Cubilin

CUBN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases CUBN, IFCR, MGA1, gp280, cubilin
External IDs MGI: 1931256 HomoloGene: 37434 GeneCards: CUBN
RNA expression pattern


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_001072.2

NP_001074553.1

Location (UCSC) Chr 10: 16.82 – 17.13 Mb Chr 2: 13.28 – 13.49 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Cubilin is a protein that in humans is encoded by the CUBN gene.[3][4][5]

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. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.[5] A complex of amnionless and cubilin forms the cubam receptor.

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: CUBN cubilin (intrinsic factor-cobalamin receptor)".

Further reading


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