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

Gene ID: 26301, updated on 18-Aug-2020

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
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

Genomic context

See GBGT1 in Genome Data Viewer
Location:
9q34.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133152948..133163914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136028335..136039320, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene carboxyl ester lipase pseudogene Neighboring gene ral guanine nucleotide dissociation stimulator Neighboring gene uncharacterized LOC101928193 Neighboring gene odorant binding protein 2B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Potential readthrough

Included gene: RALGDS

Homology

Clone Names

  • FLJ55326, MGC44848

Gene Ontology Provided by GOA

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

General protein information

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)

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)

mRNA and Protein(s)

  1. NM_001282629.2NP_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:60119
    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_001282632.2NP_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/Swiss-Prot
    Q8N5D6
    Related
    ENSP00000437663.1, ENST00000540636.6
    Conserved Domains (1) summary
    cl11394
    Location:47330
    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_001288572.2NP_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/Swiss-Prot
    Q8N5D6
    Conserved Domains (1) summary
    cl11394
    Location:13300
    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_001288573.2NP_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:1211
    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_021996.6NP_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
    Q8N5D6
    UniProtKB/TrEMBL
    J7Q0Z1
    Related
    ENSP00000361110.3, ENST00000372040.9
    Conserved Domains (1) summary
    cl11394
    Location:60347
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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