LOCUS       NM_020485               1571 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens Rh blood group CcEe antigens (RHCE), transcript
            variant 1, mRNA.
ACCESSION   NM_020485 XM_001130486
VERSION     NM_020485.8
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 1571)
  AUTHORS   McGowan,E.C., Storry,J.R. and Olsson,M.L.
  TITLE     An intronic polymorphism associated with 2,3-bisphosphoglycerate
            levels in human red cells is linked to expression of RhCE blood
            groups
  JOURNAL   Proc Natl Acad Sci U S A 121 (36), e2412585121 (2024)
   PUBMED   39172775
  REMARK    GeneRIF: An intronic polymorphism associated with
            2,3-bisphosphoglycerate levels in human red cells is linked to
            expression of RhCE blood groups.
REFERENCE   2  (bases 1 to 1571)
  AUTHORS   D'Alessandro,A., Earley,E.J., Nemkov,T., Stephenson,D.,
            Dzieciatkowska,M., Hansen,K.C., Minetti,G., Champigneulle,B.,
            Stauffer,E., Pichon,A., Furian,M., Verges,S., Kleinman,S.,
            Norris,P.J., Busch,M.P., Page,G.P. and Kaestner,L.
  TITLE     Genetic polymorphisms and expression of Rhesus blood group RHCE are
            associated with 2,3-bisphosphoglycerate in humans at high altitude
  JOURNAL   Proc Natl Acad Sci U S A 121 (1), e2315930120 (2024)
   PUBMED   38147558
  REMARK    GeneRIF: Genetic polymorphisms and expression of Rhesus blood group
            RHCE are associated with 2,3-bisphosphoglycerate in humans at high
            altitude.
REFERENCE   3  (bases 1 to 1571)
  AUTHORS   Shao,L.N., Zheng,Z.W., Zhou,S.H., Zhang,S.T., Song,W.Q., Xia,Y.X.
            and Liang,X.H.
  TITLE     Polymorphisms in the promoter regions of RHD and RHCE genes in the
            Chinese Han population
  JOURNAL   Vox Sang 118 (11), 972-979 (2023)
   PUBMED   37823181
  REMARK    GeneRIF: Polymorphisms in the promoter regions of RHD and RHCE
            genes in the Chinese Han population.
REFERENCE   4  (bases 1 to 1571)
  AUTHORS   Arnoni,C.P., Vendrame,T.A.P., Silva,F.S., Cortez,A.J.P.,
            Latini,F.R.M. and Castilho,L.
  TITLE     RHCE variant alleles and risk of alloimmunization in Brazilians
  JOURNAL   Immunohematology 38 (4), 123-129 (2022)
   PUBMED   36789463
  REMARK    GeneRIF: RHCE variant alleles and risk of alloimmunization in
            Brazilians.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1571)
  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   6  (bases 1 to 1571)
  AUTHORS   Le van Kim,C., Mouro,I., Cherif-Zahar,B., Raynal,V., Cherrier,C.,
            Cartron,J.P. and Colin,Y.
  TITLE     Molecular cloning and primary structure of the human blood group
            RhD polypeptide
  JOURNAL   Proc Natl Acad Sci U S A 89 (22), 10925-10929 (1992)
   PUBMED   1438298
REFERENCE   7  (bases 1 to 1571)
  AUTHORS   Le Van Kim,C., Cherif-Zahar,B., Raynal,V., Mouro,I., Lopez,M.,
            Cartron,J.P. and Colin,Y.
  TITLE     Multiple Rh messenger RNA isoforms are produced by alternative
            splicing
  JOURNAL   Blood 80 (4), 1074-1078 (1992)
   PUBMED   1379850
REFERENCE   8  (bases 1 to 1571)
  AUTHORS   Cherif-Zahar,B., Mattei,M.G., Le Van Kim,C., Bailly,P.,
            Cartron,J.P. and Colin,Y.
  TITLE     Localization of the human Rh blood group gene structure to
            chromosome region 1p34.3-1p36.1 by in situ hybridization
  JOURNAL   Hum Genet 86 (4), 398-400 (1991)
   PUBMED   1900257
REFERENCE   9  (bases 1 to 1571)
  AUTHORS   Suyama,K., Goldstein,J., Aebersold,R. and Kent,S.
