LOCUS       NM_000324               1895 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens Rh associated glycoprotein (RHAG), mRNA.
ACCESSION   NM_000324
VERSION     NM_000324.3
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 1895)
  AUTHORS   Banerjee,S., Mathur,A., Hurkat,N., Chakraborty,S. and Reddy,T.V.
  TITLE     Rhnull phenotype in an Indian patient due to a novel c.1138 + 2 t >
            a mutation in the RHAG gene
  JOURNAL   Transfus Med 34 (3), 223-226 (2024)
   PUBMED   38711255
  REMARK    GeneRIF: Rhnull phenotype in an Indian patient due to a novel
            c.1138 + 2 t > a mutation in the RHAG gene.
REFERENCE   2  (bases 1 to 1895)
  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   3  (bases 1 to 1895)
  AUTHORS   Tanaka,M., Abe,T., Minamitani,T., Akiba,H., Horikawa,T., Tobita,R.,
            Isa,K., Ogasawara,K., Takahashi,H., Tateyama,H., Tone,S.,
            Tsumoto,K., Yasui,T., Kimura,T., Fujimura,Y., Hirayama,F., Tani,Y.
            and Takihara,Y.
  TITLE     The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to
            haemolytic disease of the newborn
  JOURNAL   Br J Haematol 191 (5), 920-926 (2020)
   PUBMED   32705675
  REMARK    GeneRIF: The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise
            to haemolytic disease of the newborn.
REFERENCE   4  (bases 1 to 1895)
  AUTHORS   Mufarrege,N., Franco,N., Trucco Boggione,C., Arnoni,C., de Paula
            Vendrame,T., Bartoli,S., Ensinck,A., Principi,C., Lujan
            Brajovich,M., Mattaloni,S., Riquelme,B., Biondi,C., Castilho,L. and
            Cotorruelo,C.
  TITLE     Extensive clinical, serologic and molecular studies lead to the
            first reported Rhmod phenotype in Argentina
  JOURNAL   Transfusion 60 (7), 1373-1377 (2020)
   PUBMED   32378229
  REMARK    GeneRIF: Extensive clinical, serologic and molecular studies lead
            to the first reported Rhmod phenotype in Argentina.
REFERENCE   5  (bases 1 to 1895)
  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   6  (bases 1 to 1895)
  AUTHORS   Hyland,C.A., Cherif-Zahar,B., Cowley,N., Raynal,V., Parkes,J.,
            Saul,A. and Cartron,J.P.
  TITLE     A novel single missense mutation identified along the RH50 gene in
            a composite heterozygous Rhnull blood donor of the regulator type
  JOURNAL   Blood 91 (4), 1458-1463 (1998)
   PUBMED   9454778
REFERENCE   7  (bases 1 to 1895)
  AUTHORS   Huang,C.H.
  TITLE     The human Rh50 glycoprotein gene. Structural organization and
            associated splicing defect resulting in Rh(null) disease
  JOURNAL   J Biol Chem 273 (4), 2207-2213 (1998)
   PUBMED   9442063
REFERENCE   8  (bases 1 to 1895)
  AUTHORS   Cherif-Zahar,B., Raynal,V., Gane,P., Mattei,M.G., Bailly,P.,
            Gibbs,B., Colin,Y. and Cartron,J.P.
  TITLE     Candidate gene acting as a suppressor of the RH locus in most cases
            of Rh-deficiency
  JOURNAL   Nat Genet 12 (2), 168-173 (1996)
   PUBMED   8563755
REFERENCE   9  (bases 1 to 1895)
  AUTHORS   Ridgwell,K., Spurr,N.K., Laguda,B., MacGeoch,C., Avent,N.D. and
            Tanner,M.J.
  TITLE     Isolation of cDNA clones for a 50 kDa glycoprotein of the human
            erythrocyte membrane associated with Rh (rhesus) blood-group
            antigen expression
  JOURNAL   Biochem J 287 (Pt 1) (Pt 1), 223-228 (1992)
   PUBMED   1417776
REFERENCE   10 (bases 1 to 1895)
  AUTHORS   Avent,N.D., Ridgwell,K., Mawby,W.J., Tanner,M.J., Anstee,D.J. and
            Kumpel,B.
  TITLE     Protein-sequence studies on Rh-related polypeptides suggest the
            presence of at least two groups of proteins which associate in the
            human red-cell membrane
  JOURNAL   Biochem J 256 (3), 1043-1046 (1988)
   PUBMED   3146980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X64594.1 and BC012605.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000324.2.
            
            Summary: The protein encoded by this gene is erythrocyte-specific
            and is thought to be part of a membrane channel that transports
            ammonium and carbon dioxide across the blood cell membrane. The
            encoded protein appears to interact with Rh blood group antigens
            and Rh30 polypeptides. Defects in this gene are a cause of
            regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency
            syndrome.[provided by RefSeq, Mar 2009].
