Cubilin

CUBN

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
3KQ4

Identifiers

Aliases

CUBN, IFCR, MGA1, gp280, cubilin

External IDs

MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN

Gene ontology
Molecular function	• calcium ion binding • protein homodimerization activity • protein binding • transporter activity • cobalamin binding • metal ion binding • receptor activity
Cellular component	• brush border • extrinsic component of external side of plasma membrane • endoplasmic reticulum • clathrin-coated pit • lysosomal membrane • cytoplasm • Golgi apparatus • endosome • brush border membrane • apical part of cell • lysosome • lysosomal lumen • membrane • cytosol • extracellular exosome • endocytic vesicle • apical plasma membrane • endosome membrane • plasma membrane
Biological process	• tissue homeostasis • cobalamin transport • lipid metabolic process • protein transport • cholesterol metabolic process • vitamin D metabolic process • cobalamin metabolic process • steroid metabolic process • endocytosis • lipoprotein transport • receptor-mediated endocytosis • high-density lipoprotein particle clearance • transport
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


8029


65969

Ensembl


ENSG00000107611


ENSMUSG00000026726

UniProt


O60494


Q9JLB4

RefSeq (mRNA)


NM_001081


NM_001081084

RefSeq (protein)


NP_001072


NP_001074553

Location (UCSC)

Chr 10: 16.82 – 17.13 Mb

Chr 2: 13.28 – 13.49 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Cubilin is a protein that in humans is encoded by the CUBN gene.^[3]^[4]^[5]

Function

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.^[5] A complex of amnionless and cubilin forms the cubam receptor. It can be found in the proximal tubule forming part complexes with megalin; the function of these complexes is reabsorptive and can be inhibited by sodium maleate.^[6]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK (Jun 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.
↑ Moestrup SK, Kozyraki R, Kristiansen M, Kaysen JH, Rasmussen HH, Brault D, Pontillon F, Goda FO, Christensen EI, Hammond TG, Verroust PJ (Mar 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. doi:10.1074/jbc.273.9.5235.
1 2 "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".
↑ Blazquez-Medela, AM; Garcia-Sanchez, O; Blanco-Gozalo, V; Quiros, Y; Montero, MJ; Martinez-Salgado, C; Lopez-Novoa, JM; Lopez-Hernandez, FJ (2014). "Hypertension and hyperglycemia synergize to cause incipient renal tubular alterations resulting in increased NGAL urinary excretion in rats.". PLoS ONE. 9 (8): e105988. PMID 25148248. doi:10.1371/journal.pone.0105988.

Christensen EI, Birn H (2002). "Megalin and cubilin: multifunctional endocytic receptors.". Nat. Rev. Mol. Cell Biol. 3 (4): 256–66. PMID 11994745. doi:10.1038/nrm778.
Bork P, Beckmann G (1993). "The CUB domain. A widespread module in developmentally regulated proteins.". J. Mol. Biol. 231 (2): 539–45. PMID 8510165. doi:10.1006/jmbi.1993.1305.
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. doi:10.1074/jbc.272.42.26497.
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.
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. doi:10.1074/jbc.274.10.6374.
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. PMID 10080186. doi:10.1038/6831.
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. PMID 10371504. doi:10.1038/9504.
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.
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. PMC 315466 . PMID 10811843. doi:10.1172/JCI8862.
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.
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. PMID 11278724. doi:10.1074/jbc.M010679200.
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.
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. PMC 60081 . PMID 11606717. doi:10.1073/pnas.211291398.
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. PMC 61138 . PMID 11717447. doi:10.1073/pnas.241516998.
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. PMID 11788601. doi:10.1074/jbc.M111399200.
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. PMID 11856751. doi:10.1074/jbc.M200331200.
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. PMID 12687456. doi:10.1007/s00467-003-1128-y.
Smith, BT; Mussell, JC; Fleming, PA; Barth, JL; Spyropoulos, DD; Cooley, MA; Drake, CJ; Argraves, WS (2006). "Targeted disruption of cubilin reveals essential developmental roles in the structure and function of endoderm and in somite formation.". BMC Developmental Biology. 6: 30. PMC 1533814 . PMID 16787536. doi:10.1186/1471-213X-6-30.

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Cubilin

Function

References

Further reading