LOCUS       NM_001308190            2528 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens glycophorin A (MNS blood group) (GYPA), transcript
            variant 3, mRNA.
ACCESSION   NM_001308190
VERSION     NM_001308190.2
KEYWORDS    RefSeq.
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 2528)
  AUTHORS   Marshall,J.N., Klein,M.N., Karki,P., Promnares,K., Setua,S.,
            Fan,X., Buehler,P.W., Birukov,K.G., Vasta,G.R. and Fontaine,M.J.
  TITLE     Aberrant GPA expression and regulatory function of red blood cells
            in sickle cell disease
  JOURNAL   Blood Adv 8 (7), 1687-1697 (2024)
   PUBMED   38231087
  REMARK    GeneRIF: Aberrant GPA expression and regulatory function of red
            blood cells in sickle cell disease.
REFERENCE   2  (bases 1 to 2528)
  AUTHORS   Suwanwootichai,P., Lopez,G.H., Emthip,M., Wilson,B., Millard,G.M.,
            Onpuns,S., Laemsri,K., Bejrachandra,S. and Liew,Y.W.
  TITLE     Fatal haemolytic transfusion reaction due to anti-Ena and
            identification of a novel GYPA c.295delG variant in a Thai family
  JOURNAL   Vox Sang 117 (11), 1327-1331 (2022)
   PUBMED   36102166
  REMARK    GeneRIF: Fatal haemolytic transfusion reaction due to anti-En[a]
            and identification of a novel GYPA c.295delG variant in a Thai
            family.
REFERENCE   3  (bases 1 to 2528)
  AUTHORS   Vallese,F., Kim,K., Yen,L.Y., Johnston,J.D., Noble,A.J., Cali,T.
            and Clarke,O.B.
  TITLE     Architecture of the human erythrocyte ankyrin-1 complex
  JOURNAL   Nat Struct Mol Biol 29 (7), 706-718 (2022)
   PUBMED   35835865
REFERENCE   4  (bases 1 to 2528)
  AUTHORS   Liang,Y., Ren,J., Zhong,F., Hong,W., Su,Y., Wu,F., Liang,S.,
            Liu,J., Fang,S., Liang,Y., Fan,X., Lin,J., Liu,Y., Feng,B. and
            Xu,Y.
  TITLE     Characterization of alternatively spliced transcript variants of
            glycophorin A and glycophorin B genes in Chinese blood donors
  JOURNAL   Vox Sang 117 (5), 715-723 (2022)
   PUBMED   35138639
  REMARK    GeneRIF: Characterization of alternatively spliced transcript
            variants of glycophorin A and glycophorin B genes in Chinese blood
            donors.
REFERENCE   5  (bases 1 to 2528)
  AUTHORS   Shih,M.C., Yang,L.H., Wang,N.M. and Chang,J.G.
  TITLE     Genomic typing of human red cell miltenberger glycophorins in a
            Taiwanese population
  JOURNAL   Transfusion 40 (1), 54-61 (2000)
   PUBMED   10644812
REFERENCE   6  (bases 1 to 2528)
  AUTHORS   Hassoun,H., Hanada,T., Lutchman,M., Sahr,K.E., Palek,J., Hanspal,M.
            and Chishti,A.H.
  TITLE     Complete deficiency of glycophorin A in red blood cells from mice
            with targeted inactivation of the band 3 (AE1) gene
  JOURNAL   Blood 91 (6), 2146-2151 (1998)
   PUBMED   9490702
REFERENCE   7  (bases 1 to 2528)
  AUTHORS   Huang,C.H., Skov,F., Daniels,G., Tippett,P. and Blumenfeld,O.O.
  TITLE     Molecular analysis of human glycophorin MiIX gene shows a silent
            segment transfer and untemplated mutation resulting from gene
            conversion via sequence repeats
  JOURNAL   Blood 80 (9), 2379-2387 (1992)
   PUBMED   1421409
REFERENCE   8  (bases 1 to 2528)
  AUTHORS   Huang,C.H., Spruell,P., Moulds,J.J. and Blumenfeld,O.O.
  TITLE     Molecular basis for the human erythrocyte glycophorin specifying
            the Miltenberger class I (MiI) phenotype
  JOURNAL   Blood 80 (1), 257-263 (1992)
   PUBMED   1611092
REFERENCE   9  (bases 1 to 2528)
  AUTHORS   Lemmon,M.A., Flanagan,J.M., Hunt,J.F., Adair,B.D., Bormann,B.J.,
            Dempsey,C.E. and Engelman,D.M.
