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UniProt functional annotation for P16442 | ||
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| UniProt code: P16442. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| 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. |
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| Catalytic activity: | |
Reaction=an alpha-L-fucosyl-(1->2)-beta-D-galactosyl derivative + UDP- N-acetyl-alpha-D-galactosamine = an N-acetyl-alpha-D-galactosaminyl- (1->3)-[alpha-L-fucosyl-(1->2)]-beta-D-galactosyl derivative + H(+) + UDP; Xref=Rhea:RHEA:19021, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:140327, ChEBI:CHEBI:140559; EC=2.4.1.40; Evidence={ECO:0000269|PubMed:12198488, ECO:0000269|PubMed:17259183}; |
| Catalytic activity: | |
Reaction=an alpha-L-fucosyl-(1->2)-beta-D-galactosyl derivative + UDP- alpha-D-galactose = an alpha-D-galactosyl-(1->3)-[alpha-L-fucosyl- (1->2)]-beta-D-galactosyl derivative + H(+) + UDP; Xref=Rhea:RHEA:14349, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:140327, ChEBI:CHEBI:140328; EC=2.4.1.37; Evidence={ECO:0000269|PubMed:12198488, ECO:0000269|PubMed:17259183}; |
| Cofactor: | |
Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:17259183}; Note=Binds 1 Mn(2+) ion per subunit. {ECO:0000269|PubMed:17259183}; |
| Pathway: | |
Protein modification; protein glycosylation. {ECO:0000305}. |
| 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. |
| 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. |
| Ptm: | |
The soluble form derives from the membrane form by proteolytic processing. |
| Polymorphism: | |
Genetic variations in ABO define the ABO blood group system [MIM:616093]. The ABO blood group system is the most important blood group system in blood transfusion. The sequence shown here is that of the A transferase. The B form differs by a few residues substitution. Residues 266 and 268 are important for specificity. The reference genome assembly (GRCh38/hg38) describes a non-functional O- type ABO allele. The O-type ABO allele results in a guanine deletion (NM_020469.2: c.286delG). This deletion induces a frameshift and creates a premature stop codon resulting in a truncated (117 amino acids) protein deprived of any glycosyltransferase activity (PubMed:2333095). {ECO:0000269|PubMed:10462501, ECO:0000269|PubMed:12829588, ECO:0000269|PubMed:1449469, ECO:0000269|PubMed:15104652, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18513251, ECO:0000269|PubMed:2121736, ECO:0000269|PubMed:2333095, ECO:0000269|PubMed:7598760, ECO:0000269|PubMed:8839869, ECO:0000269|Ref.15, ECO:0000269|Ref.5, ECO:0000269|Ref.9}. |
| Similarity: | |
Belongs to the glycosyltransferase 6 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.