LMPD Database

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LMP006775

Record overview

LMPD IDLMP006775
Gene ID28
SpeciesHomo sapiens (Human)
Gene NameABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Gene SymbolABO
SynonymsA3GALNT; A3GALT1; GTB; NAGAT
Alternate nameshisto-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
Chromosome9
Map Location9q34.2
EC Number2.4.1.40
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ABO

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
MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDHLQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTF
NIDILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRF
LSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVW
HDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP
 
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: 
AVREPDHLQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFT
DQPAAVPRVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSSREAFTYERRPQSQ
AYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVWHDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRN
P