Cubilin

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

CUBN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCUBN, IFCR, MGA1, gp280, cubilin, IGS, IGS1
External IDsOMIM: 602997 MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10p13Start16,823,966 bp[1]
End17,129,811 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 2: 13.28 – 13.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000107611 - Ensembl, May 2017
  2. 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. "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".
  8. Uhlén, Mathias; Fagerberg, Linn; Hallström, Björn M.; Lindskog, Cecilia; Oksvold, Per; Mardinoglu, Adil; Sivertsson, Åsa; Kampf, Caroline; Sjöstedt, 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.
  9. "Tissue expression of CUBN - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.
  10. 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.
  11. 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.
  12. "Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06.

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.