LOCUS       NM_016124               2814 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens Rh blood group D antigen (RHD), transcript variant 1,
            mRNA.
ACCESSION   NM_016124
VERSION     NM_016124.6
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 2814)
  AUTHORS   Altinoz Guney,C. and Koc,H.A.
  TITLE     Association of ABO and Rhesus blood groups with symptom emergence
            in scabies: a cross-sectional study
  JOURNAL   Arch Dermatol Res 316 (9), 624 (2024)
   PUBMED   39276265
  REMARK    GeneRIF: Association of ABO and Rhesus blood groups with symptom
            emergence in scabies: a cross-sectional study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2814)
  AUTHORS   Wang,P., Yang,Z., Wang,M., Wang,W. and Li,A.
  TITLE     [Molecular biology analysis of 2 rare RhD variant individuals with
            RHD*DEL37]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 56 (2), 352-356 (2024)
   PUBMED   38595257
  REMARK    GeneRIF: [Molecular biology analysis of 2 rare RhD variant
            individuals with RHD*DEL37].
REFERENCE   3  (bases 1 to 2814)
  AUTHORS   Wang,Y., Zhou,R., Hong,W.X., Wang,X., Zhang,Z., Gu,J., Wang,X.,
            Wu,C.L. and Shao,C.
  TITLE     Molecular and Family Analyses of a Novel RHD1058G>C Allele in a
            Chinese RhD Population
  JOURNAL   Clin Lab 70 (3) (2024)
   PUBMED   38469779
  REMARK    GeneRIF: Molecular and Family Analyses of a Novel RHD1058G>C Allele
            in a Chinese RhD Population.
REFERENCE   4  (bases 1 to 2814)
  AUTHORS   Wagner,F.F., Ladewig,B., Angert,K.S., Heymann,G.A., Eicher,N.I. and
            Flegel,W.A.
  TITLE     The DAU allele cluster of the RHD gene
  JOURNAL   Blood 100 (1), 306-311 (2002)
   PUBMED   12070041
  REMARK    GeneRIF: characterization of 5 new RHD alleles, dubbed DAU-0 to
            DAU-4, that share a T379M substitution and occurr in a cDe
            haplotype.
REFERENCE   5  (bases 1 to 2814)
  AUTHORS   Wagner,F.F. and Flegel,W.A.
  TITLE     RHCE represents the ancestral RH position, while RHD is the
            duplicated gene
  JOURNAL   Blood 99 (6), 2272-2273 (2002)
   PUBMED   11902138
  REMARK    GeneRIF: RHCE represents the ancestral RH position, while RHD is
            the duplicated gene
REFERENCE   6  (bases 1 to 2814)
  AUTHORS   Wagner,F.F. and Flegel,W.A.
  TITLE     RHD gene deletion occurred in the Rhesus box
  JOURNAL   Blood 95 (12), 3662-3668 (2000)
   PUBMED   10845894
REFERENCE   7  (bases 1 to 2814)
  AUTHORS   Singleton,B.K., Green,C.A., Avent,N.D., Martin,P.G., Smart,E.,
            Daka,A., Narter-Olaga,E.G., Hawthorne,L.M. and Daniels,G.
  TITLE     The presence of an RHD pseudogene containing a 37 base pair
            duplication and a nonsense mutation in africans with the Rh
            D-negative blood group phenotype
  JOURNAL   Blood 95 (1), 12-18 (2000)
   PUBMED   10607679
REFERENCE   8  (bases 1 to 2814)
  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   9  (bases 1 to 2814)
  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   10 (bases 1 to 2814)
  AUTHORS   Colin,Y., Cherif-Zahar,B., Le Van Kim,C., Raynal,V., Van Huffel,V.
            and Cartron,J.P.
  TITLE     Genetic basis of the RhD-positive and RhD-negative blood group
            polymorphism as determined by Southern analysis
  JOURNAL   Blood 78 (10), 2747-2752 (1991)
   PUBMED   1824267
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL928711.18.
            
            On Apr 19, 2021 this sequence version replaced NM_016124.5.
