Hmdb loader

Showing Protein Histo-blood group ABO system transferase (HMDBP01100)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 5 metabolites
Identification
HMDB Protein ID HMDBP01100
Secondary Accession Numbers
  • 6389
  • HMDBP05293
Name Histo-blood group ABO system transferase
Synonyms
  1. A transferase
  2. B transferase
  3. Fucosylglycoprotein 3-alpha-galactosyltransferase
  4. Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase
  5. Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form
  6. Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
  7. Glycoprotein-fucosylgalactoside alpha-galactosyltransferase
  8. Histo-blood group A transferase
  9. Histo-blood group B transferase
  10. NAGAT
Gene Name ABO
Protein Type Unknown
Biological Properties
General Function Involved in transferase activity, transferring hexosyl groups
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.
Pathways
  • Glycosphingolipid biosynthesis - lacto and neolacto series
  • protein glycosylation
Reactions
UDP-N-acetyl-alpha-beta-D-galactosamine + glycoprotein-alpha-L-fucosyl-(1->2)-D-galactose → Uridine 5'-diphosphate + glycoprotein-N-acetyl-alpha-D-galactosaminyl-(1->3)-(alpha-L-fucosyl-(1->2))-beta-D-galactose details
Uridine diphosphategalactose + alpha-L-fucosyl-(1->2)-D-galactosyl-R → Uridine 5'-diphosphate + alpha-D-galactosyl-(1->3)-(alpha-L-fucosyl-(1->2))-D-galactosyl-R details
UDP-D-galactose + IV2Fuc-nLc4Cer → UDP + Type II B antigen details
UDP-N-acetyl-D-galactosamine + IV2Fuc-Lc4Cer → UDP + Type IA glycolipid details
UDP-D-galactose + IV2Fuc-Lc4Cer → UDP + Type IB glycolipid details
UDP-N-acetyl-D-galactosamine + IV2Fuc-nLc4Cer → UDP + Type II A antigen details
UDP-D-galactose + VI2Fuc-nLc6 → UDP + details
UDP-N-acetyl-D-galactosamine + → UDP + Type IIIAb details
UDP-N-acetyl-D-galactosamine + VI2Fuc-nLc6 → UDP + details
UDP-N-acetyl-D-galactosamine + Type IIIH glycolipid → UDP + Type IIIA glycolipid details
GO Classification
Biological Process
protein glycosylation
Cellular Component
Golgi cisterna membrane
integral to Golgi membrane
extracellular region
Component
membrane
cell part
Function
catalytic activity
transferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Molecular Function
metal ion binding
fucosylgalactoside 3-alpha-galactosyltransferase activity
glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
Process
metabolic process
primary metabolic process
carbohydrate metabolic process
Cellular Location
  1. Secreted
  2. Single-pass type II membrane protein
  3. Golgi apparatus
  4. Golgi stack membrane
Gene Properties
Chromosome Location 9
Locus 9q34.2
SNPs ABO
Gene Sequence 
>1065 bp
ATGGCCGAGGTGTTGCGGACGCTGGCCGGAAAACCAAAATGCCACGCACTTCGACCTATG
ATCCTTTTCCTAATAATGCTTGTCTTGGTCTTGTTTGGTTACGGGGTCCTAAGCCCCAGA
AGTCTAATGCCAGGAAGCCTGGAACGGGGGTTCTGCATGGCTGTTAGGGAACCTGACCAT
CTGCAGCGCGTCTCGTTGCCAAGGATGGTCTACCCCCAGCCAAAGGTGCTGACACCGTGT
AGGAAGGATGTCCTCGTGGTGACCCCTTGGCTGGCTCCCATTGTCTGGGAGGGCACATTC
AACATCGACATCCTCAACGAGCAGTTCAGGCTCCAGAACACCACCATTGGGTTAACTGTG
TTTGCCATCAAGAAATACGTGGCTTTCCTGAAGCTGTTCCTGGAGACGGCGGAGAAGCAC
TTCATGGTGGGCCACCGTGTCCACTACTATGTCTTCACCGACCAGCCGGCCGCGGTGCCC
CGCGTGACGCTGGGGACCGGTCGGCAGCTGTCAGTGCTGGAGGTGCGCGCCTACAAGCGC
TGGCAGGACGTGTCCATGCGCCGCATGGAGATGATCAGTGACTTCTGCGAGCGGCGCTTC
CTCAGCGAGGTGGATTACCTGGTGTGCGTGGACGTGGACATGGAGTTCCGCGACCACGTG
GGCGTGGAGATCCTGACTCCGCTGTTCGGCACCCTGCACCCCGGCTTCTACGGAAGCAGC
CGGGAGGCCTTCACCTACGAGCGCCGGCCCCAGTCCCAGGCCTACATCCCCAAGGACGAG
GGCGATTTCTACTACCTGGGGGGGTTCTTCGGGGGGTCGGTGCAAGAGGTGCAGCGGCTC
ACCAGGGCCTGCCACCAGGCCATGATGGTCGACCAGGCCAACGGCATCGAGGCCGTGTGG
CACGACGAGAGCCACCTGAACAAGTACCTGCTGCGCCACAAACCCACCAAGGTGCTCTCC
CCCGAGTACTTGTGGGACCAGCAGCTGCTGGGCTGGCCCGCCGTCCTGAGGAAGCTGAGG
TTCACTGCGGTGCCCAAGAACCACCAGGCGGTCCGGAACCCGTGA
Protein Properties
Number of Residues 354
Molecular Weight 40933.555
Theoretical pI 8.989
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Histo-blood group ABO system transferase
MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDH
LQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTV
FAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKR
WQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSS
REAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVW
HDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP
GenBank ID Protein 58331216
UniProtKB/Swiss-Prot ID P16442
UniProtKB/Swiss-Prot Entry Name BGAT_HUMAN
PDB IDs
GenBank Gene ID NM_020469.2
GeneCard ID ABO
GenAtlas ID ABO
HGNC ID HGNC:79
References
General References
  1. 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. [PubMed:15489334 ]
  2. 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. [PubMed:2104828 ]
  3. 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. [PubMed:2333095 ]
  4. 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. [PubMed:7598760 ]
  5. 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. [PubMed:7779106 ]
  6. 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. [PubMed:16533287 ]
  7. 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. [PubMed:17764507 ]
  8. 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. [PubMed:18513251 ]
  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. [PubMed:12829588 ]
  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. [PubMed:8839869 ]
  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. [PubMed:9800297 ]
  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. [PubMed:15104652 ]
  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. [PubMed:1449469 ]
  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. [PubMed:2121736 ]
  15. 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. [PubMed:12198488 ]
  16. 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. [PubMed:12529355 ]
  17. 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. [PubMed:12972418 ]
  18. 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. [PubMed:15475562 ]
  19. 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. [PubMed:16326711 ]
  20. 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. [PubMed:17259183 ]