CUBN

Cubilin (intrinsic factor-cobalamin receptor)
Identifiers
Symbols	CUBN ; FLJ90055; FLJ90747; IFCR; MGA1; gp280
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37434
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Cubilin (intrinsic factor-cobalamin receptor), also known as CUBN, is a human gene.

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.

Further reading

• Christensen EI, Birn H (2002). "Megalin and cubilin: multifunctional endocytic receptors". Nat. Rev. Mol. Cell Biol. 3 (4): 256–66. doi:10.1038/nrm778. PMID 11994745.
• Bork P, Beckmann G (1993). "The CUB domain. A widespread module in developmentally regulated proteins". J. Mol. Biol. 231 (2): 539–45. doi:10.1006/jmbi.1993.1305. PMID 8510165.
• Birn H, Verroust PJ, Nexo E; et al. (1997). "Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein". J. Biol. Chem. 272 (42): 26497–504. PMID 9334227.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moestrup SK, Kozyraki R, Kristiansen M; et al. (1998). "The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins". J. Biol. Chem. 273 (9): 5235–42. PMID 9478979.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kozyraki R, Kristiansen M, Silahtaroglu A; et al. (1998). "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". Blood. 91 (10): 3593–600. PMID 9572993.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Batuman V, Verroust PJ, Navar GL; et al. (1998). "Myeloma light chains are ligands for cubilin (gp280)". Am. J. Physiol. 275 (2 Pt 2): F246–54. PMID 9691015.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lindblom A, Quadt N, Marsh T; et al. (1999). "The intrinsic factor-vitamin B12 receptor, cubilin, is assembled into trimers via a coiled-coil alpha-helix". J. Biol. Chem. 274 (10): 6374–80. PMID 10037728.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aminoff M, Carter JE, Chadwick RB; et al. (1999). "Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1". Nat. Genet. 21 (3): 309–13. doi:10.1038/6831. PMID 10080186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kozyraki R, Fyfe J, Kristiansen M; et al. (1999). "The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein". Nat. Med. 5 (6): 656–61. doi:10.1038/9504. PMID 10371504.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xu D, Kozyraki R, Newman TC, Fyfe JC (1999). "Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption". Blood. 94 (10): 3604–6. PMID 10552972.CS1 maint: Multiple names: authors list (link)
• Birn H, Fyfe JC, Jacobsen C; et al. (2000). "Cubilin is an albumin binding protein important for renal tubular albumin reabsorption". J. Clin. Invest. 105 (10): 1353–61. PMID 10811843.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kristiansen M, Aminoff M, Jacobsen C; et al. (2000). "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin". Blood. 96 (2): 405–9. PMID 10887099.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Burmeister R, Boe IM, Nykjaer A; et al. (2001). "A two-receptor pathway for catabolism of Clara cell secretory protein in the kidney". J. Biol. Chem. 276 (16): 13295–301. doi:10.1074/jbc.M010679200. PMID 11278724.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yammani RR, Seetharam S, Seetharam B (2001). "Cubilin and megalin expression and their interaction in the rat intestine: effect of thyroidectomy". Am. J. Physiol. Endocrinol. Metab. 281 (5): E900–7. PMID 11595644.CS1 maint: Multiple names: authors list (link)
• Kozyraki R, Fyfe J, Verroust PJ; et al. (2001). "Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia". Proc. Natl. Acad. Sci. U.S.A. 98 (22): 12491–6. doi:10.1073/pnas.211291398. PMID 11606717.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nykjaer A, Fyfe JC, Kozyraki R; et al. (2002). "Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3)". Proc. Natl. Acad. Sci. U.S.A. 98 (24): 13895–900. doi:10.1073/pnas.241516998. PMID 11717447.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fedosov SN, Berglund L, Fedosova NU; et al. (2002). "Comparative analysis of cobalamin binding kinetics and ligand protection for intrinsic factor, transcobalamin, and haptocorrin". J. Biol. Chem. 277 (12): 9989–96. doi:10.1074/jbc.M111399200. PMID 11788601.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Crider-Pirkle S, Billingsley P, Faust C; et al. (2002). "Cubilin, a binding partner for galectin-3 in the murine utero-placental complex". J. Biol. Chem. 277 (18): 15904–12. doi:10.1074/jbc.M200331200. PMID 11856751.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wahlstedt-Fröberg V, Pettersson T, Aminoff M; et al. (2004). "Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption". Pediatr. Nephrol. 18 (5): 417–21. doi:10.1007/s00467-003-1128-y. PMID 12687456.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)