Cubilin

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CUBN
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CUBN, IFCR, MGA1, gp280, cubilin
External IDs MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN
Gene location (Human)
Chromosome 10 (human)
Chr. Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for CUBN
Genomic location for CUBN
Band 10p13 Start 16,823,964 bp[1]
End 17,129,831 bp[1]
RNA expression pattern
PBB GE CUBN 206775 at fs.png

PBB GE CUBN gnf1h06087 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081

NM_001081084

RefSeq (protein)

NP_001072

NP_001074553

Location (UCSC) Chr 10: 16.82 – 17.13 Mb Chr 10: 13.28 – 13.49 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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. It can be found in the proximal tubule forming part complexes with megalin; the function of these complexes is reabsorptive and can be inhibited by sodium maleate.[10]

Clinical significance[edit]

Cubilin is a potential diagnostic and prognostic cancer biomarker for kidney cancer[11]. Based on patient survival data, high levels of cubilin in tumor cells is a favourable prognostic biomarker in renal cell carcinoma[12][13].

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 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, 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. 
  9. ^ "Tissue expression of CUBN - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06. 
  10. ^ Blazquez-Medela, AM; Garcia-Sanchez, O; Blanco-Gozalo, V; Quiros, Y; Montero, MJ; Martinez-Salgado, C; Lopez-Novoa, JM; Lopez-Hernandez, FJ (2014). "Hypertension and hyperglycemia synergize to cause incipient renal tubular alterations resulting in increased NGAL urinary excretion in rats". PLoS ONE. 9 (8): e105988. doi:10.1371/journal.pone.0105988. PMID 25148248. 
  11. ^ 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). doi:10.1186/s12885-016-3030-6. ISSN 1471-2407. 
  12. ^ 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. 
  13. ^ "Expression of CUBN in renal cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-06. 

Further reading[edit]