Transferrin R

Gene Synonyms:

Protein Names:

Organism:

Homo sapiens (Human)

Mass (kDa):

84871

Length (aa):

760

Sequence:

MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF

Proteomics (Proteome ID):

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

Proteomics (Chromosome):

UP000005640

Mass Spectrometry:

N/A

Function [CC]:

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}.

Metal Binding:

N/A

Site:

SITE 100 101 Cleavage; by trypsin; to produce soluble form.

Tissue Specificity:

N/A

Disease:

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.

Mutagenesis:

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.

Name:

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

Class:

Subcategory:

Recombinant

Source:

Species:

Human

Amino Acid Sequence:

Tag:

Format:

Lyophilized

Formulation:

Sterile-filtered colorless solution

Formulation Concentration:

1mg/ml

Buffer Volume:

Standard

Buffer Solution:

PBS

pH:

7.4-7.5

NaCl:

Null

EDTA:

Null

Purity:

> 98%

Determined:

SDS-PAGE

Stained:

Inquire

Validated:

RP-HPLC

Storage:

-20°C

Stability:

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.

Preparation:

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.