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

Summary

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: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133152948..133163914, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145367034..145378011, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136028335..136039301, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1198 (e-PCR)
- UniSTS:153098

D9S2157 (e-PCR), detects polymorphism
- UniSTS:22676

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

EC 2.4.1.88

NP_001269561.1

EC 2.4.1.88

NP_001275501.1

EC 2.4.1.88

NP_001275502.1

EC 2.4.1.88

NP_068836.2

EC 2.4.1.88

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

NG_033868.1 RefSeqGene

Range

5032..15998

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_826

mRNA and Protein(s)

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
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
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
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
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