LOCUS       NM_000121               2411 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens erythropoietin receptor (EPOR), transcript variant 1,
            mRNA.
ACCESSION   NM_000121
VERSION     NM_000121.4
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 2411)
  AUTHORS   Zakaria,M.F., Sonoda,S., Kato,H., Ma,L., Uehara,N.,
            Kyumoto-Nakamura,Y., Sharifa,M.M., Yu,L., Dai,L.,
            Yamauchi-Tomoda,E., Aijima,R., Yamaza,H., Nishimura,F. and
            Yamaza,T.
  TITLE     Erythropoietin receptor signal is crucial for periodontal ligament
            stem cell-based tissue reconstruction in periodontal disease
  JOURNAL   Sci Rep 14 (1), 6719 (2024)
   PUBMED   38509204
  REMARK    GeneRIF: Erythropoietin receptor signal is crucial for periodontal
            ligament stem cell-based tissue reconstruction in periodontal
            disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2411)
  AUTHORS   Han,Y., Gao,C., Liu,Y., Zhang,H., Wang,S., Zhao,H., Bao,W., Guo,X.,
            Vinchi,F., Lobo,C., Shi,P., Mendelson,A., Luchsinger,L., Zhong,H.,
            Yazdanbakhsh,K. and An,X.
  TITLE     Hemolysis-driven IFNalpha production impairs erythropoiesis by
            negatively regulating EPO signaling in sickle cell disease
  JOURNAL   Blood 143 (11), 1018-1031 (2024)
   PUBMED   38127913
  REMARK    GeneRIF: Hemolysis-driven IFNalpha production impairs
            erythropoiesis by negatively regulating EPO signaling in sickle
            cell disease.
REFERENCE   3  (bases 1 to 2411)
  AUTHORS   Zhang,Y., Zhu,Y., Wang,S., Feng,Y.C. and Li,H.
  TITLE     Erythropoietin receptor is a risk factor for prognosis: A potential
            biomarker in lung adenocarcinoma
  JOURNAL   Pathol Res Pract 251, 154891 (2023)
   PUBMED   37844485
  REMARK    GeneRIF: Erythropoietin receptor is a risk factor for prognosis: A
            potential biomarker in lung adenocarcinoma.
REFERENCE   4  (bases 1 to 2411)
  AUTHORS   Prchal,J.
  TITLE     Primary Familial and Congenital Erythrocytosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27831681
REFERENCE   5  (bases 1 to 2411)
  AUTHORS   Nakamura,Y., Komatsu,N. and Nakauchi,H.
  TITLE     A truncated erythropoietin receptor that fails to prevent
            programmed cell death of erythroid cells
  JOURNAL   Science 257 (5073), 1138-1141 (1992)
   PUBMED   1324524
REFERENCE   6  (bases 1 to 2411)
  AUTHORS   Yoshimura,A. and Lodish,H.F.
  TITLE     In vitro phosphorylation of the erythropoietin receptor and an
            associated protein, pp130
  JOURNAL   Mol Cell Biol 12 (2), 706-715 (1992)
   PUBMED   1310150
REFERENCE   7  (bases 1 to 2411)
  AUTHORS   Penny,L.A. and Forget,B.G.
  TITLE     Genomic organization of the human erythropoietin receptor gene
  JOURNAL   Genomics 11 (4), 974-980 (1991)
   PUBMED   1664413
REFERENCE   8  (bases 1 to 2411)
  AUTHORS   Maouche,L., Tournamille,C., Hattab,C., Boffa,G., Cartron,J.P. and
            Chretien,S.
  TITLE     Cloning of the gene encoding the human erythropoietin receptor
  JOURNAL   Blood 78 (10), 2557-2563 (1991)
   PUBMED   1668607
REFERENCE   9  (bases 1 to 2411)
  AUTHORS   Ehrenman,K. and St John,T.
  TITLE     The erythropoietin receptor gene: cloning and identification of
            multiple transcripts in an erythroid cell line OCIM1
  JOURNAL   Exp Hematol 19 (9), 973-977 (1991)
   PUBMED   1654273
REFERENCE   10 (bases 1 to 2411)
  AUTHORS   Jones,S.S., D'Andrea,A.D., Haines,L.L. and Wong,G.G.
  TITLE     Human erythropoietin receptor: cloning, expression, and biologic
            characterization
  JOURNAL   Blood 76 (1), 31-35 (1990)
   PUBMED   2163696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019092.2, M60459.1,
            AC024575.6 and BU619338.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000121.3.
            
            Summary: This gene encodes the erythropoietin receptor which is a
            member of the cytokine receptor family. Upon erythropoietin
            binding, this receptor activates Jak2 tyrosine kinase which
            activates different intracellular pathways including: Ras/MAP
            kinase, phosphatidylinositol 3-kinase and STAT transcription
            factors. The stimulated erythropoietin receptor appears to have a
            role in erythroid cell survival. Defects in the erythropoietin
            receptor may produce erythroleukemia and familial erythrocytosis.
