Gene/Proteome Database (LMPD)
LMPD ID
LMP006775
Gene ID
Species
Homo sapiens (Human)
Gene Name
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Gene Symbol
Synonyms
A3GALNT; A3GALT1; GTB; NAGAT
Alternate Names
histo-blood group ABO system transferase; ABO weak transfer; ABO A3 transferase; ABO glycosyltransferase; histo-blood group A transferase; histo-blood group B transferase; histo-blood group A2 transferase; B(A) alpha-1,3-galactosyltransferase; fucosylglycoprotein 3-alpha-galactosyltransferase; fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; glycoprotein-fucosylgalactoside alpha-galactosyltransferase; glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
Chromosome
9
Map Location
9q34.2
EC Number
2.4.1.40
Summary
This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| histo-blood group ABO system transferase | |
|---|---|
| Refseq ID | NP_065202 |
| Protein GI | 58331216 |
| UniProt ID | P16442 |
| mRNA ID | NM_020469 |
| Length | 354 |
| RefSeq Status | REVIEWED |
| MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDHLQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVWHDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP | |
| mat_peptide: 54..354 product: Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P16442.2) calculated_mol_wt: 35074 peptide sequence: AVREPDHLQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVWHDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP | |
Gene Information
Entrez Gene ID
Gene Name
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | IEA:UniProtKB-KW | C | Golgi apparatus |
| GO:0005576 | IEA:UniProtKB-KW | C | extracellular region |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0004381 | IEA:UniProtKB-EC | F | fucosylgalactoside 3-alpha-galactosyltransferase activity |
| GO:0004380 | IEA:UniProtKB-EC | F | glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity |
| GO:0046872 | IEA:UniProtKB-KW | F | metal ion binding |
| GO:0006486 | IEA:UniProtKB-UniPathway | P | protein glycosylation |
KEGG Pathway Links
Domain Information
UniProt Annotations
Entry Information
Gene Name
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Protein Entry
BGAT_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | UDP-N-acetyl-alpha-beta-D-galactosamine + glycoprotein-alpha-L-fucosyl-(1->2)-D-galactose = UDP + glycoprotein-N-acetyl-alpha-D-galactosaminyl-(1->3)-(alpha-L- fucosyl-(1->2))-beta-D-galactose. |
| Catalytic Activity | UDP-alpha-D-galactose + alpha-L-fucosyl- (1->2)-D-galactosyl-R = UDP + alpha-D-galactosyl-(1->3)-(alpha-L- fucosyl-(1->2))-D-galactosyl-R. |
| Cofactor | Name=Mn(2+); Xref=ChEBI |
| 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. |
| Function | This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity. |
| Pathway | Protein modification; protein glycosylation. |
| Polymorphism | The sequence shown is that of the A transferase. The B form differs by a few residues substitutions. The O phenotype results from a single base frameshift in the N-terminal extremity of the gene, resulting in a severly truncated protein without catalytic activity. |
| Ptm | The soluble form derives from the membrane form by proteolytic processing. |
| Similarity | Belongs to the glycosyltransferase 6 family. |
| Subcellular Location | Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane- bound form in trans cisternae of Golgi. Secreted into the body fluid. |
| Web Resource | Name=Functional Glycomics Gateway - GTase; Note=Histo-blood group ABO system transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_450"; |
| Web Resource | Name=Functional Glycomics Gateway - GTase; Note=Histo-blood group ABO system transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_502"; |
| Web Resource | Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ABO"; |
| Web Resource | Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/abo/"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP006775 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 58331216 | RefSeq | NP_065202 | 354 | histo-blood group ABO system transferase |
Identical Sequences to LMP006775 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:58331216 | EMBL | CAM28424.1 | 354 | ABO glycosyltransferase [Homo sapiens] |
| GI:58331216 | EMBL | CAM34526.1 | 354 | ABO glycosyltransferase [Homo sapiens] |
| GI:58331216 | GenBank | AAI11576.1 | 354 | ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) [Homo sapiens] |
| GI:58331216 | GenBank | ADA28869.1 | 354 | Sequence 52 from patent US 7611703 |
| GI:58331216 | GenBank | AFG79878.1 | 354 | Sequence 137 from patent US 8137928 |
| GI:58331216 | GenBank | AIR08539.1 | 354 | histo-blood group ABO system transferase [Homo sapiens] |
Related Sequences to LMP006775 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:58331216 | EMBL | CBX20983.1 | 354 | ABO glycosyltransferase [Homo sapiens] |
| GI:58331216 | EMBL | CEJ95649.1 | 354 | ABO glycosyltransferase, partial [Homo sapiens] |
| GI:58331216 | GenBank | AFB74122.1 | 354 | glycosyltransferase A [Homo sapiens] |
| GI:58331216 | GenBank | AFS31344.1 | 354 | ABO weak transfer variant [Homo sapiens] |
| GI:58331216 | GenBank | AFV30234.1 | 354 | ABO blood group protein [Homo sapiens] |
| GI:58331216 | GenBank | AFV30235.1 | 354 | ABO blood group protein [Homo sapiens] |