TFRC

Transferrin receptor protein 1 (TR) (TfR) (TfR1) (Trfr) (T9) (p90) (CD antigen CD71) [Cleaved into: Transferrin receptor protein 1, serum form (sTfR)]

Homo sapiens (Human)

84871

760

Pending Verification

Transferrin receptor protein 1 (TR) (TfR) (TfR1) (Trfr) (T9) (p90) (CD antigen CD71) [Cleaved into: Transferrin receptor protein 1, serum form (sTfR)]

Immunodeficiency 46 (IMD46) [MIM:616740]: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. {ECO:0000269|PubMed:26642240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

MUTAGEN 9 12 FSNL->YTRF: Only 80% as active as wild-type receptor.; MUTAGEN 20 34 YTRFSLARQVDGDNS->PPGYSLARQVDYTRF: No influence on endocytic uptake of the receptor.; MUTAGEN 20 23 YTRF->PPGY: Only 16% as active as wild-type receptor. {ECO:0000269|PubMed:8408022}.; MUTAGEN 20 20 Y->C: Only 35% as active as wild-type receptor. {ECO:0000269|PubMed:2298808, ECO:0000269|PubMed:2327986, ECO:0000269|PubMed:8408022}.; MUTAGEN 20 20 Y->G: Only 20% as active as wild-type receptor. {ECO:0000269|PubMed:2298808, ECO:0000269|PubMed:2327986, ECO:0000269|PubMed:8408022}.; MUTAGEN 21 21 T->F: Only 88% as active as wild-type receptor. {ECO:0000269|PubMed:8408022}.; MUTAGEN 21 21 T->TA: Only 14% as active as wild-type receptor. {ECO:0000269|PubMed:8408022}.; MUTAGEN 21 21 T->TAA: Only 19% as active as wild-type receptor. {ECO:0000269|PubMed:8408022}.; MUTAGEN 23 23 F->Y: Only 48% as active as wild-type receptor. {ECO:0000269|PubMed:8408022}.; MUTAGEN 31 34 GDNS->YTRF: 2-fold increase of the endocytic uptake of the receptor.; MUTAGEN 47 50 NADN->YTRF: 1.27-fold increase of the endocytic uptake of the receptor.; MUTAGEN 619 619 L->A: 20-fold reduced affinity for transferrin receptor. No binding to HFE.; MUTAGEN 622 622 V->A: No significant effect on binding to transferrin nor HFE.; MUTAGEN 623 623 R->A: No significant effect on binding to transferrin nor HFE.; MUTAGEN 629 629 R->A: >5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE.; MUTAGEN 640 640 Q->A: No effect on binding to transferrin. >10-fold reduced affinity for HFE.; MUTAGEN 641 641 W->A: No significant effect on binding to transferrin nor HFE.; MUTAGEN 643 643 Y->A: 20-fold reduced affinity for transferrin. No binding to HFE.; MUTAGEN 644 644 S->A: No significant effect on binding to transferrin nor HFE.; MUTAGEN 646 646 R->A,H: No binding to transferrin. {ECO:0000269|PubMed:10377239}.; MUTAGEN 646 646 R->K: 5% binding to transferrin. {ECO:0000269|PubMed:10377239}.; MUTAGEN 647 647 G->A: Large effect on affinity for transferrin. 4-fold reduced affinity for HFE. {ECO:0000269|PubMed:10377239}.; MUTAGEN 648 648 D->A: 16% binding to transferrin. {ECO:0000269|PubMed:10377239}.; MUTAGEN 648 648 D->E: 57% binding to transferrin. {ECO:0000269|PubMed:10377239}.; MUTAGEN 650 650 F->Q: >5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE.

MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF

Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240). {ECO:0000250, ECO:0000269|PubMed:26642240, ECO:0000269|PubMed:3568132}.; (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus. {ECO:0000269|PubMed:17287727, ECO:0000269|PubMed:18268337}.

Beta strand (27); Chain (2); Disulfide bond (2); Domain (1); Erroneous initiation (1); Glycosylation (4); Helix (26); Lipidation (2); Modified residue (5); Motif (3); Mutagenesis (25); Natural variant (5); Region (2); Sequence conflict (3); Site (1); Topological domain (2); Transmembrane (1); Turn (13); Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients.; Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.; Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3'-UTR. Up-regulated upon mitogenic stimulation.

Transferrin receptor protein 1 (TR) (TfR) (TfR1) (Trfr) (T9) (p90) (CD antigen CD71) [Cleaved into: Transferrin receptor protein 1, serum form (sTfR)]

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.