LOCUS       NM_017436               2092 bp    mRNA    linear   PRI 23-APR-2024
DEFINITION  Homo sapiens alpha 1,4-galactosyltransferase (P1PK blood group)
            (A4GALT), transcript variant 1, mRNA.
ACCESSION   NM_017436
VERSION     NM_017436.7
KEYWORDS    RefSeq; MANE 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 2092)
  AUTHORS   Mo,C., Jia,S., Luo,G. and Ji,Y.
  TITLE     Identification of a novel A4GALT*299A allele associated with the
            rare p phenotype in one Chinese family
  JOURNAL   Transfusion 64 (4), E13-E15 (2024)
   PUBMED   38501748
  REMARK    GeneRIF: Identification of a novel A4GALT*299A allele associated
            with the rare p phenotype in one Chinese family.
REFERENCE   2  (bases 1 to 2092)
  AUTHORS   Jia,S., Li,S., Liao,Z., Mo,C., Fang,Q., Luo,G. and Ji,Y.
  TITLE     Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548)
            in two Chinese sisters with a history of recurrent spontaneous
            abortion
  JOURNAL   Transfusion 62 (9), E52-E54 (2022)
   PUBMED   35929100
  REMARK    GeneRIF: Identification of a novel P1PK allele
            (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history
            of recurrent spontaneous abortion.
REFERENCE   3  (bases 1 to 2092)
  AUTHORS   Mikolajczyk,K., Bereznicka,A., Szymczak-Kulus,K.,
            Haczkiewicz-Lesniak,K., Szulc,B., Olczak,M., Rossowska,J.,
            Majorczyk,E., Kapczynska,K., Bovin,N., Lisowska,M., Kaczmarek,R.,
            Miazek,A. and Czerwinski,M.
  TITLE     Missing the sweet spot: one of the two N-glycans on human Gb3/CD77
            synthase is expendable
  JOURNAL   Glycobiology 31 (9), 1145-1162 (2021)
   PUBMED   33978735
  REMARK    GeneRIF: Missing the sweet spot: one of the two N-glycans on human
            Gb3/CD77 synthase is expendable.
REFERENCE   4  (bases 1 to 2092)
  AUTHORS   Szymczak-Kulus,K., Weidler,S., Bereznicka,A., Mikolajczyk,K.,
            Kaczmarek,R., Bednarz,B., Zhang,T., Urbaniak,A., Olczak,M.,
            Park,E.Y., Majorczyk,E., Kapczynska,K., Lukasiewicz,J., Wuhrer,M.,
            Unverzagt,C. and Czerwinski,M.
  TITLE     Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans,
            which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry
  JOURNAL   J Biol Chem 296, 100299 (2021)
   PUBMED   33460651
  REMARK    GeneRIF: Human Gb3/CD77 synthase produces P1 glycotope-capped
            N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell
            entry.
REFERENCE   5  (bases 1 to 2092)
  AUTHORS   Hellberg,A., Chester,M.A. and Olsson,M.L.
  TITLE     Two previously proposed P1/P2-differentiating and nine novel
            polymorphisms at the A4GALT (Pk) locus do not correlate with the
            presence of the P1 blood group antigen
  JOURNAL   BMC Genet 6, 49 (2005)
   PUBMED   16212661
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2092)
  AUTHORS   Iwamura,K., Furukawa,K., Uchikawa,M., Sojka,B.N., Kojima,Y.,
            Wiels,J., Shiku,H., Urano,T. and Furukawa,K.
  TITLE     The blood group P1 synthase gene is identical to the Gb3/CD77
            synthase gene. A clue to the solution of the P1/P2/p puzzle
  JOURNAL   J Biol Chem 278 (45), 44429-44438 (2003)
   PUBMED   12888565
  REMARK    GeneRIF: results strongly suggested that P1 synthase is identical
            to Gb3/CD77 synthase
REFERENCE   7  (bases 1 to 2092)
  AUTHORS   Keusch,J.J., Manzella,S.M., Nyame,K.A., Cummings,R.D. and
            Baenziger,J.U.
