LOCUS       NM_002099               2627 bp    mRNA    linear   PRI 29-NOV-2024
DEFINITION  Homo sapiens glycophorin A (MNS blood group) (GYPA), transcript
            variant 1, mRNA.
ACCESSION   NM_002099
VERSION     NM_002099.8
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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 2627)
  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 AK290561.1, X08054.1,
            AC107223.5 and AI123404.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002099.7.
            
            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 (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Sequence Note: This RefSeq record represents the GYPA*0010101
            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##
            Transcript exon combination :: L31860.1, X51798.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1970526,
                                           SAMEA2142853 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641688.3/ ENSP00000493142.2
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                AK290561.1         34-60
            28-610              X08054.1           1-583
            611-2540            AC107223.5         7830-9759           c
            2541-2627           AI123404.1         11-97               c
FEATURES             Location/Qualifiers
     source          1..2627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..2627
                     /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..536
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1 precursor"
                     /protein_id="NP_002090.4"
                     /db_xref="CCDS:CCDS34069.1"
                     /db_xref="GeneID:2993"
                     /db_xref="HGNC:HGNC:4702"
                     /db_xref="MIM:617922"
                     /translation="MYGKIIFVLLLSEIVSISALSTTEVAMHTSTSSSVTKSYISSQT
                     NDTHKRDTYAATPRAHEVSEISVRTVYPPEEETGERVQLAHHFSEPEITLIIFGVMAG
                     VIGTILLISYGIRRLIKKSPSDVKPLPSPDTDVPLSSVEIENPETSDQ"
     exon            121..219
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            220..315
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            316..354
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            355..440
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            441..519
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            520..2627
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1723..1728
                     /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      1748
                     /gene="GYPA"
                     /gene_synonym="CD235a; GPA; GPErik; GPSAT; HGpMiV;
                     HGpMiXI; HGpSta(C); MN; MNS; PAS-2"
                     /note="major polyA site"
     regulatory      2594..2599
                     /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      2627
                     /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 aaattgtgag catatcagca ttaagtacca ctgaggtggc aatgcacact tcaacttctt
      181 cttcagtcac aaagagttac atctcatcac agacaaatga tacgcacaaa cgggacacat
      241 atgcagccac tcctagagct catgaagttt cagaaatttc tgttagaact gtttaccctc
      301 cagaagagga aaccggagaa agggtacaac ttgcccatca tttctctgaa ccagagataa
      361 cactcattat ttttggggtg atggctggtg ttattggaac gatcctctta atttcttacg
      421 gtattcgccg actgataaag aaaagcccat ctgatgtaaa acctctcccc tcacctgaca
      481 cagacgtgcc tttaagttct gttgaaatag aaaatccaga gacaagtgat caatgagaat
      541 ctgttcacca aaccaaatgt ggaaagaaca caaagaagac ataagacttc agtcaagtga
      601 aaaattaaca tgtggactgg acactccaat aaattatata cctgcctaag ttgtacaatt
      661 tcagaatgca attttcatta taatgagttc cagtgactca atgatgggga aaaaaatctc
      721 tgctcattaa tatttcaaga taaagaacaa atgtttcctt gaatgcttgc ttttgtgtgt
      781 tagcataatt tttagaattg tttgagaatt ctgatccaaa actttagttg aattcatcta
      841 cgtttgttta atattaactt aacctattct attgtattat aatgatgatt ctgtcaaatg
      901 aaaggcttga aatacctaga tgaagtttag attttcttcc tattgtaaac ttttgagtct
      961 ggtttcattg ttttaaataa attaagggga cactaaagtc ctatcattca tttccttcat
     1021 tgctgaacag gcaagatata atattacatg aatgattact atattttgtt cacactaata
     1081 aagcttatgc tcagaaatgc catacacaca cacacacaca cacacaaaca cacacattta
     1141 tcatttaatg cataaatcaa cacaaaaggt tttcccatta atatgaaata ttacatatat
     1201 ataagtgcca tatttaaaat aatttgtcta acagtagaac tgtgtcggag cactcactga
     1261 agcttgcatt ccactgaaag agttatttgt gtaagtagag tatccggaga aggaaaagaa
     1321 cttacgacct ttctttataa cagaaactca actctaaatt caacaagatg tgcaaaccgg
     1381 acatgcaggt gaatatttta ataggttact ataaggttct caattaaatt ctttaatctg
     1441 tccagtccca gtttctctta ttaataaaac tttggaaatt gctttaaacc atttaaagga
     1501 aatttctaga tatagaaact aaggactgtg actatacagc tgtcactcat ttgtagtaaa
     1561 acttaaaaag caaaaacaaa aaacaaaaaa gaccttcctg tgatacttta tttccgaact
     1621 aataaaaatc tatatgactt tttattattg tgtgataacc aagtaaatgt tttctatttt
     1681 gcatattttc aggcatggta acagaaattt accttttaat aaattaaaaa atctaaattt
     1741 taacctactt gtatgttcgg agagtgtttt tgtactatat tgactactta aaatagagaa
     1801 tgagactaag aagggaacat ttctgttgat acatgttttt taaaagtaat tttaagagca
     1861 ttattaggtt aattaatcca attaatgacc caaatgccaa ggtaatttta aatttacatt
     1921 tttaataaaa gcaacatgtt gaaacaagag agggtgagat taaccttttt gctaaagtaa
     1981 tttacaagtc aaagacagga agagatcaga gtgaatgtgc cttcttaacc agagctacag
     2041 aatttagtga ataattaaag tacaaactgc tttgacctcc ttgaactttt ccaagcaatt
     2101 tctctgtact tctatatatg aatgtcttag ccaattttct gctactataa cagaatacga
     2161 cagactgggt aatttaaaaa gaaaagaaat ttattttctt cctagttctg gaggctggga
     2221 aggcgaaggg catggcactg acatctgcct tgtaactgat gagaaccttc ttactgcatg
     2281 ataacaaagc agcaaggcaa gcaaaagcgt aagatgaaga gagaggaaat gaagccaaac
     2341 acatcctttc atcagaagcc cattccctct ataaggcgtt attacattta tgagaatgga
     2401 gtcctcatga cctaatcgtg accttaaagg cccctcccaa cactgttaca atggcaatta
     2461 aatttcaaca aaggttccag aggtgacatt cgaatcagca atgaaatttt catagttaaa
     2521 tttggtattc gtgggggaag aaatgaccat ttcccttgta tttttataat taaatcagca
     2581 aaatattgta ataaagaaat ctttcctgtg aagataccat gacccca
//
