Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA

NCBI Reference Sequence: NM_000121.3

FASTA Graphics Go to: LOCUS 2012 DEFINITION ACCESSION VERSION KEYWORDS SOURCE ORGANISM Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. NM_000121 NM_000121.3 . Homo sapiens (human) Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE AUTHORS TITLE JOURNAL PUBMED REMARK 1 (bases 1 to 2459) Torrano,V., Procter,J., Cardus,P., Greaves,M. and Ford,A.M. ETV6-RUNX1 promotes survival of early B lineage progenitor cells via a dysregulated erythropoietin receptor Blood 118 (18), 4910-4918 (2011) 21900195 GeneRIF: ETV6-RUNX1 directly activates ectopic expression of a functional EPOR and provides cell survival signals that may contribute critically to persistence of covert premalignant clones in children. REFERENCE AUTHORS TITLE JOURNAL PUBMED REMARK control of glioma growth. REFERENCE AUTHORS 3 (bases 1 to 2459) Wang,L., Li,H.G., Xia,Z.S., Wen,J.M. and Lv,J. 2 (bases 1 to 2459) Peres,E.A., Valable,S., Guillamo,J.S., Marteau,L., Bernaudin,J.F., Roussel,S., Lechapt-Zalcman,E., Bernaudin,M. and Petit,E. Targeting the erythropoietin receptor on glioma cells reduces tumour growth Exp. Cell Res. 317 (16), 2321-2332 (2011) 21749867 GeneRIF: EPOR signalling in tumour cells is involved in the GI:296040523 NM_000121 2459 bp mRNA linear PRI 22-JAN-

TITLE JOURNAL PUBMED REMARK

Prognostic significance of erythropoietin and erythropoietin receptor in gastric adenocarcinoma World J. Gastroenterol. 17 (34), 3933-3940 (2011) 22025882 GeneRIF: Data suggest that increased expression of erythropoietin and erythropoietin receptor may play a significant role in the carcinogenesis, angiogenesis and progression of gastric adenocarcinoma.

REFERENCE AUTHORS TITLE JOURNAL PUBMED REMARK

(bases 1 to 2459)

Gombos,Z., Danihel,L., Repiska,V., Acs,G. and Furth,E. Expression of erythropoietin and its receptor increases in colonic neoplastic progression: the role of hypoxia in tumorigenesis Indian J Pathol Microbiol 54 (2), 273-278 (2011) 21623073 GeneRIF: The uniform increase in the expression of Epo and EpoR along the colonic neoplastic sequence and further increase in ischemic/necrotic areas indicates that the Epo signaling pathway

is an important component in colon carcinogenesis. REFERENCE AUTHORS TITLE JOURNAL PUBMED REFERENCE AUTHORS TITLE JOURNAL PUBMED REFERENCE AUTHORS TITLE JOURNAL PUBMED REFERENCE AUTHORS TITLE JOURNAL 5 (bases 1 to 2459) Nakamura,Y., Komatsu,N. and Nakauchi,H. A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells Science 257 (5073), 1138-1141 (1992) 1324524 6 (bases 1 to 2459) Yoshimura,A. and Lodish,H.F. In vitro phosphorylation of the erythropoietin receptor and an associated protein, pp130 Mol. Cell. Biol. 12 (2), 706-715 (1992) 1310150 7 (bases 1 to 2459) Penny,L.A. and Forget,B.G. Genomic organization of the human erythropoietin receptor gene Genomics 11 (4), 974-980 (1991) 1664413 8 (bases 1 to 2459) Maouche,L., Tournamille,C., Hattab,C., Boffa,G., Cartron,J.P. and Chretien,S. Cloning of the gene encoding the human erythropoietin receptor Blood 78 (10), 2557-2563 (1991)

