like me logo Genes that share pathways with GBGT1: view

Pathways by source for GBGT1 Gene

1 BioSystems pathway for GBGT1 Gene

UniProtKB/Swiss-Prot Q8N5D6-GBGT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GBGT1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000361110%0d%0a9606.ENSP00000286955%0d%0a9606.ENSP00000305603%0d%0a9606.ENSP00000351602%0d%0a9606.ENSP00000302599%0d%0a9606.ENSP00000252675%0d%0a
Selected Interacting proteins: Q8N5D6-GBGT1_HUMAN ENSP00000361110 for GBGT1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for GBGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0009247 glycolipid biosynthetic process TAS 10506200
GO:0030259 lipid glycosylation IBA --
genes like me logo Genes that share ontologies with GBGT1: view

No data available for SIGNOR curated interactions for GBGT1 Gene

Drugs & Compounds for GBGT1 Gene

(4) Drugs for GBGT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(462) Additional Compounds for GBGT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with GBGT1: view

Transcripts for GBGT1 Gene

Unigene Clusters for GBGT1 Gene

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GBGT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: -
SP8:

Relevant External Links for GBGT1 Gene

GeneLoc Exon Structure for
GBGT1
ECgene alternative splicing isoforms for
GBGT1

Expression for GBGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GBGT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GBGT1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GBGT1 Gene



Protein tissue co-expression partners for GBGT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GBGT1 Gene:

GBGT1

SOURCE GeneReport for Unigene cluster for GBGT1 Gene:

Hs.495419

mRNA Expression by UniProt/SwissProt for GBGT1 Gene:

Q8N5D6-GBGT1_HUMAN
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.

Evidence on tissue expression from TISSUES for GBGT1 Gene

  • Nervous system(4.4)
  • Pancreas(4.2)
  • Adrenal gland(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with GBGT1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBGT1 Gene

Orthologs for GBGT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GBGT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBGT1 34 35
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia GBGT1 34 35
  • 86.65 (n)
cow
(Bos Taurus)
Mammalia GBGT1 34 35
  • 84.96 (n)
mouse
(Mus musculus)
Mammalia Gbgt1 34 16 35
  • 80.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GBGT1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBGT1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBGT1 34 35
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii gbgt1l4 34 35
  • 54.77 (n)
GBGT1 (9 of 10) 35
  • 51 (a)
OneToMany
GBGT1 (7 of 10) 35
  • 50 (a)
OneToMany
abo 35
  • 49 (a)
OneToMany
GBGT1 (1 of 10) 35
  • 48 (a)
OneToMany
GBGT1 (2 of 10) 35
  • 47 (a)
OneToMany
gbgt1l2 35
  • 47 (a)
OneToMany
GBGT1 (8 of 10) 35
  • 45 (a)
OneToMany
gbgt1l3 35
  • 44 (a)
OneToMany
gbgt1l1 35
  • 43 (a)
OneToMany
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2167 34
Species where no ortholog for GBGT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GBGT1 Gene

ENSEMBL:
Gene Tree for GBGT1 (if available)
TreeFam:
Gene Tree for GBGT1 (if available)

Paralogs for GBGT1 Gene

Paralogs for GBGT1 Gene

genes like me logo Genes that share paralogs with GBGT1: view

Variants for GBGT1 Gene

Sequence variations from dbSNP and Humsavar for GBGT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000260653 -- 133,156,533(+) CGGGC(A/G)CCTGT intron-variant
rs1000296669 -- 133,152,567(+) CCACT(G/T)CCTGA downstream-variant-500B
rs1000333933 -- 133,156,410(+) TAATC(C/T)CAGCA intron-variant
rs1000357839 -- 133,157,724(+) CTCTG(C/T)CACTA intron-variant
rs1000412334 -- 133,152,904(+) AACTC(A/G)GTCTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GBGT1 Gene

Variant ID Type Subtype PubMed ID
dgv12928n54 CNV loss 21841781
dgv12929n54 CNV loss 21841781
dgv12930n54 CNV gain 21841781
dgv12931n54 CNV loss 21841781
dgv951n27 CNV gain 19166990
esv2739138 CNV deletion 23290073
nsv508565 CNV deletion 20534489
nsv831744 CNV gain+loss 17160897
nsv951797 CNV deletion 24416366

Variation tolerance for GBGT1 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GBGT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBGT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBGT1 Gene

Disorders for GBGT1 Gene

Relevant External Links for GBGT1

Genetic Association Database (GAD)
GBGT1
Human Genome Epidemiology (HuGE) Navigator
GBGT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBGT1

No disorders were found for GBGT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GBGT1 Gene

Publications for GBGT1 Gene

  1. Characterization of the human Forssman synthetase gene: an evolving association between glycolipid synthesis and host-microbial interactions. (PMID: 10506200) Xu H. … Haslam D.B. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for GBGT1 Gene

Sources for GBGT1 Gene

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