Histo-blood group ABO system transferase

Details

Name
Histo-blood group ABO system transferase
Synonyms
  • A transferase
  • B transferase
  • Fucosylglycoprotein 3-alpha-galactosyltransferase
  • Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase
  • Glycoprotein-fucosylgalactoside alpha-galactosyltransferase
  • Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
  • Histo-blood group A transferase
  • Histo-blood group B transferase
  • NAGAT
Gene Name
ABO
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010010|Histo-blood group ABO system transferase
MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDH
LQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTV
FAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKR
WQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSS
REAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVW
HDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP
Number of residues
354
Molecular Weight
40933.555
Theoretical pI
9.24
GO Classification
Functions
fucosylgalactoside 3-alpha-galactosyltransferase activity / glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity / metal ion binding
Processes
protein glycosylation
Components
extracellular region / Golgi cisterna membrane / integral component of membrane
General Function
Metal ion binding
Specific 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.
Pfam Domain Function
Transmembrane Regions
33-53
Cellular Location
Golgi apparatus
Gene sequence
>lcl|BSEQ0010011|Histo-blood group ABO system transferase (ABO)
ATGGCCGAGGTGTTGCGGACGCTGGCCGGAAAACCAAAATGCCACGCACTTCGACCTATG
ATCCTTTTCCTAATAATGCTTGTCTTGGTCTTGTTTGGTTACGGGGTCCTAAGCCCCAGA
AGTCTAATGCCAGGAAGCCTGGAACGGGGGTTCTGCATGGCTGTTAGGGAACCTGACCAT
CTGCAGCGCGTCTCGTTGCCAAGGATGGTCTACCCCCAGCCAAAGGTGCTGACACCGTGT
AGGAAGGATGTCCTCGTGGTGACCCCTTGGCTGGCTCCCATTGTCTGGGAGGGCACATTC
AACATCGACATCCTCAACGAGCAGTTCAGGCTCCAGAACACCACCATTGGGTTAACTGTG
TTTGCCATCAAGAAATACGTGGCTTTCCTGAAGCTGTTCCTGGAGACGGCGGAGAAGCAC
TTCATGGTGGGCCACCGTGTCCACTACTATGTCTTCACCGACCAGCCGGCCGCGGTGCCC
CGCGTGACGCTGGGGACCGGTCGGCAGCTGTCAGTGCTGGAGGTGCGCGCCTACAAGCGC
TGGCAGGACGTGTCCATGCGCCGCATGGAGATGATCAGTGACTTCTGCGAGCGGCGCTTC
CTCAGCGAGGTGGATTACCTGGTGTGCGTGGACGTGGACATGGAGTTCCGCGACCACGTG
GGCGTGGAGATCCTGACTCCGCTGTTCGGCACCCTGCACCCCGGCTTCTACGGAAGCAGC
CGGGAGGCCTTCACCTACGAGCGCCGGCCCCAGTCCCAGGCCTACATCCCCAAGGACGAG
GGCGATTTCTACTACCTGGGGGGGTTCTTCGGGGGGTCGGTGCAAGAGGTGCAGCGGCTC
ACCAGGGCCTGCCACCAGGCCATGATGGTCGACCAGGCCAACGGCATCGAGGCCGTGTGG
CACGACGAGAGCCACCTGAACAAGTACCTGCTGCGCCACAAACCCACCAAGGTGCTCTCC
CCCGAGTACTTGTGGGACCAGCAGCTGCTGGGCTGGCCCGCCGTCCTGAGGAAGCTGAGG
TTCACTGCGGTGCCCAAGAACCACCAGGCGGTCCGGAACCCGTGA
Chromosome Location
9
Locus
9q34.1-q34.2
External Identifiers
ResourceLink
UniProtKB IDP16442
UniProtKB Entry NameBGAT_HUMAN
GenBank Protein ID340078
GenBank Gene IDJ05175
GenAtlas IDABO
HGNC IDHGNC:79
General References
  1. Yamamoto F, Marken J, Tsuji T, White T, Clausen H, Hakomori S: Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1----2Gal alpha 1----3GalNAc transferase (histo-blood group A transferase) mRNA. J Biol Chem. 1990 Jan 15;265(2):1146-51. [Article]
  2. Yamamoto F, Clausen H, White T, Marken J, Hakomori S: Molecular genetic basis of the histo-blood group ABO system. Nature. 1990 May 17;345(6272):229-33. [Article]
  3. Bennett EP, Steffensen R, Clausen H, Weghuis DO, van Kessel AG: Genomic cloning of the human histo-blood group ABO locus. Biochem Biophys Res Commun. 1995 Jan 5;206(1):318-25. [Article]
  4. Bennett EP, Steffensen R, Clausen H, Weghuis DO, Geurts van Kessel A: Genomic cloning of the human histo-blood group ABO locus. Biochem Biophys Res Commun. 1995 Jun 6;211(1):347. [Article]
  5. Seltsam A, Das Gupta C, Bade-Doeding C, Blasczyk R: A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene. Transfusion. 2006 Mar;46(3):434-40. [Article]
  6. Seltsam A, Wagner FF, Gruger D, Gupta CD, Bade-Doeding C, Blasczyk R: Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene. Transfusion. 2007 Dec;47(12):2330-5. Epub 2007 Aug 30. [Article]
