LOCUS       NM_020469               6478 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens ABO, alpha 1-3-N-acetylgalactosaminyltransferase and
            alpha 1-3-galactosyltransferase (ABO), transcript variant A1.01,
            mRNA.
ACCESSION   NM_020469
VERSION     NM_020469.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6478)
  AUTHORS   Thuresson,B., Chester,M.A., Storry,J.R. and Olsson,M.L.
  TITLE     ABO transcript levels in peripheral blood and erythropoietic
            culture show different allele-related patterns independent of the
            CBF/NF-Y enhancer motif and multiple novel allele-specific
            variations in the 5'- and 3'-noncoding regions
  JOURNAL   Transfusion 48 (3), 493-504 (2008)
   PUBMED   18067502
REFERENCE   2  (bases 1 to 6478)
  AUTHORS   Seltsam,A., Wagner,F.F., Gruger,D., Gupta,C.D., Bade-Doeding,C. and
            Blasczyk,R.
  TITLE     Weak blood group B phenotypes may be caused by variations in the
            CCAAT-binding factor/NF-Y enhancer region of the ABO gene
  JOURNAL   Transfusion 47 (12), 2330-2335 (2007)
   PUBMED   17764507
  REMARK    GeneRIF: Data suggests that weak blood group B phenotypes may be
            caused by sequence variations in the CBF/NF-Y regulatory region.
REFERENCE   3  (bases 1 to 6478)
  AUTHORS   Twu,Y.C., Hsieh,C.Y. and Yu,L.C.
  TITLE     Expression of the histo-blood group B gene predominates in
            AB-genotype cells
  JOURNAL   Transfusion 46 (11), 1988-1996 (2006)
   PUBMED   17076855
REFERENCE   4  (bases 1 to 6478)
  AUTHORS   Jenkins,P.V. and O'Donnell,J.S.
  TITLE     ABO blood group determines plasma von Willebrand factor levels: a
            biologic function after all?
  JOURNAL   Transfusion 46 (10), 1836-1844 (2006)
   PUBMED   17002642
  REMARK    Review article
REFERENCE   5  (bases 1 to 6478)
  AUTHORS   Roubinet,F., Despiau,S., Calafell,F., Jin,F., Bertranpetit,J.,
            Saitou,N. and Blancher,A.
  TITLE     Evolution of the O alleles of the human ABO blood group gene
  JOURNAL   Transfusion 44 (5), 707-715 (2004)
   PUBMED   15104652
  REMARK    Erratum:[Transfusion. 2004 Nov;44(11):1678. Bertanpetit, Jaume
            [corrected to Bertranpetit, Jaume]]
REFERENCE   6  (bases 1 to 6478)
  AUTHORS   Seltsam,A., Hallensleben,M., Kollmann,A. and Blasczyk,R.
  TITLE     The nature of diversity and diversification at the ABO locus
  JOURNAL   Blood 102 (8), 3035-3042 (2003)
   PUBMED   12829588
REFERENCE   7  (bases 1 to 6478)
  AUTHORS   Patenaude,S.I., Seto,N.O., Borisova,S.N., Szpacenko,A.,
            Marcus,S.L., Palcic,M.M. and Evans,S.V.
  TITLE     The structural basis for specificity in human ABO(H) blood group
            biosynthesis
  JOURNAL   Nat Struct Biol 9 (9), 685-690 (2002)
   PUBMED   12198488
REFERENCE   8  (bases 1 to 6478)
  AUTHORS   Yip,S.P.
  TITLE     Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO
            alleles and readily identifies new alleles
  JOURNAL   Blood 95 (4), 1487-1492 (2000)
   PUBMED   10666229
REFERENCE   9  (bases 1 to 6478)
  AUTHORS   Kominato,Y., Tsuchiya,T., Hata,N., Takizawa,H. and Yamamoto,F.
  TITLE     Transcription of human ABO histo-blood group genes is dependent
            upon binding of transcription factor CBF/NF-Y to minisatellite
            sequence
  JOURNAL   J Biol Chem 272 (41), 25890-25898 (1997)
   PUBMED   9325321
REFERENCE   10 (bases 1 to 6478)
  AUTHORS   Ogasawara,K., Bannai,M., Saitou,N., Yabe,R., Nakata,K.,
            Takenaka,M., Fujisawa,K., Uchikawa,M., Ishikawa,Y., Juji,T. and
            Tokunaga,K.
  TITLE     Extensive polymorphism of ABO blood group gene: three major
            lineages of the alleles for the common ABO phenotypes
  JOURNAL   Hum Genet 97 (6), 777-783 (1996)
   PUBMED   8641696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV761252.1, AF134412.1,
            U15197.1 and AL772161.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 25, 2018 this sequence version replaced NM_020469.2.