            
            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 the RhD protein, and a
            second gene that encodes both the RhC and RhE antigens on a single
            polypeptide. The two genes, and a third unrelated gene, are found
            in a cluster on chromosome 1. 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.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            
            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 :: MF737522.1, MF737523.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2153307
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328664.9/ ENSP00000331871.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               AL928711.18        6515-6701
            188-374             AL928711.18        18579-18765
            375-525             AL928711.18        24647-24797
            526-673             AL928711.18        34952-35099
            674-840             AL928711.18        35526-35692
            841-978             AL928711.18        37328-37465
            979-1112            AL928711.18        40602-40735
            1113-1192           AL928711.18        51006-51085
            1193-1266           AL928711.18        55895-55968
            1267-2814           AL928711.18        62904-64451
FEATURES             Location/Qualifiers
     source          1..2814
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2814
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="Rh blood group D antigen"
                     /db_xref="GeneID:6007"
                     /db_xref="HGNC:HGNC:10009"
                     /db_xref="MIM:111680"
     exon            1..187
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..1293
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Rhesus system D polypeptide; RH polypeptide 2; blood group
                     antigen D; blood group Rh(D) polypeptide; RhD antigen;
                     Rhesus blood group antigen D; weak RHD antigen; Rh blood
                     group D antigen weak D type 160; RhD glycoprotein; blood
                     group protein RHD; D antigen (DCS); Rh blood group antigen
                     Evans; rhesus D antigen; Rh blood group, D anitgen; RhD
                     polypeptide; RhD blood group antigen; Rh blood group CcEe
                     antigen; Rh blood group C antigen; Rhesus D blood group
                     protein"
                     /codon_start=1
                     /product="blood group Rh(D) polypeptide isoform 1"
                     /protein_id="NP_057208.3"
                     /db_xref="CCDS:CCDS262.1"
                     /db_xref="GeneID:6007"
                     /db_xref="HGNC:HGNC:10009"
                     /db_xref="MIM:111680"
                     /translation="MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGL
                     VASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFP
                     SGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
                     FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWM
                     FWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLA
                     GGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSL
                     LGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKI
                     WKAPHEAKYFDDQVFWKFPHLAVGF"
     exon            188..374
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            375..525
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            526..673
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            674..840
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            841..978
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1112
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1192
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1266
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..2814
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2788..2793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="hexamer: AATAAA"
