Cubilin

CUBN
Identifiers
Aliases	CUBN, IFCR, MGA1, gp280, cubilin, IGS, IGS1
External IDs	OMIM: 602997; MGI: 1931256; HomoloGene: 37434; GeneCards: CUBN; OMA:CUBN - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3KQ4
Gene location (Human)
Chr.	Chromosome 10 (human)
End	17,129,811 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	13,496,624 bp
RNA expression pattern
	Top expressed in
	kidney tubule; ; glomerulus; ; renal medulla; ; metanephric glomerulus; ; sperm; ; oocyte; ; right uterine tube; ; human kidney; ; gonad; ; secondary oocyte;
	Top expressed in
	primitive streak; ; yolk sac; ; ileum; ; human kidney; ; epithelium of small intestine; ; intestinal villus; ; jejunum; ; epithelium of lens; ; Ileal epithelium; ; right kidney;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein homodimerization activity; protein binding; transporter activity; cobalamin binding; metal ion binding; channel regulator activity; hemoglobin binding; signaling receptor activity; cargo 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; 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; synapse;
Biological process	tissue 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 homotrimerization;
	Sources:Amigo / QuickGO
Orthologs
	8029
	65969
	ENSG00000107611
	ENSMUSG00000026726
	O60494
	Q9JLB4
	NM_001081
	NM_001081084
	NP_001072
	NP_001074553
	Wikidata
View/Edit Human	View/Edit Mouse

Cubilin is a protein that in humans is encoded by the CUBN gene.^[5]^[6]^[7] It is present upon the luminal surface of enterocytes of the ileum where it facilitates absorption of vitamin B12 by acting as a receptor for IF-cobalamin (intrinsic factor - vitamin B12) complexes, enabling endocytosis of complexes by means of amnionless (AMN).^[8]^[9]

Biochemistry

Cubilinis essentially only present in the small intestine and kidneys.^[10]

A complex of amnionless and cubilin forms the cubam receptor.^[11]

Clinical significance

Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.^[7]

Cubilin is a potential diagnostic and prognostic cancer biomarker for kidney cancer.^[12] Based on patient survival data, high levels of cubilin in tumor cells is a favourable prognostic biomarker in renal cell carcinoma.^[13]^[14]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000107611 – Ensembl, May 2017
1 2 3 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, et al. (June 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): 3593–3600. doi:10.1182/blood.V91.10.3593. PMID 9572993.
↑ Moestrup SK, Kozyraki R, Kristiansen M, Kaysen JH, Rasmussen HH, Brault D, et al. (March 1998). "The intrinsic factor-vitamin B₁₂ receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins". The Journal of Biological Chemistry. 273 (9): 5235–5242. doi:10.1074/jbc.273.9.5235. PMID 9478979.
1 2 "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".
↑ Viola-Villegas N, Rabideau AE, Bartholomä M, Zubieta J, Doyle RP (August 2009). "Targeting the cubilin receptor through the vitamin B(12) uptake pathway: cytotoxicity and mechanistic insight through fluorescent Re(I) delivery". Journal of Medicinal Chemistry. 52 (16): 5253–5261. doi:10.1021/jm900777v. PMID 19627091.
↑ Loscalzo J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, eds. (2022). Harrison's principles of internal medicine (21st ed.). New York: McGraw Hill. ISBN 978-1-264-26851-1.
↑ "Tissue expression of CUBN - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.
↑ Kozyraki R, Cases O (2013). "Cubilin, the intrinsic factor-vitamin B12 receptor". Biochimica et Biophysica Acta. 1832 (10): 1563–1568. doi:10.1016/j.bbadis.2013.05.012.
↑ Gremel G, Djureinovic D, Niinivirta M, Laird A, Ljungqvist O, Johannesson H, et al. (January 2017). "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. PMC 5215231. PMID 28052770.
↑ Uhlen M, Zhang C, Lee S, Sjöstedt E, Fagerberg L, Bidkhori G, et al. (August 2017). "A pathology atlas of the human cancer transcriptome". Science. 357 (6352) eaan2507. New York, N.Y. doi:10.1126/science.aan2507. PMID 28818916.
↑ "Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.

External links

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 adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000107611 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026726 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Kozyraki_1998-5] Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, et al. (June 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): 3593–3600. doi:10.1182/blood.V91.10.3593. PMID 9572993.

[Moestrup_1998-6] Moestrup SK, Kozyraki R, Kristiansen M, Kaysen JH, Rasmussen HH, Brault D, et al. (March 1998). "The intrinsic factor-vitamin B₁₂ receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins". The Journal of Biological Chemistry. 273 (9): 5235–5242. doi:10.1074/jbc.273.9.5235. PMID 9478979.

[entrez-7] 1 2 "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".

[Viola-Villegas_2009-8] Viola-Villegas N, Rabideau AE, Bartholomä M, Zubieta J, Doyle RP (August 2009). "Targeting the cubilin receptor through the vitamin B(12) uptake pathway: cytotoxicity and mechanistic insight through fluorescent Re(I) delivery". Journal of Medicinal Chemistry. 52 (16): 5253–5261. doi:10.1021/jm900777v. PMID 19627091.

[9] Loscalzo J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, eds. (2022). Harrison's principles of internal medicine (21st ed.). New York: McGraw Hill. ISBN 978-1-264-26851-1.

[10] "Tissue expression of CUBN - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.

[11] Kozyraki R, Cases O (2013). "Cubilin, the intrinsic factor-vitamin B12 receptor". Biochimica et Biophysica Acta. 1832 (10): 1563–1568. doi:10.1016/j.bbadis.2013.05.012.

[12] Gremel G, Djureinovic D, Niinivirta M, Laird A, Ljungqvist O, Johannesson H, et al. (January 2017). "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. PMC 5215231. PMID 28052770.

[13] Uhlen M, Zhang C, Lee S, Sjöstedt E, Fagerberg L, Bidkhori G, et al. (August 2017). "A pathology atlas of the human cancer transcriptome". Science. 357 (6352) eaan2507. New York, N.Y. doi:10.1126/science.aan2507. PMID 28818916.

[14] "Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.

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Cubilin

Biochemistry

Clinical significance

References

Further reading

External links