            
            Summary: This gene encodes proteins related to the first discovered
            blood group system, ABO. Variation in the ABO gene (chromosome
            9q34.2) is the basis of the ABO blood group, thus the presence of
            an allele determines the blood group in an individual. 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, Apr 2022].
            
            Sequence Note: This RefSeq record represents the ABO*A1.01 allele.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: JX519570.1, JX519569.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AV761252.1         14-53
            41-1077             AF134412.1         29-1065
            1078-1567           U15197.1           17-506
            1568-6478           AL772161.10        49261-54171         c
FEATURES             Location/Qualifiers
     source          1..6478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..6478
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /note="ABO, alpha 1-3-N-acetylgalactosaminyltransferase
                     and alpha 1-3-galactosyltransferase"
                     /db_xref="GeneID:28"
                     /db_xref="HGNC:HGNC:79"
                     /db_xref="MIM:110300"
     exon            1..40
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1077
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /EC_number="2.4.1.37"
                     /EC_number="2.4.1.40"
                     /note="isoform A1.01 is encoded by transcript variant
                     A1.01; histo-blood group A2 transferase; B(A)
                     alpha-1,3-galactosyltransferase; ABO blood group
                     (transferase A, alpha
                     1-3-N-acetylgalactosaminyltransferase; transferase B,
                     alpha 1-3-galactosyltransferase)"
                     /codon_start=1
                     /product="histo-blood group ABO system transferase isoform
                     A1.01"
                     /protein_id="NP_065202.2"
                     /db_xref="GeneID:28"
                     /db_xref="HGNC:HGNC:79"
                     /db_xref="MIM:110300"
                     /translation="MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMP
                     GSLERGFCMAVREPDHLQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNI
                     DILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVP
                     RVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRD
                     HVGVEILTPLFGTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQE
                     VQRLTRACHQAMMVDQANGIEAVWHDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPA
                     VLRKLRFTAVPKNHQAVRNP"
     exon            41..110
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            111..167
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            168..215
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            216..251
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            252..386
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
     exon            387..6478
                     /gene="ABO"
                     /gene_synonym="A3GALNT; A3GALT1; GTB; NAGAT"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agacgcggag ccatggccga ggtgttgcgg acgctggccg gaaaaccaaa atgccacgca
       61 cttcgaccta tgatcctttt cctaataatg cttgtcttgg tcttgtttgg ttacggggtc
      121 ctaagcccca gaagtctaat gccaggaagc ctggaacggg ggttctgcat ggctgttagg
      181 gaacctgacc atctgcagcg cgtctcgttg ccaaggatgg tctaccccca gccaaaggtg
      241 ctgacaccgt gtaggaagga tgtcctcgtg gtgacccctt ggctggctcc cattgtctgg
      301 gagggcacat tcaacatcga catcctcaac gagcagttca ggctccagaa caccaccatt
      361 gggttaactg tgtttgccat caagaaatac gtggctttcc tgaagctgtt cctggagacg