     regulatory      2794..2799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="hexamer: AATGAA"
     polyA_site      2807
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="major polyA site"
     polyA_site      2814
                     /gene="RHD"
                     /gene_synonym="CD240D; DIIIc; HDFNRH; RH; RH30; Rh4;
                     RHCED; RhDCw; RHDel; RHDVA(TT); RhII; RhK562-II; RhPI;
                     RHPII; RHXIII; SLC42A5"
                     /note="major polyA site"
ORIGIN      
        1 ctggtgctgg tggaacccct gcacagagac ggacacagga tgagctctaa gtacccgcgg
       61 tctgtccggc gctgcctgcc cctctgggcc ctaacactgg aagcagctct cattctcctc
      121 ttctattttt ttacccacta tgacgcttcc ttagaggatc aaaaggggct cgtggcatcc
      181 tatcaagttg gccaagatct gaccgtgatg gcggccattg gcttgggctt cctcacctcg
      241 agtttccgga gacacagctg gagcagtgtg gccttcaacc tcttcatgct ggcgcttggt
      301 gtgcagtggg caatcctgct ggacggcttc ctgagccagt tcccttctgg gaaggtggtc
      361 atcacactgt tcagtattcg gctggccacc atgagtgctt tgtcggtgct gatctcagtg
      421 gatgctgtct tggggaaggt caacttggcg cagttggtgg tgatggtgct ggtggaggtg
      481 acagctttag gcaacctgag gatggtcatc agtaatatct tcaacacaga ctaccacatg
      541 aacatgatgc acatctacgt gttcgcagcc tattttgggc tgtctgtggc ctggtgcctg
      601 ccaaagcctc tacccgaggg aacggaggat aaagatcaga cagcaacgat acccagtttg
      661 tctgccatgc tgggcgccct cttcttgtgg atgttctggc caagtttcaa ctctgctctg
      721 ctgagaagtc caatcgaaag gaagaatgcc gtgttcaaca cctactatgc tgtagcagtc
      781 agcgtggtga cagccatctc agggtcatcc ttggctcacc cccaagggaa gatcagcaag
      841 acttatgtgc acagtgcggt gttggcagga ggcgtggctg tgggtacctc gtgtcacctg
      901 atcccttctc cgtggcttgc catggtgctg ggtcttgtgg ctgggctgat ctccgtcggg
      961 ggagccaagt acctgccggg gtgttgtaac cgagtgctgg ggattcccca cagctccatc
     1021 atgggctaca acttcagctt gctgggtctg cttggagaga tcatctacat tgtgctgctg
     1081 gtgcttgata ccgtcggagc cggcaatggc atgattggct tccaggtcct cctcagcatt
     1141 ggggaactca gcttggccat cgtgatagct ctcatgtctg gtctcctgac aggtttgctc
     1201 ctaaatctta aaatatggaa agcacctcat gaggctaaat attttgatga ccaagttttc
     1261 tggaagtttc ctcatttggc tgttggattt taagcaaaag catccaagaa aaacaaggcc
     1321 tgttcaaaaa caagacaact tcctctcact gttgcctgca tttgtacgtg agaaacgctc
     1381 atgacagcaa agtctccaat gttcgcgcag gcactggagt cagagaaaat ggagttgaat
     1441 cctttctctg ccactctttg aggagaatct caccatttat tatgcactgt agaatacaac
     1501 aataaaatac agccatgtac cacataacaa catcttggta aacaacagac tgcatatatg
     1561 atggtggtca tccagtaagc taaggttaat ttattattat tccttgtttt tttttttttt
     1621 tttttttttt tgagatgtag tcttactctg tcacccaggc tagagtgcaa tggcaccatc
     1681 ttggctcact gcaacctcta cctcctgggt tcaagcaaat ctcctgcctc agcctccaaa
     1741 gtagctggga ttacaggcac ccaccacatc tggctaattt tttgtatttt tagtaaagat
     1801 ggggtttcac catgttggcc aggctgatct caaactcctg acctcaagtg atctgcccgc
     1861 ctcggcctcc caaagtgctg gaaccacagg cctgagccac tgtgcccagc cttgtttgct
     1921 tttttaacag ataacagtgt gctcatagaa actgctttga catgactgca atcatgtgct
     1981 tcatagaaac ttaattagat tataccacta gagtcttcag atttttatac tttttttttt
     2041 tgaaacggag tctcactctg tcaccaggct ggagtgcagt gccgcaatct cggctcactg
     2101 caacctccgc ctcccaggtt caagcaattc tcctgcctca gcctcccgag tagctggaat
     2161 tacaagtgcg cactaccaca cccagctaat ttttgcattt ttacttgaca gggtttcacc
     2221 atgttggcta ggatagtttc accaggatct cttggcctca tgatcagcct gcctcggcct
     2281 cccaaagtgc tgggattaca ggtgtgagcc accgtgccca gcctatactt ccctttttga
     2341 ataccatttg gtgttttgaa gaattaacag ctttgtgaac gtggcagtgc ttgtgattca
     2401 ggcttccatt gagaccaagg ggagaacctg gttgcaggac aaacagacgg acagcgtgtg
     2461 gcagtgttta aatgctcttc tgaaggctga tacgacagct ctctgtgcac tgattgcata
     2521 tgcatcccaa gattatatta ttgttttcta ctgctatgtg tcacactttg ccaaacagga
     2581 tgtggaaaat gaataagcgg ttttcttagg cacttcttaa cagacaattg gtcaaaatga
     2641 actccattgc ttaagaaaca cataaacacc atttagtcac tgaacatagc tatatgtatg
     2701 gttgttacta tgggaaatct tgttttgcca attttctttg aaaattctgg cagaccaagg
     2761 ttctttttgt ttacataata cttgaaaaat aaaaatgaac aagctaacaa acta
//
