- CUBN
Cubilin (intrinsic factor-cobalamin receptor), also known as CUBN, is a human
gene .cite web | title = Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8029| accessdate = ]PBB_Summary
section_title =
summary_text = Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.cite web | title = Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8029| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Christensen EI, Birn H |title=Megalin and cubilin: multifunctional endocytic receptors. |journal=Nat. Rev. Mol. Cell Biol. |volume=3 |issue= 4 |pages= 256–66 |year= 2002 |pmid= 11994745 |doi= 10.1038/nrm778
*cite journal | author=Bork P, Beckmann G |title=The CUB domain. A widespread module in developmentally regulated proteins. |journal=J. Mol. Biol. |volume=231 |issue= 2 |pages= 539–45 |year= 1993 |pmid= 8510165 |doi= 10.1006/jmbi.1993.1305
*cite journal | author=Birn H, Verroust PJ, Nexo E, "et al." |title=Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein. |journal=J. Biol. Chem. |volume=272 |issue= 42 |pages= 26497–504 |year= 1997 |pmid= 9334227 |doi=
*cite journal | author=Moestrup SK, Kozyraki R, Kristiansen M, "et al." |title=The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins. |journal=J. Biol. Chem. |volume=273 |issue= 9 |pages= 5235–42 |year= 1998 |pmid= 9478979 |doi=
*cite journal | author=Kozyraki R, Kristiansen M, Silahtaroglu A, "et al." |title=The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. |journal=Blood |volume=91 |issue= 10 |pages= 3593–600 |year= 1998 |pmid= 9572993 |doi=
*cite journal | author=Batuman V, Verroust PJ, Navar GL, "et al." |title=Myeloma light chains are ligands for cubilin (gp280). |journal=Am. J. Physiol. |volume=275 |issue= 2 Pt 2 |pages= F246–54 |year= 1998 |pmid= 9691015 |doi=
*cite journal | author=Lindblom A, Quadt N, Marsh T, "et al." |title=The intrinsic factor-vitamin B12 receptor, cubilin, is assembled into trimers via a coiled-coil alpha-helix. |journal=J. Biol. Chem. |volume=274 |issue= 10 |pages= 6374–80 |year= 1999 |pmid= 10037728 |doi=
*cite journal | author=Aminoff M, Carter JE, Chadwick RB, "et al." |title=Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. |journal=Nat. Genet. |volume=21 |issue= 3 |pages= 309–13 |year= 1999 |pmid= 10080186 |doi= 10.1038/6831
*cite journal | author=Kozyraki R, Fyfe J, Kristiansen M, "et al." |title=The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. |journal=Nat. Med. |volume=5 |issue= 6 |pages= 656–61 |year= 1999 |pmid= 10371504 |doi= 10.1038/9504
*cite journal | author=Xu D, Kozyraki R, Newman TC, Fyfe JC |title=Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption. |journal=Blood |volume=94 |issue= 10 |pages= 3604–6 |year= 1999 |pmid= 10552972 |doi=
*cite journal | author=Birn H, Fyfe JC, Jacobsen C, "et al." |title=Cubilin is an albumin binding protein important for renal tubular albumin reabsorption. |journal=J. Clin. Invest. |volume=105 |issue= 10 |pages= 1353–61 |year= 2000 |pmid= 10811843 |doi=
*cite journal | author=Kristiansen M, Aminoff M, Jacobsen C, "et al." |title=Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. |journal=Blood |volume=96 |issue= 2 |pages= 405–9 |year= 2000 |pmid= 10887099 |doi=
*cite journal | author=Burmeister R, Boe IM, Nykjaer A, "et al." |title=A two-receptor pathway for catabolism of Clara cell secretory protein in the kidney. |journal=J. Biol. Chem. |volume=276 |issue= 16 |pages= 13295–301 |year= 2001 |pmid= 11278724 |doi= 10.1074/jbc.M010679200
*cite journal | author=Yammani RR, Seetharam S, Seetharam B |title=Cubilin and megalin expression and their interaction in the rat intestine: effect of thyroidectomy. |journal=Am. J. Physiol. Endocrinol. Metab. |volume=281 |issue= 5 |pages= E900–7 |year= 2001 |pmid= 11595644 |doi=
*cite journal | author=Kozyraki R, Fyfe J, Verroust PJ, "et al." |title=Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 22 |pages= 12491–6 |year= 2001 |pmid= 11606717 |doi= 10.1073/pnas.211291398
*cite journal | author=Nykjaer A, Fyfe JC, Kozyraki R, "et al." |title=Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 24 |pages= 13895–900 |year= 2002 |pmid= 11717447 |doi= 10.1073/pnas.241516998
*cite journal | author=Fedosov SN, Berglund L, Fedosova NU, "et al." |title=Comparative analysis of cobalamin binding kinetics and ligand protection for intrinsic factor, transcobalamin, and haptocorrin. |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 9989–96 |year= 2002 |pmid= 11788601 |doi= 10.1074/jbc.M111399200
*cite journal | author=Crider-Pirkle S, Billingsley P, Faust C, "et al." |title=Cubilin, a binding partner for galectin-3 in the murine utero-placental complex. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15904–12 |year= 2002 |pmid= 11856751 |doi= 10.1074/jbc.M200331200
*cite journal | author=Wahlstedt-Fröberg V, Pettersson T, Aminoff M, "et al." |title=Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption. |journal=Pediatr. Nephrol. |volume=18 |issue= 5 |pages= 417–21 |year= 2004 |pmid= 12687456 |doi= 10.1007/s00467-003-1128-yPBB_Controls
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