PUBMED REFERENCE AUTHORS TITLE JOURNAL PUBMED REFERENCE AUTHORS TITLE JOURNAL PUBMED COMMENT

1668607 9 (bases 1 to 2459) Ehrenman,K. and St John,T. The erythropoietin receptor gene: cloning and identification of multiple transcripts in an erythroid cell line OCIM1 Exp. Hematol. 19 (9), 973-977 (1991) 1654273 10 (bases 1 to 2459) Jones,S.S., D'Andrea,A.D., Haines,L.L. and Wong,G.G. Human erythropoietin receptor: cloning, expression, and biologic characterization Blood 76 (1), 31-35 (1990) 2163696 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 May 14, 2010 this sequence version replaced gi:4557561. 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. 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. COMPLETENESS: complete on the 5' end. PRIMARY REFSEQ_SPAN 1-30 31-1847 1848-1928 1929-2459 FEATURES source 1..2459 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3-p13.2" gene 1..2459 /gene="EPOR" /gene_synonym="EPO-R" /note="erythropoietin receptor" /db_xref="GeneID:2057" /db_xref="HGNC:3416" /db_xref="HPRD:00587" /db_xref="MIM:133171" exon 1..250 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=1 misc_feature 58..60 /gene="EPOR" /gene_synonym="EPO-R" /note="upstream in-frame stop codon" CDS 136..1662 /gene="EPOR" /gene_synonym="EPO-R" /codon_start=1 /product="erythropoietin receptor precursor" /protein_id="NP_000112.1" /db_xref="GI:4503591" /db_xref="CCDS:CCDS12260.1" /db_xref="GeneID:2057" PRIMARY_IDENTIFIER PRIMARY_SPAN BC019092.2 M60459.1 AC024575.6 BU619338.1 Location/Qualifiers 1-30 1-1817 52999-53079 1-531 c c COMP

/db_xref="HGNC:3416" /db_xref="HPRD:00587" /db_xref="MIM:133171" /translation="MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALL AA RGPEELLCFTERLEDLVCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTAR GA VRFWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADE SG HVVLRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRY TF AVRARMAEPSFGGFWSAWSEPVSLLTPSDLDPLILTLSLILVVILVLLTVLALLSH RR ALKQKIWPGIPSPESEFEGLFTTHKGNFQLWLYQNDGCLWWSPCTPFTEDPPASLE VL SERCWGTMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWLLPRNPPSEDLPGPGG SV DIVAMDEGSEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPT PP HLKYLYLVVSDSGISTDYSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVA CS " sig_peptide 136..207 /gene="EPOR" /gene_synonym="EPO-R" mat_peptide 208..1659 /gene="EPOR" /gene_synonym="EPO-R" /product="erythropoietin receptor" misc_feature 484..486 /gene="EPOR" /gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded" /note="Required for ligand binding; propagated from UniProtKB/Swiss-Prot (P19235.1); other site" misc_feature 832..846 /gene="EPOR" /gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded"

/note="propagated from UniProtKB/Swiss-Prot (P19235.1); Region: WSXWS motif" misc_feature 886..954 /gene="EPOR" /gene_synonym="EPO-R" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P19235.1); transmembrane region" misc_feature 979..1005 /gene="EPOR" /gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P19235.1); Region: Box 1 motif" misc_feature 1237..1239 /gene="EPOR" /gene_synonym="EPO-R" /inference="non-experimental evidence, no additional details recorded" /note="Interaction with APS and STAT5, and activation (By similarity); propagated from UniProtKB/Swiss-Prot (P19235.1); other site" misc_feature 1411..1413 /gene="EPOR" /gene_synonym="EPO-R" /inference="non-experimental evidence, no additional details recorded" /note="Required for STAT5/PTPN11/SOCS3 binding (By similarity); propagated from UniProtKB/Swiss-Prot (P19235.1); other site" misc_feature 1489..1506 /gene="EPOR" /gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P19235.1); Region: ITIM motif" misc_feature 1495..1503 /gene="EPOR"

/gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P19235.1); Region: Required for high-affinity SOCS3 binding" misc_feature 1495..1497 /gene="EPOR" /gene_synonym="EPO-R" /inference="non-experimental evidence, no additional details recorded" /note="Interaction with PTPN6 (By similarity); propagated from UniProtKB/Swiss-Prot (P19235.1); other site" misc_feature 1501..1503 /gene="EPOR" /gene_synonym="EPO-R" /experiment="experimental evidence, no additional details recorded" /note="Required for STAT1/STAT3 activation; propagated from UniProtKB/Swiss-Prot (P19235.1); other site" misc_feature 1588..1590 /gene="EPOR" /gene_synonym="EPO-R" /inference="non-experimental evidence, no additional details recorded" /note="Required for CrkL binding (By similarity); propagated from UniProtKB/Swiss-Prot (P19235.1); other site" exon 251..386 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=2a exon 387..562 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=3 exon 563..720 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8"

/number=4 exon 721..874 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=5 exon 875..962 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=6 exon 963..1050 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=7 exon 1051..2441 /gene="EPOR" /gene_synonym="EPO-R" /inference="alignment:Splign:1.39.8" /number=8 STS 1516..1675 /gene="EPOR" /gene_synonym="EPO-R" /standard_name="RH17696" /db_xref="UniSTS:43619" STS 1715..1822 /gene="EPOR" /gene_synonym="EPO-R" /standard_name="D19S1015" /db_xref="UniSTS:11830" polyA_signal 2064..2069 /gene="EPOR" /gene_synonym="EPO-R" polyA_site 2086 /gene="EPOR" /gene_synonym="EPO-R" polyA_signal 2418..2423 /gene="EPOR" /gene_synonym="EPO-R" polyA_site 2441

