LOCUS       NM_002101               1018 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript
            variant 1, mRNA.
ACCESSION   NM_002101 XM_940361
VERSION     NM_002101.5
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 1018)
  AUTHORS   Lin,J.J., Loucks,C.M., Trueman,J.N., Drogemoller,B.I.,
            Wright,G.E.B., Yoshida,E.M., Ford,J.A., Lee,S.S., Kim,R.B.,
            Al-Judaibi,B., Schwarz,U.I., Ramji,A., Tam,E., Ross,C.J. and
            Carleton,B.C.
  TITLE     Novel variant in glycophorin c gene protects against
            ribavirin-induced anemia during chronic hepatitis C treatment
  JOURNAL   Biomed Pharmacother 143, 112195 (2021)
   PUBMED   34562771
  REMARK    GeneRIF: Novel variant in glycophorin c gene protects against
            ribavirin-induced anemia during chronic hepatitis C treatment.
REFERENCE   2  (bases 1 to 1018)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1018)
  AUTHORS   Klei,T.R.L., de Back,D.Z., Asif,P.J., Verkuijlen,P.J.J.H.,
            Veldthuis,M., Ligthart,P.C., Berghuis,J., Clifford,E., Beuger,B.M.,
            van den Berg,T.K., van Zwieten,R., El Nemer,W. and van Bruggen,R.
  TITLE     Glycophorin-C sialylation regulates Lu/BCAM adhesive capacity
            during erythrocyte aging
  JOURNAL   Blood Adv 2 (1), 14-24 (2018)
   PUBMED   29344581
  REMARK    GeneRIF: Lu/BCAM-mediated binding to laminin-alpha5 is restricted
            by interacting, in cis, with glycophorin-C-derived sialic acid
            residues.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1018)
  AUTHORS   Lobo,C.A., Rodriguez,M., Reid,M. and Lustigman,S.
  TITLE     Glycophorin C is the receptor for the Plasmodium falciparum
            erythrocyte binding ligand PfEBP-2 (baebl)
  JOURNAL   Blood 101 (11), 4628-4631 (2003)
   PUBMED   12576308
  REMARK    GeneRIF: Glycophorin C is identified as the receptor for PfEBP-2,
            the erythrocyte binding ligand of Plasmodium falciparum, and the
            binding domain on GPC is determined to be amino acid residues 14
            through 22 within exon 2.
REFERENCE   5  (bases 1 to 1018)
  AUTHORS   Maier,A.G., Duraisingh,M.T., Reeder,J.C., Patel,S.S., Kazura,J.W.,
            Zimmerman,P.A. and Cowman,A.F.
  TITLE     Plasmodium falciparum erythrocyte invasion through glycophorin C
            and selection for Gerbich negativity in human populations
  JOURNAL   Nat Med 9 (1), 87-92 (2003)
   PUBMED   12469115
  REMARK    GeneRIF: Data show that the receptor for Plasmodium falciparum
            erythrocyte-binding antigen 140 (EBA140) is glycophorin C (GYPC)
            and that this interaction mediates a principal P. falciparum
            invasion pathway into human erythrocytes.
REFERENCE   6  (bases 1 to 1018)
  AUTHORS   King,M.J., Avent,N.D., Mallinson,G. and Reid,M.E.
  TITLE     Point mutation in the glycophorin C gene results in the expression
            of the blood group antigen Dha
  JOURNAL   Vox Sang 63 (1), 56-58 (1992)
   PUBMED   1413665
REFERENCE   7  (bases 1 to 1018)
  AUTHORS   Telen,M.J., Le Van Kim,C., Chung,A., Cartron,J.P. and Colin,Y.
  TITLE     Molecular basis for elliptocytosis associated with glycophorin C
            and D deficiency in the Leach phenotype
  JOURNAL   Blood 78 (6), 1603-1606 (1991)
   PUBMED   1884026
REFERENCE   8  (bases 1 to 1018)
  AUTHORS   Spring,F.A.
  TITLE     Immunochemical characterisation of the low-incidence antigen, Dha
  JOURNAL   Vox Sang 61 (1), 65-68 (1991)
   PUBMED   1719701
REFERENCE   9  (bases 1 to 1018)
  AUTHORS   Colin,Y., Le Van Kim,C., Tsapis,A., Clerget,M., d'Auriol,L.,
            London,J., Galibert,F. and Cartron,J.P.
