EPOR

Erythropoietin receptor (EPO-R)

Homo sapiens (Human)

55065

508

Pending Verification

Erythropoietin receptor (EPO-R)

Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269|PubMed:8506290, ECO:0000269|PubMed:8608241}. Note=The disease is caused by mutations affecting the gene represented in this entry.

MUTAGEN 114 114 T->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 115 115 S->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 116 116 S->A: 10-fold reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 117 117 F->A,L: Greatly reduced EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 117 117 F->W: 60-fold reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 117 117 F->Y: 8-fold reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 118 118 V->A: 16-fold reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 120 120 L->A: Some reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 121 121 E->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 165 165 R->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 174 174 M->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 176 176 S->A: 16-fold reduction in EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 177 177 H->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 179 179 R->A: Little effect on EPO binding. {ECO:0000269|PubMed:8662939}.; MUTAGEN 454 454 Y->F: Some loss of SOCS3 binding. {ECO:0000269|PubMed:12027890}.; MUTAGEN 456 456 Y->F: Inhibition of STAT1/STAT3 activity. No effect on STAT5 activity. Some loss of SOCS3 binding. {ECO:0000269|PubMed:11756159, ECO:0000269|PubMed:12027890}.; MUTAGEN 468 468 Y->F: No effect on STAT1/STAT3 nor STAT5 activity. {ECO:0000269|PubMed:11756159}.

MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDLVCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVVLRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPVSLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTHKGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVACS

Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.; Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.

Alternative sequence (4); Beta strand (23); Chain (1); Cross-link (2); Disulfide bond (2); Domain (1); Glycosylation (1); Helix (7); Modified residue (8); Motif (3); Mutagenesis (17); Natural variant (3); Region (1); Sequence conflict (3); Signal peptide (1); Site (6); Topological domain (2); Transmembrane (1); Turn (5); Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early-stage erythroid progenitor cells.

Erythropoietin receptor (EPO-R)

Recombinant

HEK293

Lyophilized

7.4-7.5

Sterile-filtered colorless solution

1mg/ml

Standard

PBS

SDS-PAGE

> 98%

RP-HPLC

-20°C

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.