  TITLE     Cloning of Gb3 synthase, the key enzyme in globo-series
            glycosphingolipid synthesis, predicts a family of alpha 1,
            4-glycosyltransferases conserved in plants, insects, and mammals
  JOURNAL   J Biol Chem 275 (33), 25315-25321 (2000)
   PUBMED   10854428
REFERENCE   8  (bases 1 to 2092)
  AUTHORS   Steffensen,R., Carlier,K., Wiels,J., Levery,S.B., Stroud,M.,
            Cedergren,B., Nilsson Sojka,B., Bennett,E.P., Jersild,C. and
            Clausen,H.
  TITLE     Cloning and expression of the histo-blood group Pk UDP-galactose:
            Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular
            genetic basis of the p phenotype
  JOURNAL   J Biol Chem 275 (22), 16723-16729 (2000)
   PUBMED   10747952
REFERENCE   9  (bases 1 to 2092)
  AUTHORS   Kojima,Y., Fukumoto,S., Furukawa,K., Okajima,T., Wiels,J.,
            Yokoyama,K., Suzuki,Y., Urano,T., Ohta,M. and Furukawa,K.
  TITLE     Molecular cloning of globotriaosylceramide/CD77 synthase, a
            glycosyltransferase that initiates the synthesis of globo series
            glycosphingolipids
  JOURNAL   J Biol Chem 275 (20), 15152-15156 (2000)
   PUBMED   10748143
REFERENCE   10 (bases 1 to 2092)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY140390.1, BC017068.2 and
            AB037883.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017436.6.
            
            Summary: The protein encoded by this gene catalyzes the transfer of
            galactose to lactosylceramide to form globotriaosylceramide, which
            has been identified as the P(k) antigen of the P blood group
            system. This protein, a type II membrane protein found in the
            Golgi, is also required for the synthesis of the bacterial
            verotoxins receptor. Alternatively spliced transcript variants have
            been found for this gene. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) encodes the supported protein.
            Variants 1 and 2 encode the same protein.
            
            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##
            Transcript exon combination :: BC017068.2, SRR1163657.514031.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642412.2/ ENSP00000494127.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                HY140390.1         42-90
            50-1957             BC017068.2         9-1916
            1958-2092           AB037883.1         1830-1964
FEATURES             Location/Qualifiers
     source          1..2092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2092
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /note="alpha 1,4-galactosyltransferase (P1PK blood group)"
                     /db_xref="GeneID:53947"
                     /db_xref="HGNC:HGNC:18149"
                     /db_xref="MIM:607922"
     exon            1..74
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /inference="alignment:Splign:2.1.0"
     exon            75..215
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /inference="alignment:Splign:2.1.0"
     exon            216..2092
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /inference="alignment:Splign:2.1.0"
     CDS             262..1323
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /EC_number="2.4.1.228"
                     /note="P blood group (P one antigen); GB3 synthase; P one
                     antigen (P blood group); alpha-1,4-galactosyltransferase;
                     globotriaosylceramide synthase; CD77 synthase; P(k)
                     antigen synthase; P1/Pk synthase;
                     alpha-1,4-N-acetylglucosaminyltransferase; alpha4Gal-T1;
                     UDP-galactose:beta-D-galactosyl-beta1-R
                     4-alpha-D-galactosyltransferase; alpha