  TITLE     Human erythrocyte glycophorin C. Gene structure and rearrangement
            in genetic variants
  JOURNAL   J Biol Chem 264 (7), 3773-3780 (1989)
   PUBMED   2917976
REFERENCE   10 (bases 1 to 1018)
  AUTHORS   Mattei,M.G., Colin,Y., Le Van Kim,C., Mattei,J.F. and Cartron,J.P.
  TITLE     Localization of the gene for human erythrocyte glycophorin C to
            chromosome 2, q14-q21
  JOURNAL   Hum Genet 74 (4), 420-422 (1986)
   PUBMED   3793105
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106051.1 and AC013474.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002101.4.
            
            Summary: Glycophorin C (GYPC) is an integral membrane glycoprotein.
            It is a minor species carried by human erythrocytes, but plays an
            important role in regulating the mechanical stability of red cells.
            A number of glycophorin C mutations have been described. The
            Gerbich and Yus phenotypes are due to deletion of exon 3 and 2,
            respectively. The Webb and Duch antigens, also known as glycophorin
            D, result from single point mutations of the glycophorin C gene.
            The glycophorin C protein has very little homology with
            glycophorins A and B. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) 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.
            
            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 :: BC106051.1, X12496.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259254.9/ ENSP00000259254.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-438               BC106051.1         56-493
            439-439             AC013474.10        186004-186004
            440-1018            BC106051.1         495-1073
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..1018
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /note="glycophorin C (Gerbich blood group)"
                     /db_xref="GeneID:2995"
                     /db_xref="HGNC:HGNC:4704"
                     /db_xref="MIM:110750"
     exon            1..155
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..493
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycophorin-D; glycoconnectin; glycoprotein beta;
                     sialoglycoprotein D; Gerbich blood group antigen; Gerbich
                     antigen"
                     /codon_start=1
                     /product="glycophorin-C isoform 1"
                     /protein_id="NP_002092.1"
                     /db_xref="CCDS:CCDS2136.1"
                     /db_xref="GeneID:2995"
                     /db_xref="HGNC:HGNC:4704"
                     /db_xref="MIM:110750"
                     /translation="MWSTRSPNSTAWPLSLEPDPGMASASTTMHTTTIAEPDPGMSGW
                     PDGRMETSTPTIMDIVVIAGVIAAVAIVLVSLLFVMLRYMYRHKGTYHTNEAKGTEFA
                     ESADAALQGDPALQDAGDSSRKEYFI"
     exon            156..212
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /inference="alignment:Splign:2.1.0"
     exon            213..296
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /inference="alignment:Splign:2.1.0"
     exon            297..1018
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /inference="alignment:Splign:2.1.0"
     regulatory      997..1002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /note="hexamer: AATAAA"
     polyA_site      1018
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /note="major polyA site"
ORIGIN      
        1 cctctcgccg ccgagggtca ggagcccggg agcgcgaccc tcccccggcc cggcctggcc
       61 cggcctggcc agtccccgcg gtctctgccc gggctgacgc ccaggaatgt ggtcgacgag
      121 aagccccaac agcacggcgt ggcctctcag cctcgagcct gatccgggga tggcctctgc
      181 ctccaccaca atgcatacta ccaccattgc agagcctgat ccagggatgt ctggatggcc
      241 ggatggcaga atggagacct ccacccccac cataatggac attgtcgtca ttgcaggtgt
      301 gattgctgct gtggccatcg tcctagtctc cctcctcttc gtcatgctgc gctacatgta
      361 ccggcacaag ggcacgtacc acaccaatga ggccaagggc acggagtttg ctgagagtgc
      421 agatgcagcc ctgcagggag accctgccct ccaagatgct ggtgatagca gcagaaagga
      481 gtactttatt tgagggacaa cagacttcac ttccctgaat gcctccccca tctccatcag
      541 gaaaaataca ccccatcgcc cagcacccct gctgatacca ccagacagag agagagagca
      601 cttgattctt cccgagatag ccacctggaa acactaggtg cctgcccagg gaggaacgga
      661 ggaggactcg cgctacaaga ggccactccc agggacccag ggaggcgatg gccaccccag
      721 aggccacctt ttgctccacg gaggtgggag aaaatctggg cacatggggc cccctgggca
      781 gtgcaggaca acatcagctc actggcagga aagtccttgt tgagggtgag ggggtgctgg
      841 ggtacccggg ggctggggaa gcaaggaaat aagtcatctg tatgctgact ggggataatg
      901 gcatcaaatg tcagtccttg acatttgggg ggaacagcag gtgccagagc taaaaggtac
      961 ctttgtctgc cattgatcca gctcagaacg attggaaata aatttgaaat gtaaccga
//
