LOCUS       NM_001007544            1205 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens regulator of hemoglobinization and erythroid cell
            expansion (RHEX), transcript variant 1, mRNA.
ACCESSION   NM_001007544 XM_496432
VERSION     NM_001007544.4
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 1205)
  AUTHORS   Franke,K., Bal,G., Li,Z., Zuberbier,T. and Babina,M.
  TITLE     Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human
            Skin Mast Cells
  JOURNAL   Cells 12 (9), 1306 (2023)
   PUBMED   37174705
  REMARK    GeneRIF: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling
            in Human Skin Mast Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1205)
  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 1205)
  AUTHORS   Verma,R., Su,S., McCrann,D.J., Green,J.M., Leu,K., Young,P.R.,
            Schatz,P.J., Silva,J.C., Stokes,M.P. and Wojchowski,D.M.
  TITLE     RHEX, a novel regulator of human erythroid progenitor cell
            expansion and erythroblast development
  JOURNAL   J Exp Med 211 (9), 1715-1722 (2014)
   PUBMED   25092874
  REMARK    GeneRIF: RHEX(C1orf186) comprises a new EPO/EPOR target and
            regulator of erythroid cell expansion that additionally acts to
            support late-stage erythroblast development
            Erratum:[J Exp Med. 2015 Jun 1;212(6):971. doi:
            10.1084/jem.2013062404242015c.. PMID: 25941257]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC071785.1, AK122631.1 and AI683243.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001007544.3.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC071785.1, SRR5189667.201948.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331555.10/ ENSP00000356093.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1181              BC071785.1         40-1220
            1182-1204           AK122631.1         1632-1654
            1205-1205           AI683243.1         30-30               c
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1205
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="regulator of hemoglobinization and erythroid cell
                     expansion"
                     /db_xref="GeneID:440712"
                     /db_xref="HGNC:HGNC:25341"
                     /db_xref="MIM:616088"
     exon            1..93
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     exon            94..200
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..708
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="uncharacterized protein C1orf186; regulator of
                     human erythroid cell expansion protein"
                     /codon_start=1
                     /product="regulator of hemoglobinization and erythroid
                     cell expansion protein"
                     /protein_id="NP_001007545.1"
                     /db_xref="CCDS:CCDS73014.1"
                     /db_xref="GeneID:440712"
                     /db_xref="HGNC:HGNC:25341"
                     /db_xref="MIM:616088"
                     /translation="MLTEVMEVWHGLVIAVVSLFLQACFLTAINYLLSRHMAHKSEQI
                     LKAASLQVPRPSPGHHHPPAVKEMKETQTERDIPMSDSLYRHDSDTPSDSLDSSCSSP
                     PACQATEDVDYTQVVFSDPGELKNDSPLDYENIKEITDYVNVNPERHKPSFWYFVNPA
                     LSEPAEYDQVAM"
     exon            201..301
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     exon            302..445
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     exon            446..507
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     exon            508..1205
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1184..1189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="hexamer: AATAAA"
     polyA_site      1205
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="major polyA site"
ORIGIN      
        1 agagcagcgt gtagcagttc cctgtggagg attaacacag tggctgaaca ccgggaagga
       61 actggcactt ggagtccgga catctgaaac ttgatctcca gcaccctgcc ggtggcacta
      121 ctgagagacg aggtgccagg gtggttcctg aaagtgcctg agccccaact tatcagcaag
      181 gagctcatca tgctgacaga agtcatggag gtctggcatg gcttagtgat cgcggtggtg
      241 tccctcttcc tgcaggcctg cttcctcacc gccatcaact acctgctcag caggcacatg
      301 gcccacaaga gtgaacagat actgaaagcg gccagtctcc aggttcccag gcccagccct
      361 ggccaccatc atccacctgc tgtcaaagag atgaaggaga ctcagacaga gagagacatc
      421 ccaatgtctg attcccttta caggcatgac agcgacacac cctcagatag cttggatagc
      481 tcctgcagtt cgcctcctgc ctgccaggcc acagaggatg tggattacac acaagtcgtc
      541 ttttctgacc ctggagaact aaaaaatgac tccccgctgg actatgagaa cataaaggaa
      601 atcacagatt atgtcaatgt caatccagaa agacacaagc ccagtttctg gtattttgtc
      661 aaccctgctc tgtctgagcc agcggaatat gatcaagtgg ccatgtgaat tccaaatatt
      721 tttaatgggg tccagttctc tatggattct tacatttaat ttgtagggaa atgccatttt
      781 tcccccttaa acaaggcatg gggctcacaa gtctatggag acaggccaaa aagaatgtgg
      841 agaagaaaac tgataaatac acagaggtcc tcaagaccca tggactcctg gtctgtaccc
      901 aaaaaagctg ttcgttcctc aaaaacaaaa acaaggcttg gctgggaaaa caggccaatg
      961 ccccggcaag aaaggttgag atcagatgtt aggaagaact ttcaggtaaa gtatgagaac
     1021 tatggagtcc atcagcagag atagtagtga agtctctccc cagggaaaat tttaaaaagg
     1081 ttgaatcagc tgttgtagag ttctatttgg caatctcatg gttaaatgac ttccctttga
     1141 gctctttaat tattggcaat aaacaacttc tttaaaagtt ttaaataaaa tagcaaccac
     1201 cacca
//