/gene="EPOR" /gene_synonym="EPO-R" ORIGIN 1 cttagaggcg cctggtcggg aagggcctgg tcagctgcgt ccggcggagg cagctgctga 61 cccagctgtg gactgtgccg ggggcggggg acggaggggc aggagccctg ggctccccgt 121 ggcgggggct gtatcatgga ccacctcggg gcgtccctct ggccccaggt cggctccctt 181 tgtctcctgc tcgctggggc cgcctgggcg cccccgccta acctcccgga ccccaagttc 241 gagagcaaag cggccttgct ggcggcccgg gggcccgaag agcttctgtg cttcaccgag 301 cggttggagg acttggtgtg tttctgggag gaagcggcga gcgctggggt gggcccgggc 361 aactacagct tctcctacca gctcgaggat gagccatgga agctgtgtcg cctgcaccag 421 gctcccacgg ctcgtggtgc ggtgcgcttc tggtgttcgc tgcctacagc cgacacgtcg 481 agcttcgtgc ccctagagtt gcgcgtcaca gcagcctccg gcgctccgcg atatcaccgt 541 gtcatccaca tcaatgaagt agtgctccta gacgcccccg tggggctggt ggcgcggttg 601 gctgacgaga gcggccacgt agtgttgcgc tggctcccgc cgcctgagac acccatgacg 661 tctcacatcc gctacgaggt ggacgtctcg gccggcaacg gcgcagggag cgtacagagg 721 gtggagatcc tggagggccg caccgagtgt gtgctgagca acctgcgggg ccggacgcgc 781 tacaccttcg ccgtccgcgc gcgtatggct gagccgagct tcggcggctt ctggagcgcc 841 tggtcggagc ctgtgtcgct gctgacgcct agcgacctgg accccctcat cctgacgctc 901 tccctcatcc tcgtggtcat cctggtgctg ctgaccgtgc tcgcgctgct ctcccaccgc 961 cgggctctga agcagaagat ctggcctggc atcccgagcc cagagagcga gtttgaaggc 1021 ctcttcacca cccacaaggg taacttccag ctgtggctgt accagaatga tggctgcctg 1081 tggtggagcc cctgcacccc cttcacggag gacccacctg cttccctgga agtcctctca 1141 gagcgctgct gggggacgat gcaggcagtg gagccgggga cagatgatga gggccccctg 1201 ctggagccag tgggcagtga gcatgcccag gatacctatc tggtgctgga caaatggttg 1261 ctgccccgga acccgcccag tgaggacctc ccagggcctg gtggcagtgt ggacatagtg 1321 gccatggatg aaggctcaga agcatcctcc tgctcatctg ctttggcctc gaagcccagc 1381 ccagagggag cctctgctgc cagctttgag tacactatcc tggaccccag ctcccagctc 1441 ttgcgtccat ggacactgtg ccctgagctg ccccctaccc caccccacct aaagtacctg 1501 taccttgtgg tatctgactc tggcatctca actgactaca gctcagggga ctcccaggga 1561 gcccaagggg gcttatccga tggcccctac tccaaccctt atgagaacag ccttatccca 1621 gccgctgagc ctctgccccc cagctatgtg gcttgctctt aggacaccag gctgcagatg 1681 atcagggatc caatatgact cagagaacca gtgcagactc aagacttatg gaacagggat 1741 ggcgaggcct ctctcaggag caggggcatt gctgattttg tctgcccaat ccatcctgct 1801 caggaaacca caaccttgca gtatttttaa atatgtatag tttttttttg tatctatata 1861 tatatataca catatgtatg taagtttttc taccatgatt tctacaaaca ccctttaagt 1921 cccatcttcc cctgggcata ggccataggg atagaagtta aagttcttga gcttattcag 1981 aagctggatc tgcaatctga atgctactca taacataaca aaatagtatg ttaaacagct 2041 cttaaatctt actggcttac cacattaaat gatttctctc tcctaactca gctcaaatgg 2101 gcagccatcc atgggatgag tcagaggttc agactcttcc agtctgtagc tctaccttct 2161 cttagggtac ttagatggat cccctgttct acaaactgcc agtcagcaag ggaagaaaaa 2221 gggcagcaat gaccctcaat gggccatttg agggatctgg cctggaaatg ggcttcctct

2281 cttcttctca cacctcactg gctggaaaca gtcacatgac cccagtcaca tgaaaggcca 2341 ggaaacttag tttagctgta cacccaggaa gggcaaagct gtttaagggc cactagctag 2401 tctctgccac taataataat aaaagtaatt ctgaatcagg caaaaaaaaa aaaaaaaaa //