Cubilin

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CUBN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCUBN, IFCR, MGA1, gp280, cubilin, IGS, IGS1
External IDsOMIM: 602997 MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081

NM_001081084

RefSeq (protein)

NP_001072

NP_001074553

Location (UCSC)Chr 10: 16.82 – 17.13 MbChr 2: 13.28 – 13.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cubilin is a protein that in humans is encoded by the CUBN gene.[5][6][7]

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. 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

Cubilin 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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107611 - Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".
  8. ^ Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson Å, Kampf C, Sjöstedt E (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.
  9. ^ "Tissue expression of CUBN - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.
  10. ^ Gremel G, Djureinovic D, Niinivirta M, Laird A, Ljungqvist O, Johannesson H, Bergman J, Edqvist PH, Navani S (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.
  11. ^ Uhlen M, Zhang C, Lee S, Sjöstedt E, Fagerberg L, Bidkhori G, Benfeitas R, Arif M, Liu Z (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.
  12. ^ "Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.

Further reading

External links