  TITLE     Regarding the size of Rh proteins
  JOURNAL   Blood 77 (2), 411 (1991)
   PUBMED   1898705
REFERENCE   10 (bases 1 to 1571)
  AUTHORS   Cherif-Zahar,B., Bloy,C., Le Van Kim,C., Blanchard,D., Bailly,P.,
            Hermand,P., Salmon,C., Cartron,J.P. and Colin,Y.
  TITLE     Molecular cloning and protein structure of a human blood group Rh
            polypeptide
  JOURNAL   Proc Natl Acad Sci U S A 87 (16), 6243-6247 (1990)
   PUBMED   1696722
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031284.9 and AL928711.18.
            
            On Apr 19, 2021 this sequence version replaced NM_020485.7.
            
            Summary: The Rh blood group system is the second most clinically
            significant of the blood groups, second only to ABO. It is also the
            most polymorphic of the blood groups, with variations due to
            deletions, gene conversions, and missense mutations. The Rh blood
            group includes this gene which encodes both the RhC and RhE
            antigens on a single polypeptide and a second gene which encodes
            the RhD protein. The classification of Rh-positive and Rh-negative
            individuals is determined by the presence or absence of the highly
            immunogenic RhD protein on the surface of erythrocytes. A mutation
            in this gene results in amorph-type Rh-null disease. Alternative
            splicing of this gene results in multiple transcript variants
            encoding several different isoforms. [provided by RefSeq, Aug
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform of
            this protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: JX420299.1, JX420298.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294413.13/ ENSP00000294413.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               AL031284.9         51324-51510         c
            188-374             AL031284.9         39368-39554         c
            375-525             AL031284.9         33281-33431         c
            526-673             AL031284.9         22679-22826         c
            674-840             AL031284.9         21434-21600         c
            841-978             AL031284.9         19661-19798         c
            979-1112            AL031284.9         16396-16529         c
            1113-1192           AL031284.9         6034-6113           c
            1193-1266           AL928711.18        104473-104546       c
            1267-1571           AL928711.18        96255-96559         c
FEATURES             Location/Qualifiers
     source          1..1571
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1571
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="Rh blood group CcEe antigens"
                     /db_xref="GeneID:6006"
                     /db_xref="HGNC:HGNC:10008"
                     /db_xref="MIM:111700"
     exon            1..187
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..1293
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Rhesus system C and E polypeptides; Rh blood group antigen
                     Evans; Rh blood group C antigen; Rh polypeptide I; RhCE
                     blood group antigen; blood group RhCE polypeptide; RhCE
                     blood group antigens; Rh blood group CcEe antigen cE_340T;
                     RhD antigen; silenced Rh blood group CcEe antigen; Rhesus
                     blood group antigen CE; Rhesus blood group CcEe antigen;
                     blood group protein RHCE; Rhesus blood group CE protein;
                     Rh blood group CE antigen; Rhesus blood group Rhce
                     antigen; Rhesus blood group E antigen; blood group Rh(CE)
                     polypeptide; blood group RhCcEe antigen; RHCE blood group
                     variant Crawford antigen Rh43; rh polypeptide 1; rhesus
                     C/E antigens; rhesus blood group little e antigen; rhesus
                     blood group antigen, RhC antigen; Rh blood group protein;
                     (C)ces type 1 Rhesus blood group D antigen; Rh blood group
                     D antigen; Rh blood group CcEe antigens RHCE_916G; blood
                     group Rh(CE) polypeptide 718G RHCE; blood group Rh(CE)
                     polypeptide 658C RHCE; blood group Rh(CE) polypeptide 225A
                     RHCE; blood group Rh(CE) polypeptide 347G RHCE; blood
                     group Rh(CE) polypeptide 537G RHCE; blood group Rh(CE)
                     polypeptide 999A RHCE; blood group Rh(CE) polypeptide 144G