  7. Seltsam A, Gruger D, Just B, Figueiredo C, Gupta CD, Deluca DS, Blasczyk R: Aberrant intracellular trafficking of a variant B glycosyltransferase. Transfusion. 2008 Sep;48(9):1898-905. doi: 10.1111/j.1537-2995.2008.01782.x. Epub 2008 May 29. [Article]
  8. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  9. Seltsam A, Hallensleben M, Kollmann A, Blasczyk R: The nature of diversity and diversification at the ABO locus. Blood. 2003 Oct 15;102(8):3035-42. Epub 2003 Jun 26. [Article]
  10. Ogasawara K, Yabe R, Uchikawa M, Saitou N, Bannai M, Nakata K, Takenaka M, Fujisawa K, Ishikawa Y, Juji T, Tokunaga K: Molecular genetic analysis of variant phenotypes of the ABO blood group system. Blood. 1996 Oct 1;88(7):2732-7. [Article]
  11. Olsson ML, Chester MA: Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. Transfus Med. 1998 Sep;8(3):231-8. [Article]
  12. Roubinet F, Despiau S, Calafell F, Jin F, Bertranpetit J, Saitou N, Blancher A: Evolution of the O alleles of the human ABO blood group gene. Transfusion. 2004 May;44(5):707-15. [Article]
  13. Kominato Y, McNeill PD, Yamamoto M, Russell M, Hakomori S, Yamamoto F: Animal histo-blood group ABO genes. Biochem Biophys Res Commun. 1992 Nov 30;189(1):154-64. [Article]
  14. Yamamoto F, Hakomori S: Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. J Biol Chem. 1990 Nov 5;265(31):19257-62. [Article]
  15. Yu LC, Lee HL, Chan YS, Lin M: The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity. Biochem Biophys Res Commun. 1999 Aug 27;262(2):487-93. [Article]
  16. Patenaude SI, Seto NO, Borisova SN, Szpacenko A, Marcus SL, Palcic MM, Evans SV: The structural basis for specificity in human ABO(H) blood group biosynthesis. Nat Struct Biol. 2002 Sep;9(9):685-90. [Article]
  17. Marcus SL, Polakowski R, Seto NO, Leinala E, Borisova S, Blancher A, Roubinet F, Evans SV, Palcic MM: A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. J Biol Chem. 2003 Apr 4;278(14):12403-5. Epub 2003 Jan 15. [Article]
  18. Nguyen HP, Seto NO, Cai Y, Leinala EK, Borisova SN, Palcic MM, Evans SV: The influence of an intramolecular hydrogen bond in differential recognition of inhibitory acceptor analogs by human ABO(H) blood group A and B glycosyltransferases. J Biol Chem. 2003 Dec 5;278(49):49191-5. Epub 2003 Sep 11. [Article]
  19. Lee HJ, Barry CH, Borisova SN, Seto NO, Zheng RB, Blancher A, Evans SV, Palcic MM: Structural basis for the inactivity of human blood group O2 glycosyltransferase. J Biol Chem. 2005 Jan 7;280(1):525-9. Epub 2004 Oct 8. [Article]
  20. Letts JA, Rose NL, Fang YR, Barry CH, Borisova SN, Seto NO, Palcic MM, Evans SV: Differential recognition of the type I and II H antigen acceptors by the human ABO(H) blood group A and B glycosyltransferases. J Biol Chem. 2006 Feb 10;281(6):3625-32. Epub 2005 Dec 2. [Article]
  21. Persson M, Letts JA, Hosseini-Maaf B, Borisova SN, Palcic MM, Evans SV, Olsson ML: Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif. J Biol Chem. 2007 Mar 30;282(13):9564-70. Epub 2007 Jan 26. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB02196Uridine-Diphosphate-N-AcetylgalactosamineexperimentalunknownDetails
DB03435Uridine-5'-DiphosphateexperimentalunknownDetails
DB03501Galactose-uridine-5'-diphosphateexperimentalunknownDetails
DB037722-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,5-DiolexperimentalunknownDetails
DB041412-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-TriolexperimentalunknownDetails
DB04678H TYPE II TRISACCHARIDEexperimentalunknownDetails
DB04679Human blood group H type 1 trisaccharideexperimentalunknownDetails
DB04680GALACTOSE GREASEexperimentalunknownDetails
DB04681BETA-METHYLLACTOSIDEexperimentalunknownDetails
DB07341octyl 3-amino-3-deoxy-2-O-(2,6-dideoxy-alpha-L-lyxo-hexopyranosyl)-beta-D-galactopyranosideexperimentalunknownDetails
DB073574-AMINO-2-HEXYLOXY-6-HYDROXYMETHYL-TETRAHYDRO-PYRAN-3,5-DIOLexperimentalunknownDetails
DB073784-AMINO-2-OCTYLOXY-6-HYDROXYMETHYL-TETRAHYDRO-PYRAN-3,5-DIOLexperimentalunknownDetails
DB07633octyl 3-deoxy-2-O-(6-deoxy-alpha-L-galactopyranosyl)-beta-D-xylo-hexopyranosideexperimentalunknownDetails