            Dysregulation of this gene may affect the growth of certain tumors.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: M60459.1, BC112153.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222139.11/ ENSP00000222139.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BC019092.2         29-30
            3-1819              M60459.1           1-1817
            1820-1900           AC024575.6         52999-53079         c
            1901-2411           BU619338.1         21-531              c
FEATURES             Location/Qualifiers
     source          1..2411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2411
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="erythropoietin receptor"
                     /db_xref="GeneID:2057"
                     /db_xref="HGNC:HGNC:3416"
                     /db_xref="MIM:133171"
     exon            1..222
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1634
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /codon_start=1
                     /product="erythropoietin receptor precursor"
                     /protein_id="NP_000112.1"
                     /db_xref="CCDS:CCDS12260.1"
                     /db_xref="GeneID:2057"
                     /db_xref="HGNC:HGNC:3416"
                     /db_xref="MIM:133171"
                     /translation="MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAA
                     RGPEELLCFTERLEDLVCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGA
                     VRFWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESG
                     HVVLRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTF
                     AVRARMAEPSFGGFWSAWSEPVSLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRR
                     ALKQKIWPGIPSPESEFEGLFTTHKGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVL
                     SERCWGTMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSV
                     DIVAMDEGSEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPTPP
                     HLKYLYLVVSDSGISTDYSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVACS
                     "
     exon            223..358
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            359..534
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            535..692
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            693..846
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            847..934
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1022
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..2411
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2036..2041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="hexamer: ATTAAA"
     polyA_site      2058
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="major polyA site"
     regulatory      2390..2395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="hexamer: AATAAA"
     polyA_site      2411
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
ORIGIN      
        1 ggtcagctgc gtccggcgga ggcagctgct gacccagctg tggactgtgc cgggggcggg
       61 ggacggaggg gcaggagccc tgggctcccc gtggcggggg ctgtatcatg gaccacctcg
      121 gggcgtccct ctggccccag gtcggctccc tttgtctcct gctcgctggg gccgcctggg
      181 cgcccccgcc taacctcccg gaccccaagt tcgagagcaa agcggccttg ctggcggccc
      241 gggggcccga agagcttctg tgcttcaccg agcggttgga ggacttggtg tgtttctggg
      301 aggaagcggc gagcgctggg gtgggcccgg gcaactacag cttctcctac cagctcgagg
      361 atgagccatg gaagctgtgt cgcctgcacc aggctcccac ggctcgtggt gcggtgcgct
      421 tctggtgttc gctgcctaca gccgacacgt cgagcttcgt gcccctagag ttgcgcgtca
      481 cagcagcctc cggcgctccg cgatatcacc gtgtcatcca catcaatgaa gtagtgctcc
      541 tagacgcccc cgtggggctg gtggcgcggt tggctgacga gagcggccac gtagtgttgc
      601 gctggctccc gccgcctgag acacccatga cgtctcacat ccgctacgag gtggacgtct
      661 cggccggcaa cggcgcaggg agcgtacaga gggtggagat cctggagggc cgcaccgagt
      721 gtgtgctgag caacctgcgg ggccggacgc gctacacctt cgccgtccgc gcgcgtatgg
      781 ctgagccgag cttcggcggc ttctggagcg cctggtcgga gcctgtgtcg ctgctgacgc
      841 ctagcgacct ggaccccctc atcctgacgc tctccctcat cctcgtggtc atcctggtgc
      901 tgctgaccgt gctcgcgctg ctctcccacc gccgggctct gaagcagaag atctggcctg
      961 gcatcccgag cccagagagc gagtttgaag gcctcttcac cacccacaag ggtaacttcc
     1021 agctgtggct gtaccagaat gatggctgcc tgtggtggag cccctgcacc cccttcacgg
     1081 aggacccacc tgcttccctg gaagtcctct cagagcgctg ctgggggacg atgcaggcag
     1141 tggagccggg gacagatgat gagggccccc tgctggagcc agtgggcagt gagcatgccc
     1201 aggataccta tctggtgctg gacaaatggt tgctgccccg gaacccgccc agtgaggacc
     1261 tcccagggcc tggtggcagt gtggacatag tggccatgga tgaaggctca gaagcatcct
     1321 cctgctcatc tgctttggcc tcgaagccca gcccagaggg agcctctgct gccagctttg
     1381 agtacactat cctggacccc agctcccagc tcttgcgtcc atggacactg tgccctgagc
     1441 tgccccctac cccaccccac ctaaagtacc tgtaccttgt ggtatctgac tctggcatct
     1501 caactgacta cagctcaggg gactcccagg gagcccaagg gggcttatcc gatggcccct
     1561 actccaaccc ttatgagaac agccttatcc cagccgctga gcctctgccc cccagctatg
     1621 tggcttgctc ttaggacacc aggctgcaga tgatcaggga tccaatatga ctcagagaac
     1681 cagtgcagac tcaagactta tggaacaggg atggcgaggc ctctctcagg agcaggggca
     1741 ttgctgattt tgtctgccca atccatcctg ctcaggaaac cacaaccttg cagtattttt
     1801 aaatatgtat agtttttttt tgtatctata tatatatata cacatatgta tgtaagtttt
     1861 tctaccatga tttctacaaa caccctttaa gtcccatctt cccctgggca taggccatag
     1921 ggatagaagt taaagttctt gagcttattc agaagctgga tctgcaatct gaatgctact
     1981 cataacataa caaaatagta tgttaaacag ctcttaaatc ttactggctt accacattaa
     2041 atgatttctc tctcctaact cagctcaaat gggcagccat ccatgggatg agtcagaggt
     2101 tcagactctt ccagtctgta gctctacctt ctcttagggt acttagatgg atcccctgtt
     2161 ctacaaactg ccagtcagca agggaagaaa aagggcagca atgaccctca atgggccatt
     2221 tgagggatct ggcctggaaa tgggcttcct ctcttcttct cacacctcac tggctggaaa
     2281 cagtcacatg accccagtca catgaaaggc caggaaactt agtttagctg tacacccagg
     2341 aagggcaaag ctgtttaagg gccactagct agtctctgcc actaataata ataaaagtaa
     2401 ttctgaatca g
//
