Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin

FASEB Journal

Volumn 27, Issue 8, 2013, Pages 2988-2994

  Jiang, Wenxia ^a,d   Nakayama, Yasumi ^b   Sequeira, Jeffrey M ^b   Quadros, Edward V ^b,c  

^a School of Graduate Studies   (United States)

^b Downstate Health Sciences University   (United States)

^c SUNY DOWNSTATE MEDICAL CENTER   (United States)

^d Department of Medicine   (United States)

Author keywords

Calcium binding domain; Cytoplasmic domain; Hek293 cells; LDLR A; Qdots; Vitamin B12

Indexed keywords

CALCIUM ION; COBALAMIN; CYSTEINE; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW-DENSITY LIPOPROTEIN RECEPTOR TYPE A; MEMBRANE RECEPTOR; MEMBRANE RECEPTOR CD320; TRANSCOBALAMIN; UNCLASSIFIED DRUG; CD320 ANTIGEN, HUMAN; CYANOCOBALAMIN; GREEN FLUORESCENT PROTEIN; LDLR PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; LIGAND; PROTEIN BINDING;

AMINO ACID SEQUENCE; ARTICLE; BINDING AFFINITY; CALCIUM BINDING; CONTROLLED STUDY; CYTOPLASM; EXTRACELLULAR MATRIX; GENE DELETION; GENE MUTATION; HUMAN; INTERNALIZATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN GLYCOSYLATION; SITE DIRECTED MUTAGENESIS; BINDING COMPETITION; BINDING SITE; ENDOCYTOSIS; FLUORESCENCE MICROSCOPY; GENETICS; HEK293 CELL LINE; KINETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; PDZ DOMAIN; PROCEDURES; PROTEIN ANALYSIS; PROTEIN MOTIF;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANTIGENS, CD; BINDING SITES; BINDING, COMPETITIVE; ENDOCYTOSIS; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; KINETICS; LIGANDS; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; PDZ DOMAINS; PROTEIN BINDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN INTERACTION MAPPING; RECEPTORS, LDL; SEQUENCE DELETION; TRANSCOBALAMINS; VITAMIN B 12;

EID: 84881120367     PISSN: None     EISSN: 15306860     Source Type: Journal    
DOI: 10.1096/fj.13-230185     Document Type: Article

References (27)

