LOCUS       NM_002100                564 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens glycophorin B (MNS blood group) (GYPB), transcript
            variant 1, mRNA.
ACCESSION   NM_002100 XM_003403778
VERSION     NM_002100.6
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 564)
  AUTHORS   Wei,L., Zhu,S., Wen,J., Liao,Z., Luo,G. and Ji,Y.
  TITLE     The study of variant s antigen expression revealing a novel
            c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with
            partial s phenotype
  JOURNAL   Transfusion 64 (2), 380-387 (2024)
   PUBMED   38158881
  REMARK    GeneRIF: The study of variant s antigen expression revealing a
            novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated
            with partial s phenotype.
REFERENCE   2  (bases 1 to 564)
  AUTHORS   Lomas-Francis,C., Vege,S., Fuertes,J., Burgos,A., Tahiri,T.,
            Blackman,M., Gannett,M., Ochoa-Garay,G. and Westhoff,C.M.
  TITLE     Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles
  JOURNAL   Transfusion 63 (12), E59-E61 (2023)
   PUBMED   37921239
  REMARK    GeneRIF: Uncommon S-s-U+ phenotype encoded by two novel GYPB
            alleles.
REFERENCE   3  (bases 1 to 564)
  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 564)
  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 564)
  AUTHORS   Wang,X., Meng,X., Meng,L., Guo,Y., Li,Y., Yang,C., Pei,Z., Li,J.
            and Wang,F.
  TITLE     Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for
            atrial fibrillation and stroke: Analysis via the support vector
            machine neural network
  JOURNAL   J Cell Mol Med 26 (7), 2010-2022 (2022)
   PUBMED   35138035
  REMARK    GeneRIF: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1
            for atrial fibrillation and stroke: Analysis via the support vector
            machine neural network.
REFERENCE   6  (bases 1 to 564)
  AUTHORS   Blumenfeld,O.O. and Huang,C.H.
  TITLE     Molecular genetics of the glycophorin gene family, the antigens for
            MNSs blood groups: multiple gene rearrangements and modulation of
            splice site usage result in extensive diversification
  JOURNAL   Hum Mutat 6 (3), 199-209 (1995)
   PUBMED   8535438
  REMARK    Review article
REFERENCE   7  (bases 1 to 564)
  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   8  (bases 1 to 564)
  AUTHORS   Huang,C.H., Kikuchi,M., McCreary,J. and Blumenfeld,O.O.
  TITLE     Gene conversion confined to a direct repeat of the acceptor splice
            site generates allelic diversity at human glycophorin (GYP) locus
  JOURNAL   J Biol Chem 267 (5), 3336-3342 (1992)
   PUBMED   1737789
REFERENCE   9  (bases 1 to 564)
  AUTHORS   Huang,C.H. and Blumenfeld,O.O.
  TITLE     Identification of recombination events resulting in three hybrid
            genes encoding human MiV, MiV(J.L.), and Sta glycophorins
  JOURNAL   Blood 77 (8), 1813-1820 (1991)
   PUBMED   2015404
REFERENCE   10 (bases 1 to 564)
  AUTHORS   Rearden,A., Phan,H., Dubnicoff,T., Kudo,S. and Fukuda,M.
  TITLE     Identification of the crossing-over point of a hybrid gene encoding
            human glycophorin variant Sta. Similarity to the crossing-over
            point in haptoglobin-related genes
  JOURNAL   J Biol Chem 265 (16), 9259-9263 (1990)
   PUBMED   1971625
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093890.3, BC069310.1 and
            X08055.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 11, 2019 this sequence version replaced NM_002100.5.
            
            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. GYPB gene
            consists of 5 exons and has 97% sequence homology with GYPA from
            the 5' UTR to the coding sequence encoding the first 45 amino
            acids. 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; also, 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. Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: BC121077.1, J02982.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000502664.6/ ENSP00000427690.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AC093890.3         137170-137212       c
            44-343              BC069310.1         1-300
            344-344             AC093890.3         115391-115391       c
            345-511             BC069310.1         302-468
            512-564             X08055.1           555-607
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..564
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /note="glycophorin B (MNS blood group)"
                     /db_xref="GeneID:2994"
                     /db_xref="HGNC:HGNC:4703"
                     /db_xref="MIM:617923"
     exon            1..130
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..369
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; Ss blood group; glycophorin-B; GYPB/GYPA
                     fusion; glycophorin Hop; glycophorin B transcript; hybrid
                     glycophorin Kip; glycophorin A; glycophorin B blood group
                     antigen; sialoglycoprotein delta; SS-active
                     sialoglycoprotein; glycophorin B/glycophorin A fusion
                     protein; GYPB-A fusion; blood group system MNSs, St(a)
                     type E; blood group system MNSs, St(a) type F; GYPB-A-B
                     fusion; blood group system MNSs, Mur-like; glycophorin B,
                     blood group system Ss, S, Mit+; Ss sialoglycoprotein"
                     /codon_start=1
                     /product="glycophorin-B isoform 1 precursor"
                     /protein_id="NP_002091.4"
                     /db_xref="CCDS:CCDS54809.1"
                     /db_xref="GeneID:2994"
                     /db_xref="HGNC:HGNC:4703"
                     /db_xref="MIM:617923"
                     /translation="MYGKIIFVLLLSEIVSISALSTTEVAMHTSTSSSVTKSYISSQT
                     NGETGQLVHRFTVPAPVVIILIILCVMAGIIGTILLISYSIRRLIKA"
     exon            131..229
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            230..268
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            269..363
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            364..564
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      536..541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /note="hexamer: AATAAA"
     regulatory      542..547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /note="hexamer: AATAAA"
     polyA_site      553
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
     polyA_site      564
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /note="major polyA site"
ORIGIN      
        1 aacagctagt aggctaaggc cagacactga cacttgcagt tgtctttggt agtttttttg
       61 cactaacttc aggaaccagc tcatgatctc aggatgtatg gaaaaataat ctttgtatta
      121 ctattgtcag aaattgtgag catatcagca ttaagtacca ctgaggtggc aatgcacact
      181 tcaacctctt cttcagtcac aaagagttac atctcatcac agacaaatgg agaaacggga
      241 caacttgtcc atcgtttcac tgtaccagct cctgtagtga taatactcat tattttgtgt
      301 gtgatggctg gtattattgg aacgatcctc ttaatttctt acagtattcg ccgactgata
      361 aaggcatgag gatgtggcct gcatgctgcc tgatcttgcc tagaaccggc tgcacctgct
      421 gttctcttgt ttatgcaaac tggctgcacc tgctattcct ttgcttatgc ccctacccct
      481 ggctatccta attccctgtt ctcctgcctc actattactg tattctctac ttctaaataa
      541 aaataaaaca aaatacaaac cgtt
//
