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


RefSeq Accession Definition Services Price Order
NM_000121 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. ORF Sequence $442.83
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RefSeq Version NM_000121.3, 296040523
Length 2459 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.
Product erythropoietin receptor precursor
Comment

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.

RefSeq NP_000112.1
CDS 136..1662
Misc Feature(1)58..60
Misc Feature(2)244..555
Misc Feature(3)484..486
Misc Feature(4)571..849
Misc Feature(5)order(769..771,829..831)
Misc Feature(6)832..846
Misc Feature(7)order(832..837,841..846)
Misc Feature(8)886..954
Misc Feature(9)979..1005
Misc Feature(10)1237..1239
Misc Feature(11)1237..1239
Misc Feature(12)1411..1413
Misc Feature(13)1411..1413
Misc Feature(14)1489..1506
Misc Feature(15)1495..1503
Misc Feature(16)1495..1497
Misc Feature(17)1495..1497
Misc Feature(18)1501..1503
Misc Feature(19)1501..1503
Misc Feature(20)1537..1539
Misc Feature(21)1588..1590
Misc Feature(22)1588..1590
Misc Feature(23)1600..1602
Misc Feature(24)1645..1647
Exon (1)1..250
Gene:EPOR
Gene Synonym:EPO-R
Exon (2)251..386
Gene:EPOR
Gene Synonym:EPO-R
Exon (3)387..562
Gene:EPOR
Gene Synonym:EPO-R
Exon (4)563..720
Gene:EPOR
Gene Synonym:EPO-R
Exon (5)721..874
Gene:EPOR
Gene Synonym:EPO-R
Exon (6)875..962
Gene:EPOR
Gene Synonym:EPO-R
Exon (7)963..1050
Gene:EPOR
Gene Synonym:EPO-R
Exon (8)1051..2441
Gene:EPOR
Gene Synonym:EPO-R
Translation MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDL VCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPL ELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVVLRWLPPPETPMTSHIRY EVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPV SLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTH KGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVG SEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGAS AASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGL SDGPYSNPYENSLIPAAEPLPPSYVACS
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Position Chain Variation Link
complement(3)-dbSNP:
complement(3)-c, adbSNP:147119630
complement(13)-t, cdbSNP:316500
complement(81)-t, cdbSNP:140630699
complement(272)-dbSNP:
complement(272)-t, cdbSNP:45516306
complement(303)-c, adbSNP:35977803
complement(368)-g, cdbSNP:140267472
complement(384)-t, gdbSNP:151226066
complement(413)-dbSNP:
complement(413)-g, adbSNP:143163223
complement(431)-g, adbSNP:146235694
complement(510)-t, cdbSNP:147573962
complement(540)-c, adbSNP:201253733
complement(573)-dbSNP:
complement(573)-g, adbSNP:114645751
complement(588)-c, adbSNP:141262829
complement(598)-g, adbSNP:147792632
complement(638)-g, adbSNP:149831382
complement(703)-c, adbSNP:139849355
complement(769)-dbSNP:
complement(769)-c, adbSNP:185740642
complement(774)-g, cdbSNP:61729445
complement(792)-t, gdbSNP:61729384
complement(873)-g, cdbSNP:200636512
complement(925)-dbSNP:
complement(925)-g, cdbSNP:150695961
complement(926)-c, adbSNP:200458897
complement(936)-g, cdbSNP:142951311
complement(987)-dbSNP:
complement(987)-g, adbSNP:201953069
complement(995)-g, adbSNP:139756642
complement(1009)-t, cdbSNP:200057444
complement(1048)-g, c, adbSNP:60825798
complement(1051)-dbSNP:
complement(1051)-g, cdbSNP:192923196
complement(1120)-g, cdbSNP:201571204
complement(1140)-t, cdbSNP:146315075
complement(1175)-g, adbSNP:141940285
complement(1176)-t, cdbSNP:138884102
complement(1179)-t, cdbSNP:60476134
complement(1207)-g, adbSNP:183679845
complement(1246)-g, adbSNP:35586415
complement(1262)-t, adbSNP:192441411
complement(1273)-g, cdbSNP:35423344
complement(1274)-g, adbSNP:199645071
complement(1277..1278)-, ccdbSNP:281860299
complement(1292..1293)-, gdbSNP:34486271
complement(1368)-t, gdbSNP:149300172
