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. Cubilin shows a restricted mode of expression according to protein profiling and transcriptomics analyses,[8] and is essentially only present in the kidneys and small intestine.[9] Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.[7] A complex of amnionless and cubilin forms the cubam receptor.
^ abcGRCh38: Ensembl release 89: ENSG00000107611 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026726 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. doi:10.1182/blood.V91.10.3593. 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. doi:10.1074/jbc.273.9.5235. PMID 9478979.
^Uhlen, Mathias; Zhang, Cheng; Lee, Sunjae; Sjöstedt, Evelina; Fagerberg, Linn; Bidkhori, Gholamreza; Benfeitas, Rui; Arif, Muhammad; Liu, Zhengtao (2017-08-18). "A pathology atlas of the human cancer transcriptome". Science. 357 (6352): eaan2507. doi:10.1126/science.aan2507. ISSN 0036-8075. PMID 28818916.
^"Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.
Further readingEdit
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. S2CID 21893726.
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. doi:10.1152/ajprenal.1998.275.2.F246. 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. S2CID 21836060.
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. S2CID 9392624.
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. doi:10.1182/blood.V94.10.3604.422k22_3604_3606. 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. PMC315466. 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. doi:10.1182/blood.V96.2.405.014k16_405_409. PMID 10887099.
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. doi:10.1152/ajpendo.2001.281.5.E900. PMID 11595644. S2CID 1438500.
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. Bibcode:2001PNAS...9812491K. doi:10.1073/pnas.211291398. PMC60081. 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. PMC61138. 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. S2CID 10669019.
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. PMC1533814. PMID 16787536.
External linksEdit
Overview of all the structural information available in the PDB for UniProt: O60494 (Cubilin) at the PDBe-KB.
This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.
cubilin, protein, that, humans, encoded, cubn, gene, cubnavailable, structurespdbortholog, search, pdbe, rcsblist, codes3kq4identifiersaliasescubn, ifcr, mga1, gp280, cubilin, igs1external, idsomim, 602997, 1931256, homologene, 37434, genecards, cubngene, loca. Cubilin is a protein that in humans is encoded by the CUBN gene 5 6 7 CUBNAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3KQ4IdentifiersAliasesCUBN IFCR MGA1 gp280 cubilin IGS IGS1External IDsOMIM 602997 MGI 1931256 HomoloGene 37434 GeneCards CUBNGene location Human Chr Chromosome 10 human 1 Band10p13Start16 823 966 bp 1 End17 129 811 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 A1 2 9 86 cMStart13 281 149 bp 2 End13 496 624 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inkidney tubulekidneyglomerulusrenal medullametanephric glomerulusspermoocyteright uterine tubesecondary oocytetibial nerveTop expressed inprimitive streakyolk sackidneyileumintestinal villusjejunumPaneth cellciliary bodysubstantia nigraseminiferous tubuleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioncalcium ion binding protein homodimerization activity protein binding transporter activity cobalamin binding metal ion binding channel regulator activity hemoglobin binding signaling receptor activity cargo receptor activityCellular componentbrush border extrinsic component of external side of plasma membrane endoplasmic reticulum clathrin coated pit lysosomal membrane cytoplasm Golgi apparatus endosome apical part of cell lysosome lysosomal lumen membrane cytosol extracellular exosome endocytic vesicle endosome membrane plasma membrane apical plasma membrane brush border membrane Golgi associated vesicle ionotropic glutamate receptor complex coated vesicle endocytic vesicle membrane neuron projection membrane synapseBiological processtissue homeostasis cobalamin transport lipid metabolism 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 in utero embryonic development thigmotaxis hyperosmotic response response to nutrient adult locomotory behavior response to bacterium endocytic hemoglobin import into cell regulation of locomotion cobalamin catabolic process positive regulation of synaptic transmission glutamatergic protein homotrimerizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez802965969EnsemblENSG00000107611ENSMUSG00000026726UniProtO60494Q9JLB4RefSeq mRNA NM 001081NM 001081084RefSeq protein NP 001072NP 001074553Location UCSC Chr 10 16 82 17 13 MbChr 2 13 28 13 5 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction EditCubilin CUBN acts as a receptor for intrinsic factor vitamin B12 complexes The role of receptor is supported by the presence of 27 CUB domains Cubilin shows a restricted mode of expression according to protein profiling and transcriptomics analyses 8 and is essentially only present in the kidneys and small intestine 9 Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia 7 A complex of amnionless and cubilin forms the cubam receptor Clinical significance EditCubilin is a potential diagnostic and prognostic cancer biomarker for kidney cancer 10 Based on patient survival data high levels of cubilin in tumor cells is a favourable prognostic biomarker in renal cell carcinoma 11 12 References Edit a b c GRCh38 Ensembl release 89 ENSG00000107611 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000026726 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 doi 10 1182 blood V91 10 3593 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 doi 10 1074 jbc 273 9 5235 PMID 9478979 a b Entrez Gene CUBN cubilin intrinsic factor cobalamin receptor Uhlen Mathias Fagerberg Linn Hallstrom Bjorn M Lindskog Cecilia Oksvold Per Mardinoglu Adil Sivertsson Asa Kampf Caroline Sjostedt Evelina 2015 01 23 Tissue based map of the human proteome Science 347 6220 1260419 doi 10 1126 science 1260419 ISSN 0036 8075 PMID 25613900 S2CID 802377 Tissue expression of CUBN Summary The Human Protein Atlas www proteinatlas org Retrieved 2017 09 06 Gremel Gabriela Djureinovic Dijana Niinivirta Marjut Laird Alexander Ljungqvist Oscar Johannesson Henrik Bergman Julia Edqvist Per Henrik Navani Sanjay 2017 01 04 A systematic search strategy identifies cubilin as independent prognostic marker for renal cell carcinoma BMC Cancer 17 1 9 doi 10 1186 s12885 016 3030 6 ISSN 1471 2407 PMC 5215231 PMID 28052770 Uhlen Mathias Zhang Cheng Lee Sunjae Sjostedt Evelina Fagerberg Linn Bidkhori Gholamreza Benfeitas Rui Arif Muhammad Liu Zhengtao 2017 08 18 A pathology atlas of the human cancer transcriptome Science 357 6352 eaan2507 doi 10 1126 science aan2507 ISSN 0036 8075 PMID 28818916 Expression of CUBN in renal cancer The Human Protein Atlas www proteinatlas org Retrieved 2017 09 06 Further reading EditChristensen 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 S2CID 21893726 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 doi 10 1152 ajprenal 1998 275 2 F246 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 S2CID 21836060 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 S2CID 9392624 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 doi 10 1182 blood V94 10 3604 422k22 3604 3606 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 doi 10 1182 blood V96 2 405 014k16 405 409 PMID 10887099 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 doi 10 1152 ajpendo 2001 281 5 E900 PMID 11595644 S2CID 1438500 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 Bibcode 2001PNAS 9812491K 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 Froberg 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 S2CID 10669019 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 External links EditOverview of all the structural information available in the PDB for UniProt O60494 Cubilin at the PDBe KB nbsp This article on a gene on human chromosome 10 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Cubilin amp oldid 1172839193, wikipedia, wiki, book, books, library,
