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Aliases for GBGT1 Gene

Aliases for GBGT1 Gene

  • Globoside Alpha-1,3-N-Acetylgalactosaminyltransferase 1 2 3
  • Forssman Glycolipid Synthase-Like Protein 3 4
  • Forssman Glycolipid Synthetase (FS) 2 3
  • FS 3 6
  • Forssman Synthetase 2
  • EC 2.4.1.- 4
  • A3GALNT 3
  • UNQ2513 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) is a Protein Coding gene. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include globoside alpha-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GLT6D1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBGT1 Gene

Genomics for GBGT1 Gene

Regulatory Elements for GBGT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GBGT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GBGT1 Gene at MOPED

Post-translational modifications for GBGT1 Gene

  • Glycosylation at Asn108
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GBGT1 Gene

Domains for GBGT1 Gene

Gene Families for GBGT1 Gene

HGNC:
  • GLT6 :Glycosyltransferase family 6 domain containing

Protein Domains for GBGT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5D6

UniProtKB/Swiss-Prot:

GBGT1_HUMAN :
  • Q8N5D6
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:0016758 transferase activity, transferring hexosyl groups --
GO:0046872 metal ion binding IEA --
GO:0047277 globoside alpha-N-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with GBGT1: view

Phenotypes for GBGT1 Gene

GenomeRNAi human phenotypes for GBGT1:
genes like me logo Genes that share phenotypes with GBGT1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GBGT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for GBGT1 Gene COMPARTMENTS Subcellular localization image for GBGT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1
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 --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GBGT1: view

Pathways for GBGT1 Gene

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

Pathways by source for GBGT1 Gene

UniProtKB/Swiss-Prot Q8N5D6-GBGT1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for GBGT1 Gene

Gene Ontology (GO) - Biological Process for GBGT1 Gene

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

Compounds for GBGT1 Gene

(523) HMDB Compounds for GBGT1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GBGT1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for GBGT1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 for GBGT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GBGT1 Gene

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.
genes like me logo Genes that share expressions with GBGT1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 98.75 (n)
  • 97.98 (a)
GBGT1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GBGT1 35
  • 84.96 (n)
  • 81.7 (a)
GBGT1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBGT1 35
  • 86.65 (n)
  • 83.57 (a)
GBGT1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gbgt1 35
  • 80.98 (n)
  • 79.25 (a)
Gbgt1 16
Gbgt1 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBGT1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBGT1 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBGT1 35
  • 66.67 (n)
  • 64.41 (a)
GBGT1 36
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2167 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
abo 36
  • 49 (a)
OneToMany
GBGT1 (1 of 10) 36
  • 48 (a)
OneToMany
GBGT1 (2 of 10) 36
  • 47 (a)
OneToMany
GBGT1 (7 of 10) 36
  • 50 (a)
OneToMany
GBGT1 (8 of 10) 36
  • 45 (a)
OneToMany
GBGT1 (9 of 10) 36
  • 51 (a)
OneToMany
gbgt1l1 36
  • 43 (a)
OneToMany
gbgt1l2 36
  • 47 (a)
OneToMany
gbgt1l3 36
  • 44 (a)
OneToMany
gbgt1l4 35
  • 54.77 (n)
  • 53.16 (a)
gbgt1l4 36
  • 44 (a)
OneToMany
Species with no ortholog for GBGT1:
  • 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

Pseudogenes.org Pseudogenes 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 MAF
rs651453 -- 133,155,071(-) CACCC(A/G)GGAGG intron-variant
rs2073921 -- 133,162,643(-) GAATC(A/G)CTTGA intron-variant
rs2073922 -- 133,162,584(-) AGCCC(A/G)GTTGA intron-variant
rs2073923 -- 133,162,458(-) AGGCC(A/G)GTGGG utr-variant-5-prime
rs2073924 - 133,162,355(-) CAAGC(C/T)TCAGT reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv831744 CNV Gain+Loss 17160897
nsv894030 CNV Loss 21882294
dgv8320n71 CNV Loss 21882294
nsv508565 CNV Loss 20534489
nsv894034 CNV Loss 21882294
dgv8321n71 CNV Gain 21882294
nsv894036 CNV Loss 21882294
nsv894037 CNV Gain 21882294
dgv8322n71 CNV Gain 21882294
dgv8323n71 CNV Gain 21882294
nsv894043 CNV Gain 21882294
nsv894044 CNV Gain 21882294
dgv951n27 CNV Gain 19166990
nsv894049 CNV Loss 21882294
dgv8324n71 CNV Loss 21882294

Relevant External Links for GBGT1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with GBGT1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Expression cloning of Forssman glycolipid synthetase: a novel member of the histo-blood group ABO gene family. (PMID: 8855242) Haslam D.B. … Baenziger J.U. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4

Products for GBGT1 Gene

Sources for GBGT1 Gene

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