1. Weissbach, H., and Taylor, R. (1966) Role of vitamin B12 in methionine synthesis. Fed. Proc. 25, 1649-1656
2. Cannata, J. J., Focesi, A., Jr., Mazumder, R., Warner, R. C., and Ochoa, S. (1965) Metabolism of propionic acid in animal tissues. XII. Properties of mammalian methylmalonyl coenzyme A mutase. J. Biol. Chem. 240, 3249-3257
3. Fyfe, J. C., Madsen, M., Hojrup, P., Christensen, E. I., Tanner, S. M., de la Chapelle, A., He, Q., and Moestrup, S. K. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood 103, 1573-1579
4. Quadros, E. V., Regec, A. L., Khan, K. M., Quadros, E., and Rothenberg, S. P. (1999) Transcobalamin II synthesized in the intestinal villi facilitates transfer of cobalamin to the portal blood. Am. J. Physiol. 277, G161-G166
5. Quadros, E. V., Nakayama, Y., and Sequeira, J. M. (2009) The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin. Blood 113, 186-192
6. DiGirolamo, P. M., and Huennekens, F. M. (1975) Transport of vitamin B12 into mouse leukemia cells. Arch. Biochem. Biophys. 168, 386-393
7. Hall, C. A. (1984) The uptake of vitamin B12 by human lymphocytes and the relationships to the cell cycle. J. Lab. Clin. Med. 103, 70-81
8. Amagasaki, T., Green, R., and Jacobsen, D. W. (1990) Expression of transcobalamin II receptors by human leukemia K562 and HL-60 cells. Blood 76, 1380-1386
9. Quadros, E. V., Lai, S. C., Nakayama, Y., Sequeira, J. M., Hannibal, L., Wang, S., Jacobsen, D. W., Fedosov, S., Wright, E., Gallagher, R. C., Anastasio, N., Watkins, D., and Rosenblatt, D. S. (2010) Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12. Hum. Mutat. 31, 924-929
10. Quadros, E. V., Nakayama, Y., and Sequeira, J. M. (2005) The binding properties of the human receptor for the cellular uptake of vitamin B12. Biochem. Biophys. Res. Commun. 327, 1006-1010
11. Jiang, W., Nakayama, Y., Sequeira, J. M., and Quadros, E. V. (2011) Characterizing monoclonal antibodies to antigenic domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin. Drug Deliv. 18, 74-78
12. Cooper, B. A., and Paranchych, W. (1961) Selective uptake of specifically bound cobalt-58 vitamin B12 by human and mouse tumour cells. Nature 191, 393-395
13. Sennett, C., Rosenberg, L. E., and Mellman, I. S. (1981) Transmembrane transport of cobalamin in prokaryotic and eukaryotic cells. Annu. Rev. Biochem. 50, 1053-1086
14. Moestrup, S. K., Birn, H., Fischer, P. B., Petersen, C. M., Verroust, P. J., Sim, R. B., Christensen, E. I., and Nexo, E. (1996) Megalin-mediated endocytosis of transcobalamin-vitamin-B12 complexes suggests a role of the receptor in vitamin-B12 homeostasis. Proc. Natl. Acad. Sci. U. S. A. 93, 8612-8617
15. Ratschmann, R., Minkov, M., Kis, A., Hung, C., Rupar, T., Muhl, A., Fowler, B., Nexo, E., and Bodamer, O. A. (2009) Transcobalamin II deficiency at birth. Mol. Genet. Metab. 98, 285-288
16. Esser, V., Limbird, L. E., Brown, M. S., Goldstein, J. L., and Russell, D. W. (1988) Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J. Biol. Chem. 263, 13282-13290
17. Bu, G. (2001) The roles of receptor-associated protein (RAP) as a molecular chaperone for members of the LDL receptor family. Int. Rev. Cytol. 209, 79-116
18. Van Driel, I. R., Goldstein, J. L., Sudhof, T. C., and Brown, M. S. (1987) First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins. J. Biol. Chem. 262, 17443-17449
19. Bieri, S., Djordjevic, J. T., Daly, N. L., Smith, R., and Kroon, P. A. (1995) Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain. Biochemistry 34, 13059-13065
20. Fass, D., Blacklow, S., Kim, P. S., and Berger, J. M. (1997) Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module. Nature 388, 691-693
21. Brown, M. S., Herz, J., and Goldstein, J. L. (1997) LDL-receptor structure. Calcium cages, acid baths and recycling receptors. Nature 388, 629-630
22. Kurniawan, N. D., Atkins, A. R., Bieri, S., Brown, C. J., Brereton, I. M., Kroon, P. A., and Smith, R. (2000) NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor. Protein Sci. 9, 1282-1293
23. Andersen, O. M., Christensen, L. L., Christensen, P. A., Sorensen, E. S., Jacobsen, C., Moestrup, S. K., Etzerodt, M., and Thogersen, H. C. (2000) Identification of the minimal functional unit in the low density lipoprotein receptor-related protein for binding the receptor-associated protein (RAP). A conserved acidic residue in the complement-type repeats is important for recognition of RAP. J. Biol. Chem. 275, 21017-21024
24. Quadros, E. V., Sai, P., and Rothenberg, S. P. (1994) Characterization of the human placental membrane receptor for transcobalamin II-cobalamin. Arch. Biochem. Biophys. 308, 192-199
25. Bonifacino, J. S., and Traub, L. M. (2003) Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu. Rev. Biochem. 72, 395-447
26. Letourneur, F., and Klausner, R. D. (1992) A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains. Cell 69, 1143-1157
27. Nourry, C., Grant, S. G., and Borg, J. P. (2003) PDZ domain proteins: plug and play! Sci. STKE 2003, RE7