            
            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 :: X64594.1, BC012605.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371175.10/ ENSP00000360217.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-750               X64594.1           1-750
            751-1407            BC012605.1         755-1411
            1408-1895           X64594.1           1408-1895
FEATURES             Location/Qualifiers
     source          1..1895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..1895
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="Rh associated glycoprotein"
                     /db_xref="GeneID:6005"
                     /db_xref="HGNC:HGNC:10006"
                     /db_xref="MIM:180297"
     exon            1..184
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1257
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="Rhesus blood group-associated glycoprotein; Rhesus
                     associated polypeptide, 50-KD; Rh 50 glycoprotein;
                     erythrocyte membrane glycoprotein Rh50; rh type A
                     glycoprotein; rh family type A glycoprotein; rhesus blood
                     group family type A glycoprotein; rhesus blood
                     group-associated ammonia channel; erythrocyte plasma
                     membrane 50 kDa glycoprotein; mutant Rh associated
                     glycoprotein"
                     /codon_start=1
                     /product="ammonium transporter Rh type A"
                     /protein_id="NP_000315.2"
                     /db_xref="CCDS:CCDS4927.1"
                     /db_xref="GeneID:6005"
                     /db_xref="HGNC:HGNC:10006"
                     /db_xref="MIM:180297"
                     /translation="MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDM
                     GIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQ
                     SQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVS
                     EIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFL
                     WMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNAT
                     LAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLH
                     GLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPS
                     DQNCYDDSVYWKVPKTR"
     exon            185..368
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            369..519
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            520..667
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            668..834
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            835..972
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1094
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1165
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1239
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1895
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1889..1894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="hexamer: AATAAA"
     polyA_site      1895
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="major polyA site"
ORIGIN      
        1 agtgtgcctc tgtcctttgc cacaaacatg aggttcacat tccctctcat ggctatagtc
       61 ctggaaattg ccatgattgt tttatttgga ttatttgttg agtatgaaac ggaccagact
      121 gttctcgagc agctcaacat caccaagcca acagacatgg gcatattctt tgagttatat
      181 cctctgttcc aagatgtaca tgttatgata tttgttgggt ttggcttcct catgaccttc
      241 ctgaagaaat atggcttcag cagtgtgggt atcaacctac tcgttgctgc tttgggcctc
      301 cagtggggca ctattgtaca gggaatcctg caaagccagg gacagaaatt taacattgga
      361 atcaaaaaca tgataaatgc agacttcagt gcagccacag ttctgatatc ttttggagct
      421 gtcctgggaa aaacgagccc cacccaaatg ctgatcatga caattttaga aattgttttc
      481 tttgcccaca atgaatacct ggttagtgaa atatttaagg cctctgacat tggagcatca
      541 atgacgatcc atgcctttgg ggcctacttt ggcttggctg tagcaggcat cttgtatcga
      601 tctggactga gaaaggggca tgaaaatgaa gagtccgcat actactcaga cttgtttgca
      661 atgattggga ctctctttct gtggatgttt tggcccagct ttaactcggc cattgctgaa
      721 cctggagaca aacagtgcag ggccattgta aacacgtact tctctctcgc tgcctgtgtg
      781 ctcacagcct ttgccttctc cagcctagtg gagcaccgag gcaagctcaa catggttcac
      841 attcagaatg ccacccttgc tggaggagtt gctgtgggca cttgtgcgga tatggcaatt
      901 cacccatttg gttctatgat tattgggagc attgcaggaa tggtctctgt gcttggatac
      961 aagttcctga ctccactttt tactactaaa ctgaggatcc atgatacatg tggggtccat
     1021 aacctccacg gcttacctgg tgtagtggga ggccttgcag gcattgtggc agtagcaatg
     1081 ggcgcctcca acacgtctat ggccatgcag gcagctgcac tgggttcctc tatcggaaca
     1141 gcagttgttg gaggtctgat gacaggttta attctaaagt tgcctctctg gggacagcca
     1201 tctgaccaga actgctatga tgattctgtt tattggaagg tccctaagac gagataactt
     1261 gacaatcagt tccatggaca tggtgaccac agccagctgg aacctgaagt ctaaacacca
     1321 ttcctgctct ccagcttcct ttcccattat ccagaatcaa gtccaaataa acaaaaaggg
     1381 agtaaccaaa gagagtatgg accagagtga atagatccta agtcccaaat ggccagtgta
     1441 aaaatgtcct tatgtctgat gctgtctctt gctcttcaat gattaattga ggggatgtta
     1501 ctcataaaac agataatcaa atagatcttc tccaggattc ccaaaaagct tttggcagtg
     1561 agtaaataca gagtaaacat gtcagtttct taatgtagac actatgtctt caatcccaaa
     1621 aattataaaa ctgaaaccca tgaagcaaga atagatgtga gaaatctatg taaaaaaata
     1681 attaaagaaa tgcatgtgtg taaagtagta atatgatgat tttaggtagt gctttttatt
     1741 ttaaaaatag tctagttagt aatgttgtat ccttgcatga atattattct taattccttt
     1801 tgcatgttga ctatttgcaa cgagctcaaa tgctatctga tcaaagtcta ttttgcataa
     1861 aatgtccaat aattaaatat tgttataaaa taaaa
//