complement(1370)-c, adbSNP:281860298
complement(1413)-g, cdbSNP:121917831
complement(1438)-g, cdbSNP:138559043
complement(1445)-t, cdbSNP:62638744
complement(1446..1447)-, tcdbSNP:281860297
complement(1449)-t, cdbSNP:200974642
complement(1451)-g, adbSNP:121917830
complement(1452)-g, adbSNP:121918116
complement(1472)-g, adbSNP:202047325
complement(1476)-g, adbSNP:140903357
complement(1500)-t, cdbSNP:202041743
complement(1509)-c, adbSNP:187931104
complement(1533)-g, adbSNP:138190746
complement(1542)-g, adbSNP:199637505
complement(1562)-g, adbSNP:146937816
complement(1563)-g, adbSNP:141096553
complement(1574)-g, adbSNP:199509853
complement(1595)-g, adbSNP:62638745
complement(1597)-g, adbSNP:142094773
complement(1623)-g, adbSNP:149193129
complement(1640)-g, cdbSNP:200372382
complement(1667)-g, adbSNP:112348054
complement(1690)-t, gdbSNP:182850257
complement(1694)-g, adbSNP:199784763
complement(1697)-t, cdbSNP:200997864
complement(1768)-t, cdbSNP:147359717
complement(1850)-t, gdbSNP:200554588
complement(1856)-t, gdbSNP:142688979
complement(1939)-t, adbSNP:191481987
complement(2059)-t, cdbSNP:185249501
complement(2087)-g, adbSNP:140441486
complement(2166)-t, cdbSNP:150535617
complement(2239)-t, cdbSNP:141524122
complement(2325)-g, cdbSNP:148340466
complement(2399)-t, cdbSNP:143402071
Gene SymbolEPOR
Gene SynonymEPO-R
Chromosome19
Locus Map19p13.3-p13.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000121 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. Full Length $713.11
ORF Sequence $442.83
Title T-cell acute leukemia 1 (TAL1) regulation of erythropoietin receptor and association with excessive erythrocytosis .
Author Rogers,H., Wang,L., Yu,X., Alnaeeli,M., Cui,K., Zhao,K., Bieker,J.J., Prchal,J., Huang,S., Weksler,B. and Noguchi,C.T.
Journal J. Biol. Chem. 287 (44), 36720-36731 (2012)
Title The erythropoietin/erythropoietin receptor signaling pathway promotes growth and invasion abilities in human renal carcinoma cells .
Author Wu,P., Zhang,N., Wang,X., Zhang,C., Li,T., Ning,X. and Gong,K.
Journal PLoS ONE 7 (9), E45122 (2012)
Title Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia .
Author Kastner,A., Grube,S., El-Kordi,A., Stepniak,B., Friedrichs,H., Sargin,D., Schwitulla,J., Begemann,M., Giegling,I., Miskowiak,K.W., Sperling,S., Hannke,K., Ramin,A., Heinrich,R., Gefeller,O., Nave,K.A., Rujescu,D. and Ehrenreich,H.
Journal Mol. Med. 18, 1029-1040 (2012)
Title Clinical significance of erythropoietin receptor expression in oral squamous cell carcinoma .
Author Lin,Y.T., Chuang,H.C., Chen,C.H., Armas,G.L., Chen,H.K., Fang,F.M., Huang,C.C. and Chien,C.Y.
Journal BMC Cancer 12, 194 (2012)
Title A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells .
Author Nakamura,Y., Komatsu,N. and Nakauchi,H.
Journal Science 257 (5073), 1138-1141 (1992)
Title In vitro phosphorylation of the erythropoietin receptor and an associated protein, pp130 .
Author Yoshimura,A. and Lodish,H.F.
Journal Mol. Cell. Biol. 12 (2), 706-715 (1992)
Title Genomic organization of the human erythropoietin receptor gene .
Author Penny,L.A. and Forget,B.G.
Journal Genomics 11 (4), 974-980 (1991)
Title Cloning of the gene encoding the human erythropoietin receptor .
Author Maouche,L., Tournamille,C., Hattab,C., Boffa,G., Cartron,J.P. and Chretien,S.
Journal Blood 78 (10), 2557-2563 (1991)
Title The erythropoietin receptor gene: cloning and identification of multiple transcripts in an erythroid cell line OCIM1 .
Author Ehrenman,K. and St John,T.
Journal Exp. Hematol. 19 (9), 973-977 (1991)
Title Human erythropoietin receptor: cloning, expression, and biologic characterization .
Author Jones,S.S., D'Andrea,A.D., Haines,L.L. and Wong,G.G.
Journal Blood 76 (1), 31-35 (1990)

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