      421 gcggagaagc acttcatggt gggccaccgt gtccactact atgtcttcac cgaccagccg
      481 gccgcggtgc cccgcgtgac gctggggacc ggtcggcagc tgtcagtgct ggaggtgcgc
      541 gcctacaagc gctggcagga cgtgtccatg cgccgcatgg agatgatcag tgacttctgc
      601 gagcggcgct tcctcagcga ggtggattac ctggtgtgcg tggacgtgga catggagttc
      661 cgcgaccacg tgggcgtgga gatcctgact ccgctgttcg gcaccctgca ccccggcttc
      721 tacggaagca gccgggaggc cttcacctac gagcgccggc cccagtccca ggcctacatc
      781 cccaaggacg agggcgattt ctactacctg ggggggttct tcggggggtc ggtgcaagag
      841 gtgcagcggc tcaccagggc ctgccaccag gccatgatgg tcgaccaggc caacggcatc
      901 gaggccgtgt ggcacgacga gagccacctg aacaagtacc tgctgcgcca caaacccacc
      961 aaggtgctct cccccgagta cttgtgggac cagcagctgc tgggctggcc cgccgtcctg
     1021 aggaagctga ggttcactgc ggtgcccaag aaccaccagg cggtccggaa cccgtgagcg
     1081 gctgccaggg gctctgggag ggctgccggc agccccgtcc ccctcccgcc cttggtttta
     1141 gcagaacggg taaactctgt ttcctttgtc cgtcctgttg tgagtaactg aagcctaggc
     1201 cccgtcccca cctcaaatca cacacacccc ctccccacca cagagacacc attacataca
     1261 cagacacaca cagaaagaca cacacagaca caaaatcaca cacacaccct ccccgccaca
     1321 gagacaccat tacatacaca gacacacaca gaaagacaca gacacaaaat cacacacaca
     1381 ccctccccgc cacagagaca caccattaca tacacagaca cgcaatcgca gatacgccct
     1441 tccggccaca gaaacacacc attacacaca catacacaga aagacacaca cagacacaca
     1501 atcacacgca gcccctcccc gccacagaga cacaccatta catacacaga cacacacaga
     1561 aagacacaca cagacacaaa atcacacaca caccctcccc gccacagaga cacaccatta
     1621 catacacaga cacacacaga cacacaatca cacacagccc ctccccgcca cagagacaca
     1681 ccattacata cacagacaca cacagacaca caatcacaga taccccctcc cggccataga
     1741 gacacaccgt tacacacaca tacacagaaa gacacacaca gcccctccct gccacagaga
     1801 cacaccatta catacacaga cacacacaga catacacaga cacacacaca gacacacaat
     1861 cacacacatc ccctccccgc cacagagaca caccattaca cacacagaca cacacagaaa
     1921 gacacacata cacacaatca cacacaccct cttcttgcca cagagacgca ccattacata
     1981 cacagacaca gacacacaga gacacagaca cacaaacata gacacacaca cacagacaca
     2041 caccagacac gcaaagacac acagacacag atacacagat acaaagacac agacatatag
     2101 acacacagac atgcacagag acacatggag acacatgcaa aaatgcacag agaaagacat
     2161 acagaagtgt acacacagac acatagacca cacagacaca cagacatgca tgcaaacaca
     2221 cagacatgca gacatgcaca caaacacaga ctcacgcaca cagacttagg cagcccaaat
     2281 tcagcgcctg gggcataagt tcctggaggg gtggccacct tcagccccca cggtaaggtc
     2341 ctgaggaacc ttccccttag acaagggatc atggaggagg tctcttccgg agcctggagg
     2401 gaggcctcaa gtggtccttc cacctcggca tcccaaagtg ctaggattat aagcatgagc
     2461 cactgcacct ggccccaaca tcatttattg aacagactgt cgtttccaca ttgtgtttct
     2521 tggcatttct gtcaaaaatc agttgaccgt aaatgcatgg attcacttcc gggctctcta
     2581 ttctgtttca ttggtctgtt tgtttttatg ccaataccat gatgttttga ttattatagc
     2641 tttatagtat atcttgaagt taggtagtgt attgtctcca gctttgttct ttttgcttaa
     2701 gattgctttg gctatttagg ggtctttgtg gccattactg acagttaaaa tggccctggc
     2761 tcatgtctcc tgggcctcta cagtacttta ggtggggaag tactgtggcc cacatgtccc
     2821 aacaggctgt gtgtggcacc tgacagtgct ttgtgccact gtggagcagg tgttactccc
     2881 tcatacgaat tttaggatta ttttatttat ttcagtgaaa aatgtcaatg aaattttgat
     2941 agggattgca ttgaatctgt agattgtttg gggttgtatg gacattttaa caatattaat
     3001 tcttccaatt catgaacatg ggatgtcttt tttttggcac ctgatctcag atatgggaca
     3061 gctttctaat tatttgtatc ttcaatttct ttcacaaatg ttttatagtt ttcagcatac
     3121 agatctttca cttccttggt tggatttatt tgcaagtatt ttttgtagct attgtaaatg
     3181 acattgtttt cttgatttct ttgttagggt atagaaatgc tacagattgt tgtatgttaa
     3241 ttttatatcc tgcaacttta ctgatttcat ttattctaac atcttattgg tggaatcttt
     3301 agggttttct ataagatcat gtcatctgta aacagggaca atttaagttc ttcctttcca
     3361 atttggatac cttttatttc ttcctcttgc ctaattattt tggctgaggg ccaacttgtt
     3421 gggtttgttg ttgttggttt ttgtctgtgt cttttggtgt ttcgtgttgc tggcttttcc
