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GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [ Homo sapiens (human) ]

Gene ID: 26301, updated on 5-Mar-2024

Summary

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Official Symbol
GBGT1provided by HGNC
Official Full Name
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)provided by HGNC
Primary source
HGNC:HGNC:20460
See related
Ensembl:ENSG00000148288 MIM:606074; AllianceGenome:HGNC:20460
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FS; A3GALNT; UNQ2513
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 protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Expression
Ubiquitous expression in placenta (RPKM 6.0), appendix (RPKM 5.4) and 24 other tissues See more
Orthologs
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Genomic context

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See GBGT1 in Genome Data Viewer
Location:
9q34.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133152948..133163914, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145367034..145378011, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136028335..136039301, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135976589-135977788 Neighboring gene ral guanine nucleotide dissociation stimulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135995531-135996227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:136002206-136003405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136008097-136008641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136019197-136019756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136024237-136024884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136038755-136039477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136062831-136063698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136075403-136076124 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136081856-136082043 Neighboring gene odorant binding protein 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136102720-136103675 Neighboring gene lipocalin 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GBGT1 is allelically diverse but dispensable in humans and naturally occurring anti-FORS1 shows an ABO-restricted pattern. Hult AK, et al. Transfusion, 2018 Aug. PMID 30277576
  2. Blood group ABO gene-encoded A transferase catalyzes the biosynthesis of FORS1 antigen of FORS system upon Met69Thr/Ser substitution. Cid E, et al. Blood Adv, 2018 Jun 26. PMID 29898878, Free PMC Article
  3. Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells. Jacob F, et al. BMC Mol Biol, 2014 Oct 7. PMID 25294702, Free PMC Article
  4. Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system. Svensson L, et al. Blood, 2013 Feb 21. PMID 23255552
  5. Molecular genetic basis of the human Forssman glycolipid antigen negativity. Yamamoto M, et al. Sci Rep, 2012. PMID 23240079, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. an amino acid substitution at codon 69 from methionine to threonine or serine (Met69Thr/Ser) modified enzymatic specificity of Blood group A/B glycosyltransferases and permitted FORS1 biosynthesis
    Title: Blood group ABO gene-encoded A transferase catalyzes the biosynthesis of FORS1 antigen of FORS system upon Met69Thr/Ser substitution.
  2. extended the knowledge of GBGT1 variants, allele frequencies, and the characteristics of naturally occurring antibodies in our newest carbohydrate blood group system, FORS. The finding of c.363C>A-homozygous donors indicates that GBGT1 is dispensable.
    Title: GBGT1 is allelically diverse but dispensable in humans and naturally occurring anti-FORS1 shows an ABO-restricted pattern.
  3. GBGT1 expression is epigenetically silenced through promoter hypermethylation in ovarian cancer.
    Title: Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells.
  4. The Fs synthase gene, GBGT1, in A(pae) individuals encoded an arginine to glutamine change at residue 296.
    Title: Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: RALGDS

Homology

Clone Names

  • FLJ55326, MGC44848

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables globoside alpha-N-acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolipid biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in lipid glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Names
Forssman blood group
Forssman glycolipid synthetase (FS)
forssman glycolipid synthase-like protein
NP_001269558.1
NP_001269561.1
NP_001275501.1
NP_001275502.1
NP_068836.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033868.1 RefSeqGene

    Range
    5032..15998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_826

mRNA and Protein(s)

  1. NM_001282629.2 → NP_001269558.1  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_001269558.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK074639, AL162417, CA397865, HY315485
    Consensus CDS
    CCDS65176.1
    UniProtKB/Swiss-Prot
    Q8N5D6
    Related
    ENSP00000361113.3, ENST00000372043.7
    Conserved Domains (1) summary
    cl11394
    Location:60 → 119
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  2. NM_001282632.2 → NP_001269561.1  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 3

    See identical proteins and their annotated locations for NP_001269561.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1
    Source sequence(s)
    AK303825, AL162417
    Consensus CDS
    CCDS65175.1
    UniProtKB/TrEMBL
    J7Q261, J7Q2I4
    Related
    ENSP00000437663.1, ENST00000540636.6
    Conserved Domains (1) summary
    cl11394
    Location:47 → 330
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  3. NM_001288572.2 → NP_001275501.1  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK307687, AY358175, BI906086, CA397865, HY315485
    UniProtKB/TrEMBL
    J7Q261
    Conserved Domains (1) summary
    cl11394
    Location:13 → 300
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  4. NM_001288573.2 → NP_001275502.1  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 5

    See identical proteins and their annotated locations for NP_001275502.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK307687, AY358175, HY315485
    UniProtKB/Swiss-Prot
    Q8N5D6
    Conserved Domains (1) summary
    cl11394
    Location:1 → 211
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  5. NM_021996.6 → NP_068836.2  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_068836.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL162417, BC032499, CA397865
    Consensus CDS
    CCDS6960.1
    UniProtKB/Swiss-Prot
    A8K633, B2RA95, B7Z8S5, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q8N5D6, Q9UKI5
    UniProtKB/TrEMBL
    J7Q0Z1, J7Q261, J7Q2I4
    Related
    ENSP00000361110.3, ENST00000372040.9
    Conserved Domains (1) summary
    cl11394
    Location:60 → 347
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133152948..133163914 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145367034..145378011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N5D6.2 GenPept UniProtKB/Swiss-Prot:Q8N5D6

Gene LinkOut

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