Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.
| RefSeq Version | NM_000121.3, 296040523 |
| Length | 2459 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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. 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 | Exon (1) | 1..250 | Exon (2) | 1..250 | Exon (3) | 251..386 | Exon (4) | 387..562 | Exon (5) | 563..720 | Exon (6) | 721..874 | Exon (7) | 875..962 | Exon (8) | 963..1050 | Exon (9) | 1051..2441 |
| Translation | MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDL
VCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPL
ELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVVLRWLPPPETPMTSHIRY
EVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPV
SLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTH
KGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVG
SEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGAS
AASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGL
SDGPYSNPYENSLIPAAEPLPPSYVACS
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| Position | Chain | Variation | Link |
| 13 | + | c, t | dbSNP:316500 |
| complement(272) | - | t, c | dbSNP:45516306 |
| complement(303) | - | c, a | dbSNP:35977803 |
| complement(573) | - | g, a | dbSNP:114645751 |
| complement(693) | - | g, a | dbSNP:117290674 |
| complement(774) | - | g, c | dbSNP:61729445 |
| complement(792) | - | t, g | dbSNP:61729384 |
| complement(1048) | - | g, a | dbSNP:60825798 |
| complement(1179) | - | t, c | dbSNP:60476134 |
| complement(1246) | - | g, a | dbSNP:35586415 |
| complement(1273) | - | g, c | dbSNP:35423344 |
| complement(1292..1293) | - | , g | dbSNP:34486271 |
| 1413 | + | c, g | dbSNP:121917831 |
| complement(1445) | - | t, c | dbSNP:62638744 |
| 1451 | + | a, g | dbSNP:121917830 |
| 1452 | + | a, g | dbSNP:121918116 |
| 1595 | + | a, c, g, t | dbSNP:62638745 |
| complement(1667) | - | g, a | dbSNP:112348054 |
| complement(1850) | - | c, a | dbSNP:116864234 |
| Gene Symbol | EPOR |
| Gene Synonym | EPO-R; MGC138358 |
| Chromosome | 19 |
| Locus Map | 19p13.3-p13.2 |
| All Transcripts | NM_000121 |
| Title | Role of erythropoietin receptor signaling in parvovirus B19 replication in human erythroid progenitor cells . |
| Author | Chen,A.Y., Guan,W., Lou,S., Liu,Z., Kleiboeker,S. and Qiu,J. |
| Journal | J. Virol. 84 (23), 12385-12396 (2010) |
| Title | Erythropoietin receptor-like immunostaining on human spermatozoa . |
| Author | Tug,N., Kilic,U., Karateke,A., Yilmaz,B., Ugur,M. and Kilic,E. |
| Journal | Reprod. Biomed. Online 21 (5), 718-720 (2010) |
| Title | A diversity of antibody epitopes can induce signaling through the erythropoietin receptor . |
| Author | Lim,A.C., Ketchem,R.R., Borges,L., Carabeo,T., Carter,J., Hoover,J.E., Hu,Z., Wittekind,M., Zhou,H. and Mehlin,C. |
| Journal | Biochemistry 49 (18), 3797-3804 (2010) |
| Title | EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors . |
| Author | Perrotta,S., Cucciolla,V., Ferraro,M., Ronzoni,L., Tramontano,A., Rossi,F., Scudieri,A.C., Borriello,A., Roberti,D., Nobili,B., Cappellini,M.D., Oliva,A., Amendola,G., Migliaccio,A.R., Mancuso,P., Martin-Padura,I., Bertolini,F., Yoon,D., Prchal,J.T. and Della Ragione,F. |
| Journal | PLoS ONE 5 (8), E12015 (2010) |
| 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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