     3481 agcacacagt cacagatata tgaggcagaa agaaaaccca gggaactcct gtcatgtcat
     3541 tcctcaggtc ccaaggtccc tacatggtct gccttcttct ctccaccttt tagtgtttga
     3601 tatacatacg tttatgtatg tagttatata tgtatgtgta atacccgggg aaatatacag
     3661 agattttaac tgtccttagt gtagggcgtg gggacaggtg catctattct accttgcctg
     3721 gaagtggaaa aatcttcaag aaatcaattt atcaccaact ggcatgacag aactcctggt
     3781 ttagtgtcta gctgtctcca ctaaaatcaa tcaccatgcc atcaggcact ctcttccctc
     3841 tggtgtgtac tggtacctga aacagcgtcc agcaccctga gagcacagaa cgcagcttct
     3901 tatgtgcccc acccaataat cccaaatcga gcacagacct gggagctgaa gagacaagct
     3961 ggaggtcagg cagttctatt acttaagcct ggttcttcct gactccaaaa gccaggcgcc
     4021 accccatgct ccttcccagc agaagctggt tttcaccggg tcaggaggac aggatggcta
     4081 ttcctgaccg ttgtacagca gtgccacatc tcctagtttc cagaacattt aatgtgttgc
     4141 tgtggaggcc tggcagctct gaagtagccc cttgcgccca ggacaaaccg ggcctggagg
     4201 ggtggggtgg ggtaagctga agcttccagt atcccacgtg ggcattctgt tgctgagggc
     4261 aaccgcccct ccctgcaagg gaggggaagg agcaggcagg cacacccttc ctccctccac
     4321 atttcactgg agttgacctg tgtcctactg tggttgcacc tggaccagcc cagagggact
     4381 ggagtgactc ttcccgcagg tagggcacag ccagcctggg cacagggcct cactgcaatc
     4441 cctgcgcccc gcctccctgg gggatttcca ggggttgtcc tgctgcttgg tgagctgggg
     4501 gtgtggggga ccacagatga ggcaggcgcc taaattgctt gggcggagtc cggctgctct
     4561 ctccctccag gccctttcct gtgtcctcgg gcccctcggg tccctgcacc aggccagcag
     4621 caatcgggtg tcagaggttc aagtccaggc tgactcctgg gatgcaccga ctttgcccag
     4681 gagggctggg gagagggcag ccccaaagtg tcatctttga ttattctttg tccccaaagc
     4741 cagccttggg catgtgccca gcacagggag agctgctgcc tctgtgggct tgagtcattt
     4801 ttgcttcctt gcccctctct gctctgtttg gtttaaaaaa caaaaaccaa cacccatggg
     4861 tgaggcgagg cgaggcgagg cttgccttga tccacccgct tcctcccctg cagcctcggg
     4921 ccccatcctc ccgcgtggcc gcactagggg tgctgggggc ggagtgggga ccagacctga
     4981 gtgggttctg ggttcggctt cgcagcagga gcagctgggg catcatcagt tgggcaggtg
     5041 acccaggatc tgagcaggaa tcttccaggt ggaggtgggg ccgcccctct gcttgccaca
     5101 gctgccttct gctctggggg cagcactggc tgagaatcca gtgaagtaag gcctttgaaa
     5161 tggttttgat tgtaaaagta atgtttatgt ttagccattc ctttttttat tttttatttt
     5221 ttgagacggg tctccctctg tcacccaggc tggagtgcag tcgtgaaatg tgggctcact
     5281 gcaacctcca cctcccaggt tcaagtgatt ctcctgcctc agcctcctga gtagttggga
     5341 ttacaagtgc ctgccaccac acctgactaa gttttgtatt ttttagtaga gatggagttt
     5401 caccatgttg gccaggctgg tctcaaactc atatcctcaa gtgatccacc ctcctcgtcc
     5461 tcccaaagtg ctgggatttt gccatgagcc accacgctca gccatgttta gccattttta
     5521 aaaggtgtga acagataatt aagtctatta gcaacattag aaaatttaag ttaaaattta
     5581 aatgactcta gcaagaatta gcctttaggt gccctgggtc cccctcccca ccgcccccca
     5641 ccccgccgcc ttctgagaag cgttttgtaa tttttcttat ttataaaatg ggtttgattc
     5701 aaaactgact tttcctcttc acagagtctc acaggtcctt ccccaggtcc aagaggctct
     5761 tctgtggtct aatgacaagt agctgcctag ccgtggtggc acctcctatc acatgttaag
     5821 ggacccctcc ccagggccac acctggcaga aggtggctta tgatgttcgc agcttgaaag
     5881 tagtgtaaac caaagataaa attctaagcc cactccccca gccatcggaa tggacccctc
     5941 ctcttggcca gggcactcca aagttaacct gaaaaaccgg ttcaggctgt gaagagaagg
     6001 tggagtggac atgcctcatt tatgtcctcc tcccttttgg aattcagcaa agctgaccag
     6061 catgaacatt aacacagacc ttaagtctga ttagtggcat ttacaatcta tactctctga
     6121 agcgtgctac ctggaggctt cctttgcatg ataaaacttt ggtctccaca accccttatc
     6181 ataacctaga cactcctttc tagtgataat aactctttca accaattgcc aataaaaaaa
     6241 ttttgaatct acctataacc tggaacctcc ctgctccacc ttcgagttgt cctacctttc
     6301 tggacagaag caatgtggat cttgcatgta tttgattgat gtctcatgtc tccctaaaat
     6361 gtatacaatt aggctgtgcc cagatcaccc tgggcacatg ttctcaggcc ctcctgaggt
     6421 ctctgtctcg ggccattggt cactcagatt cggctcagaa taaatctctt caaatatt
//