                     RHCE; blood group Rh(CE) polypeptide 341A RHCE; RHCE*CeCw
                     blood group antigen"
                     /codon_start=1
                     /product="blood group Rh(CE) polypeptide isoform 1"
                     /protein_id="NP_065231.4"
                     /db_xref="CCDS:CCDS30635.1"
                     /db_xref="GeneID:6006"
                     /db_xref="HGNC:HGNC:10008"
                     /db_xref="MIM:111700"
                     /translation="MSSKYPRSVRRCLPLCALTLEAALILLFYFFTHYDASLEDQKGL
                     VASYQVGQDLTVMAALGLGFLTSNFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFP
                     PGKVVITLFSIRLATMSAMSVLISAGAVLGKVNLAQLVVMVLVEVTALGTLRMVISNI
                     FNTDYHMNLRHFYVFAAYFGLTVAWCLPKPLPKGTEDNDQRATIPSLSAMLGALFLWM
                     FWPSVNSALLRSPIQRKNAMFNTYYALAVSVVTAISGSSLAHPQRKISMTYVHSAVLA
                     GGVAVGTSCHLIPSPWLAMVLGLVAGLISIGGAKCLPVCCNRVLGIHHISVMHSIFSL
                     LGLLGEITYIVLLVLHTVWNGNGMIGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKI
                     WKAPHVAKYFDDQVFWKFPHLAVGF"
     exon            188..374
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            375..525
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            526..673
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            674..840
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            841..978
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1112
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1192
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1266
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1571
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1435..1440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="hexamer: ATTAAA"
     polyA_site      1457
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="major polyA site"
     regulatory      1478..1483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="hexamer: AATAAG"
     regulatory      1489..1494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="hexamer: AATAAA"
     polyA_site      1494
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="major polyA site"
     polyA_site      1512
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
     regulatory      1549..1554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="hexamer: ATTAAA"
     polyA_site      1571
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII; SLC42A4"
                     /note="major polyA site"
ORIGIN      
        1 ctggtgctgg tggaacccct gcacagagac ggacacagga tgagctctaa gtacccgcgg
       61 tctgtccggc gctgcctgcc cctctgcgcc ctaacactgg aagcagctct cattctcctc
      121 ttctattttt ttacccacta tgacgcttcc ttagaggatc aaaaggggct cgtggcatcc
      181 tatcaagtcg gccaagatct gaccgtgatg gcggcccttg gcttgggctt cctcacctca
      241 aatttccgga gacacagctg gagcagtgtg gccttcaacc tcttcatgct ggcgcttggt
      301 gtgcagtggg caatcctgct ggacggcttc ctgagccagt tccctcctgg gaaggtggtc
      361 atcacactgt tcagtattcg gctggccacc atgagtgcta tgtcggtgct gatctcagcg
      421 ggtgctgtct tggggaaggt caacttggcg cagttggtgg tgatggtgct ggtggaggtg
      481 acagctttag gcaccctgag gatggtcatc agtaatatct tcaacacaga ctaccacatg
      541 aacctgaggc acttctacgt gttcgcagcc tattttgggc tgactgtggc ctggtgcctg
      601 ccaaagcctc tacccaaggg aacggaggat aatgatcaga gagcaacgat acccagtttg
      661 tctgccatgc tgggcgccct cttcttgtgg atgttctggc caagtgtcaa ctctgctctg
      721 ctgagaagtc caatccaaag gaagaatgcc atgttcaaca cctactatgc tctagcagtc
      781 agtgtggtga cagccatctc agggtcatcc ttggctcacc cccaaaggaa gatcagcatg
      841 acttatgtgc acagtgcggt gttggcagga ggcgtggctg tgggtacctc gtgtcacctg
      901 atcccttctc cgtggcttgc catggtgctg ggtcttgtgg ctgggctgat ctccatcggg
      961 ggagccaagt gcctgccggt gtgttgtaac cgagtgctgg ggattcacca catctccgtc
     1021 atgcactcca tcttcagctt gctgggtctg cttggagaga tcacctacat tgtgctgctg
     1081 gtgcttcata ctgtctggaa cggcaatggc atgattggct tccaggtcct cctcagcatt
     1141 ggggaactca gcttggccat cgtgatagct ctcacgtctg gtctcctgac aggtttgctc
     1201 ctaaatctca aaatatggaa agcacctcat gtggctaaat attttgatga ccaagttttc
     1261 tggaagtttc ctcatttggc tgttggattt taagcaaaag catccaagaa aaacaaggcc
     1321 tgttcaaaaa caagacaact tcctctcact gttgcctgca tttgtacgtg agaaacgctc
     1381 atgacagcaa agtctcctta tgtataatga aacaaggtca gagacagatt tgatattaaa
     1441 aaattaaaga ctaaaaactt agtttaagag tcaatttaat aagtttaaaa taaatgttta
     1501 gtttcattag gatgatgcta tcaatatttt cttggttaca gacacattat taaagttttg
     1561 ggttaatttt a
//
