Gene: [09q34/ABO] transferase A, alpha 1-3-N-acetylgalactosaminyltransferase (EC:2.4.1.40); transferase B, alpha 1-3-galactosyltransferase (EC:2.4.1.37); AB0 blood group (histo-blood group transferase);
MAP | Loci:
GEM:09q32/ORM1; GEM:09q32/ORM2; GEM:09q341/AK1. [1] See GEM:09q32/ORM1." |
FUN | [1] The A and B
alleles of the ABO gene determine a specific glycosyl-transferring enzyme.
The specificity of the enzyme formed by the A allele is to add
N-acetylgalactosaminosyl units to the ends of the oligosaccharide chains in
the final stages of the synthesis of the ABO macromolecule. The enzyme
determined by the B allele may differ from that determined by the A allele
by only a single amino acid, but its function is to add D-galactosyl units
to the end. The O allele appears to be functionless. [2] The full name for transferase A (EC:2.4.1.40) is: fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase. Catalyzes reaction: UDP-N-acetyl-D-galactosamine + glycoprotein alpha-L-fucosyl-(1,2)-D-galactose = UDP + glycoprotein N-acetyl-alpha-D-galactosaminyl-(1,3)- [alpha-L-fucosyl-(1,2)]-D-galactose. [3] The full name for transferase B (EC:2.4.1.37) is: fucosylglycoprotein 3-alpha-galactosyltransferase. Catalyzes reaction: UDP-galactose + glycoprotein alpha-L-fucosyl-(1,2)-D-galactose = UDP + glycoprotein alpha-D-galactosyl-(1,3)-[alpha-L-fucosyl-(1,2)]- D-galactose. Acts on blood group substance H." |
GEN | The gene length is over 18 kb; exons: 7. The exons range in size from 28 to 688 bp, with most of the coding sequence lying in exon 7 (Yamamoto-1995)." |
REF | LOC,LIN,CYG
"Allderdice PW &: AJHG, 39, 612-617, 1986 LOC,LIN,CYG "Cook PJ &: Ann Hum Genet, 41, 365-377, 1978 EXP,REL "Handa K &: Ann Hum Genet, 56, 192-193, 1992 EXP,REL "Henske EP &: Genomics, 13, 841-844, 1992 POL,MUT "Johnson PH &: Hum Mol Genet, 1, 341-344, 1992 EXP,REL "Povey S &: Ann Hum Genet, 58, 177-250, 1994 GEN,SEQ,EXP "Yamamoto F-I &: Glycobiology, 5, 51-58, 1995 GEN,SEQ,EXP "Yamamoto F-I &: Vox Sang, 64, 120-123, 1993 POL,MUT,SEQ,MOP,EXP "Yamamoto F-I: BBRC, 187, 366-374, 1992 COD,SEQ,EXP "Yamamoto F-I &: JBC, 265, 1146-1151, 1990a EXP,REL "Yamamoto F-I &: JBC, 265, 19257-19262, 1990b COD,SEQ,EXP "Yamamoto F-I &: Nature, 345, 229-233, 1990c |
SWI | SWISSPROT: P16442 |
KEY | hem, blgr, ant, carb |
CLA | coding, basic |
LOC | 09 q34.1-.2 |
MIM | MIM: 110300 |
EZN | ENZYME: 2.4.1.37 |