  TITLE     Glycophorin A dimerization is driven by specific interactions
            between transmembrane alpha-helices
  JOURNAL   J Biol Chem 267 (11), 7683-7689 (1992)
   PUBMED   1560003
REFERENCE   10 (bases 1 to 2528)
  AUTHORS   Tomita,M. and Marchesi,V.T.
  TITLE     Amino-acid sequence and oligosaccharide attachment sites of human
            erythrocyte glycophorin
  JOURNAL   Proc Natl Acad Sci U S A 72 (8), 2964-2968 (1975)
   PUBMED   1059087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA539682.1, EU338234.1,
            BG497403.1, AC107223.5, BX649043.1 and AI123404.1.
            
            On May 31, 2019 this sequence version replaced NM_001308190.1.
            
            Summary: Glycophorins A (GYPA) and B (GYPB) are major
            sialoglycoproteins of the human erythrocyte membrane which bear the
            antigenic determinants for the MN and Ss blood groups. In addition
            to the M or N and S or s antigens that commonly occur in all
            populations, about 40 related variant phenotypes have been
            identified. These variants include all the variants of the
            Miltenberger complex and several isoforms of Sta, as well as Dantu,
            Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the
            variants are the result of gene recombinations between GYPA and
            GYPB. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon compared to variant 1. It encodes isoform 3, which is shorter
            than isoform 1.
            
            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 :: BU657007.1, EU338234.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267766 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                DA539682.1         70-113
            45-487              EU338234.1         5-447
            488-659             BG497403.1         100-271
            660-660             AC107223.5         9611-9611           c
            661-1015            BX649043.1         712-1066
            1016-1027           AC107223.5         9244-9255           c
            1028-1773           BX649043.1         1067-1812
            1774-1777           AC107223.5         8494-8497           c
            1778-2282           BX649043.1         1818-2322
            2283-2283           AC107223.5         7988-7988           c
            2284-2523           BX649043.1         2324-2563
            2524-2528           AI123404.1         11-15               c
FEATURES             Location/Qualifiers
     source          1..2528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..2528
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="glycophorin A (MNS blood group)"
                     /db_xref="GeneID:2993"
                     /db_xref="HGNC:HGNC:4702"
                     /db_xref="MIM:617922"
     exon            1..120
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..437
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; glycophorin A (MN blood group); glycophorin A
                     transcript; glycophorin SAT; glycophorin A, GPA;
                     erythroid-lineage-specific membrane sialoglycoprotein;
                     glycophorin MiI; glycophorin MiV; glycophorin Erik;
                     glycophorin Sta type C; recombinant glycophorin A-B
                     Miltenberger-DR; Mi.V glycoprotein (24 AA); MN
                     sialoglycoprotein; sialoglycoprotein alpha"
                     /codon_start=1
                     /product="glycophorin-A isoform 3 precursor"
                     /protein_id="NP_001295119.1"
                     /db_xref="CCDS:CCDS82959.1"
                     /db_xref="GeneID:2993"
                     /db_xref="HGNC:HGNC:4702"
                     /db_xref="MIM:617922"
                     /translation="MYGKIIFVLLLSDTHKRDTYAATPRAHEVSEISVRTVYPPEEET
                     GERVQLAHHFSEPEITLIIFGVMAGVIGTILLISYGIRRLIKKSPSDVKPLPSPDTDV
