Cubilin

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Cubilin (intrinsic factor-cobalamin receptor)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CUBN ; IFCR; MGA1; gp280
External IDs OMIM602997 MGI1931256 HomoloGene37434 GeneCards: CUBN Gene
RNA expression pattern
PBB GE CUBN 206775 at tn.png
PBB GE CUBN gnf1h06087 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
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:
16.87 – 17.17 Mb
Chr 2:
13.28 – 13.49 Mb
PubMed search [1] [2]

Cubilin is a protein that in humans is encoded by the CUBN gene.[1][2][3]

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. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.[3] A complex of amnionless and cubilin forms the cubam receptor.

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)". 

Further reading[edit]