                     1,4-galactosyltransferase (P blood group); alpha
                     14-galactosyltransferase"
                     /codon_start=1
                     /product="lactosylceramide 4-alpha-galactosyltransferase"
                     /protein_id="NP_059132.1"
                     /db_xref="CCDS:CCDS14041.1"
                     /db_xref="GeneID:53947"
                     /db_xref="HGNC:HGNC:18149"
                     /db_xref="MIM:607922"
                     /translation="MSKPPDLLLRLLRGAPRQRVCTLFIIGFKFTFFVSIMIYWHVVG
                     EPKEKGQLYNLPAEIPCPTLTPPTPPSHGPTPGNIFFLETSDRTNPNFLFMCSVESAA
                     RTHPESHVLVLMKGLPGGNASLPRHLGISLLSCFPNVQMLPLDLRELFRDTPLADWYA
                     AVQGRWEPYLLPVLSDASRIALMWKFGGIYLDTDFIVLKNLRNLTNVLGTQSRYVLNG
                     AFLAFERRHEFMALCMRDFVDHYNGWIWGHQGPQLLTRVFKKWCSIRSLAESRACRGV
                     TTLPPEAFYPIPWQDWKKYFEDINPEELPRLLSATYAVHVWNKKSQGTRFEATSRALL
                     AQLHARYCPTTHEAMKMYL"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /note="hexamer: AATAAA"
     polyA_site      2092
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /note="major polyA site"
ORIGIN      
        1 actgccctcc ggccgccgcg ccgcccgccc gccggggccc cgctgtccgc cgcccgccgc
       61 cgctggagct agagatggat ttgcagccgc tgcaagtgtg tggaagggcc gtgttcgtgt
      121 tggcaaagaa ggtcggctgc tgagccaggg cgtgtctccc ggaggcctgt gggctgccag
      181 gatccccacc tctctgcaat gggctgccca ggctgaccag ccggttcctg ctggaagctc
      241 ctggtctgat ctggggatac catgtccaag ccccccgacc tcctgctgcg gctgctccgg
      301 ggcgccccaa ggcagcgggt ctgcaccctg ttcatcatcg gcttcaagtt cacgtttttc
      361 gtctccatca tgatctactg gcacgttgtg ggagagccca aggagaaagg gcagctctat
      421 aacctgccag cagagatccc ctgccccacc ttgacacccc ccaccccacc ctcccacggc
      481 cccactccag gcaacatctt cttcctggag acttcagacc ggaccaaccc caacttcctg
      541 ttcatgtgct cggtggagtc ggccgccaga actcaccccg aatcccacgt gctggtcctg
      601 atgaaagggc ttccgggtgg caacgcctct ctgccccggc acctgggcat ctcacttctg
      661 agctgcttcc cgaatgtcca gatgctcccg ctggacctgc gggagctgtt ccgggacaca
      721 cccctggccg actggtacgc ggccgtgcag gggcgctggg agccctacct gctgcccgtg
      781 ctctccgacg cctccaggat cgcactcatg tggaagttcg gcggcatcta cctggacacg
      841 gacttcattg ttctcaagaa cctgcggaac ctgaccaacg tgctgggcac ccagtcccgc
      901 tacgtcctca acggcgcgtt cctggccttc gagcgccggc acgagttcat ggcgctgtgc
      961 atgcgggact tcgtggacca ctacaacggc tggatctggg gtcaccaggg cccgcagctg
     1021 ctcacgcggg tcttcaagaa gtggtgttcc atccgcagcc tggccgagag ccgcgcctgc
     1081 cgcggcgtca ccaccctgcc ccctgaggcc ttctacccca tcccctggca ggactggaag
     1141 aagtactttg aggacatcaa ccccgaggag ctgccgcggc tgctcagtgc cacctatgct
     1201 gtccacgtgt ggaacaagaa gagccagggc acgcggttcg aggccacgtc cagggcactg
     1261 ctggcccagc tgcatgcccg ctactgcccc acgacgcacg aggccatgaa aatgtacttg
     1321 tgaggggccc gccaggtcac ctccccaacc tgctcctgat ggggcactgg gccgcccttc
     1381 ccggggaggc aagattgagg gcccgggaga gggaggcccg agctgccacc gggcttaggc
     1441 aggctgttga ggagctgtgg gagcaggccc agtgggaggc tgtggacacc ccgaggacag
     1501 tgtcctgtct cgaggcaggg ctgacacatg gtgccatagc cagcggaggg cgctcagtga
     1561 gtgccccggg ccttctagac aacaggcagg aaggatgaac ctcagggcac ccccaggtgg
     1621 tgcggaaagc caggcagttg ggacagaggt gcccacgagg gcagaggccg gtgctaaggg
     1681 gatggggaag aagggacaag attcccagag aggagaggag gctgttggta ggaaagtggc
     1741 agggctgggg gagacccagc cccaagggtc cggggcggag gatgctttgt tcttttctgg
     1801 ttttggttcc tctttcgcgg ggggtggggg aggtcaacag ggactgagtg gggcagaggc
     1861 ccagaagtgc cagcctgggg agccgtttgg gggcagcccc ttctgcccac cccatccttc
     1921 ttcctctcca gagatgccag gggggcgtgt atgctctgcc ccttccctca gacaggggct
     1981 gggtggggag gctctttagg ctcaggagaa gcattttaaa gaaaccccca ccctgccgcc
     2041 cgcattataa acacaggaga ataatcaata gaataaaagt gaccgactgt ca
//