                     PLSSVEIENPETSDQ"
     exon            121..216
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            217..255
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            256..341
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            342..420
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            421..2528
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1624..1629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="hexamer: ATTAAA"
     polyA_site      1649
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="major polyA site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="hexamer: AAGAAA"
     polyA_site      2528
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="major polyA site"
ORIGIN      
        1 aggctaaggt cagacactga cacttgcagt tgtctttggt agtttttttg cactaacttc
       61 aggaaccagc tcatgatctc aggatgtatg gaaaaataat ctttgtatta ctattgtcag
      121 atacgcacaa acgggacaca tatgcagcca ctcctagagc tcatgaagtt tcagaaattt
      181 ctgttagaac tgtttaccct ccagaagagg aaaccggaga aagggtacaa cttgcccatc
      241 atttctctga accagagata acactcatta tttttggggt gatggctggt gttattggaa
      301 cgatcctctt aatttcttac ggtattcgcc gactgataaa gaaaagccca tctgatgtaa
      361 aacctctccc ctcacctgac acagacgtgc ctttaagttc tgttgaaata gaaaatccag
      421 agacaagtga tcaatgagaa tctgttcacc aaaccaaatg tggaaagaac acaaagaaga
      481 cataagactt cagtcaagtg aaaaattaac atgtggactg gacactccaa taaattatat
      541 acctgcctaa gttgtacaat ttcagaatgc aattttcatt ataatgagtt ccagtgactc
      601 aatgatgggg aaaaaaatct ctgctcatta atatttcaag ataaagaaca aatgtttcct
      661 tgaatgcttg cttttgtgtg ttagcataat ttttagaatt gtttgagaat tctgatccaa
      721 aactttagtt gaattcatct acgtttgttt aatattaact taacctattc tattgtatta
      781 taatgatgat tctgtcaaat gaaaggcttg aaatacctag atgaagttta gattttcttc
      841 ctattgtaaa cttttgagtc tggtttcatt gttttaaata aattaagggg acactaaagt
      901 cctatcattc atttccttca ttgctgaaca ggcaagatat aatattacat gaatgattac
      961 tatattttgt tcacactaat aaagcttatg ctcagaaatg ccatacacac acacacacac
     1021 acacacaaac acacacattt atcatttaat gcataaatca acacaaaagg ttttcccatt
     1081 aatatgaaat attacatata tataagtgcc atatttaaaa taatttgtct aacagtagaa
     1141 ctgtgtcgga gcactcactg aagcttgcat tccactgaaa gagttatttg tgtaagtaga
     1201 gtatccggag aaggaaaaga acttacgacc tttctttata acagaaactc aactctaaat
     1261 tcaacaagat gtgcaaaccg gacatgcagg tgaatatttt aataggttac tataaggttc
     1321 tcaattaaat tctttaatct gtccagtccc agtttctctt attaataaaa ctttggaaat
     1381 tgctttaaac catttaaagg aaatttctag atatagaaac taaggactgt gactatacag
     1441 ctgtcactca tttgtagtaa aacttaaaaa gcaaaaacaa aaaacaaaaa agaccttcct
     1501 gtgatacttt atttccgaac taataaaaat ctatatgact ttttattatt gtgtgataac
     1561 caagtaaatg ttttctattt tgcatatttt caggcatggt aacagaaatt taccttttaa
     1621 taaattaaaa aatctaaatt ttaacctact tgtatgttcg gagagtgttt ttgtactata
     1681 ttgactactt aaaatagaga atgagactaa gaagggaaca tttctgttga tacatgtttt
     1741 ttaaaagtaa ttttaagagc attattaggt taattaatcc aattaatgac ccaaatgcca
     1801 aggtaatttt aaatttacat ttttaataaa agcaacatgt tgaaacaaga gagggtgaga
     1861 ttaacctttt tgctaaagta atttacaagt caaagacagg aagagatcag agtgaatgtg
     1921 ccttcttaac cagagctaca gaatttagtg aataattaaa gtacaaactg ctttgacctc
     1981 cttgaacttt tccaagcaat ttctctgtac ttctatatat gaatgtctta gccaattttc
     2041 tgctactata acagaatacg acagactggg taatttaaaa agaaaagaaa tttattttct
     2101 tcctagttct ggaggctggg aaggcgaagg gcatggcact gacatctgcc ttgtaactga
     2161 tgagaacctt cttactgcat gataacaaag cagcaaggca agcaaaagcg taagatgaag
     2221 agagaggaaa tgaagccaaa cacatccttt catcagaagc ccattccctc tataaggcgt
     2281 tattacattt atgagaatgg agtcctcatg acctaatcgt gaccttaaag gcccctccca
     2341 acactgttac aatggcaatt aaatttcaac aaaggttcca gaggtgacat tcgaatcagc
     2401 aatgaaattt tcatagttaa atttggtatt cgtgggggaa gaaatgacca tttcccttgt
     2461 atttttataa ttaaatcagc aaaatattgt aataaagaaa tctttcctgt gaagatacca
     2521 tgacccca
//
