cubilin

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/02 20:38:55」(JST)

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Cubilin (intrinsic factor-cobalamin receptor)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3KQ4
Identifiers
Symbols	CUBN ; IFCR; MGA1; gp280
External IDs	OMIM: 602997 MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN Gene
Gene ontology Molecular function • receptor activity • transporter activity • calcium ion binding • protein binding • cobalamin binding • protein homodimerization activity Cellular component • lysosomal membrane • endoplasmic reticulum • Golgi apparatus • cytosol • plasma membrane • coated pit • endosome membrane • membrane • apical plasma membrane • endocytic vesicle • extrinsic component of external side of plasma membrane • brush border membrane • lysosomal lumen • extracellular vesicular exosome Biological process • tissue homeostasis • vitamin metabolic process • water-soluble vitamin metabolic process • receptor-mediated endocytosis • steroid metabolic process • cholesterol metabolic process • cobalamin metabolic process • cobalamin transport • lipoprotein metabolic process • vitamin D metabolic process • lipoprotein transport • small molecule metabolic process 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: 16.87 – 17.17 Mb	Chr 2: 13.28 – 13.49 Mb
PubMed search	[1]	[2]

Cubilin is a protein that in humans is encoded by the CUBN gene.

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. A complex of amnionless and cubilin forms the cubam receptor.

References

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. doi:10.1074/jbc.272.42.26497. PMID 9334227. 
• 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. doi:10.1074/jbc.274.10.6374. PMID 10037728. 
• 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. 
• 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. 
• 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. doi:10.1172/JCI8862. PMC 315466. PMID 10811843. 
• 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. doi:10.1074/jbc.M010679200. PMID 11278724. 
• 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. doi:10.1073/pnas.211291398. PMC 60081. PMID 11606717. 
• 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. PMC 61138. PMID 11717447. 
• 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. 
• 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. 
• 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. 
• 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. doi:10.1186/1471-213X-6-30. PMC 1533814. PMID 16787536. 

UpToDate Contents

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• 1. ビタミンB12および葉酸欠乏症の病因および臨床症状 etiology and clinical manifestations of vitamin b12 and folate deficiency
• 2. ビタミンB12および葉酸欠乏症の生理学 physiology of vitamin b12 and folate deficiency
• 3. ビタミンDの概要 overview of vitamin d
• 4. 有機酸血症 organic acidemias

English Journal

• The association between vitamin B12, albuminuria and reduced kidney function: an observational cohort study.

• McMahon GM, Hwang SJ, Tanner RM, Jacques PF, Selhub J, Muntner P, Fox CS.
• BMC nephrology.BMC Nephrol.2015 Feb 2;16(1):7. [Epub ahead of print]
• BACKGROUND: Variants in CUBN, the gene encoding cubilin, a proximal tubular transport protein, have been associated with albuminuria and vitamin B12 (B12) deficiency. We hypothesized that low levels of B12 would be associated with albuminuria in a population-based cohort.METHODS: We analyzed partici
• PMID 25644490

• Comparative response of rat and rabbit conceptuses in vitro to inhibitors of histiotrophic nutrition.

• Marshall VA1, Johnson KJ, Moore NP, Rasoulpour RJ, Tornesi B, Carney EW.
• Birth defects research. Part B, Developmental and reproductive toxicology.Birth Defects Res B Dev Reprod Toxicol.2015 Feb;104(1):1-10. doi: 10.1002/bdrb.21134. Epub 2015 Feb 4.
• Histiotrophic nutrition via the visceral yolk sac is an essential nutritional pathway of the rodent conceptus, and inhibition of this pathway may cause growth retardation, malformations, and death in rodent embryos. Morphologic differences among species during early development indicate that the vis
• PMID 25652268

• Interactions of vitamin D and the proximal tubule.

• Chesney RW1.
• Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2015 Jan 25. [Epub ahead of print]
• Severe vitamin D deficiency (reduction in serum 25(OH)D concentration) in infants and children can cause features of the Fanconi syndrome, including phosphaturia, glycosuria, aminoaciduria, and renal tubular acidosis. This indicates that vitamin D and its metabolites influence proximal tubule functi
• PMID 25618772

Japanese Journal

• キュビリン断片およびアムニオンレス遺伝子を安定発現する培養近位尿細管上皮細胞の樹立とその機能解析

• 鈴木 哲世
• 新潟医学会雑誌 126(2), 87-95, 2012-02
• NAID 40019380675

• キュビリン断片およびアムニオンレス遺伝子を安定発現する培養近位尿細管上皮細胞の樹立とその機能解析

• 鈴木 哲世,Suzuki Akiyo
• 新潟医学会雑誌 126(2), 87-95, 2012-02
• 腎臓の近位尿細管上皮細胞において, 糸球体濾過タンパク質の再吸収 (エンドサイトーシス) に重要な役割を担っている分子がメガリン, キュビリン, アムニオンレスである. メガリンは膜貫通領域を持つ巨大分子であるが, キュビリンは膜貫通領域を持たず, 膜貫通領域を持つ分子であるアムニオンレスと結合し, 複合体を形成する. メガリンとキュビリン-アムニオンレス複合体は互いに協調的に機能すると考えられて …
• NAID 120005525450

• Megalin/Cubilin-mediated Uptake of FITC-labeled IgG by OK Kidney Epithelial Cells

• NAGAI Junya,SATO Koya,YUMOTO Ryoko,TAKANO Mikihisa
• Drug Metabolism and Pharmacokinetics 26(5), 474-485, 2011
• …   In this paper, we characterize the uptake mechanism of fluorescein isothiocyanate-labeled human immunoglobulin G (FITC-hIgG) in opossum kidney (OK) epithelial cells, which have been shown to express megalin and cubilin. … In addition, FITC-hIgG uptake was inhibited by various megalin and/or cubilin ligands including albumin, cytochrome c, transferrin and gentamicin. …
• NAID 130004463211

Related Links

• 抗 ラット Cubilin ポリクローナル抗体

Code No.KR065 Cubilin は腎臓の近位尿細管上皮細胞において、Megalin と共に、エンドサイトーシス（細胞膜の動的変形に よる細胞外成分の吸収）に働きます。リガンドとしては、ビタミンB12-トランスコバラミン、ビタミンD 結合蛋白、ア

• Cubilin 抗体 / Cubilin 抗体 | Santa Cruz Biotech

Buy Cubilin family antibodies from Santa Cruz. Select a Cubilin family antibody from 5 polyclonal antibodies. Cubilin si/shRNA gene silencer products also available. ... Introducing HOVERcruz , a unique system for rapid ...

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リンク元	「キュビリン」「intrinsic factor-cobalamin receptor」

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cubilin

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内因子コバラミン受容体

「intrinsic factor-cobalamin receptor」

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内因子コバラミン受容体

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cubilin