Homo sapiens Gene: CUBN
Summary
InnateDB Gene IDBG-58020.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CUBN
Gene Name cubilin (intrinsic factor-cobalamin receptor)
Synonyms gp280; IFCR; MGA1;
Species Homo sapiens
Ensembl Gene ENSG00000107611
Encoded Proteins
cubilin (intrinsic factor-cobalamin receptor)
cubilin (intrinsic factor-cobalamin receptor)
cubilin (intrinsic factor-cobalamin receptor)
cubilin (intrinsic factor-cobalamin receptor)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:16823964-17129831
Strand Reverse strand
Band p13
Transcripts
ENST00000377833 ENSP00000367064
ENST00000377823 ENSP00000367054
ENST00000438254 ENSP00000391830
ENST00000433666 ENSP00000415970
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0005215 transporter activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0031419 cobalamin binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0001894 tissue homeostasis
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006898 receptor-mediated endocytosis
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0009235 cobalamin metabolic process
GO:0015889 cobalamin transport
GO:0042157 lipoprotein metabolic process
GO:0042359 vitamin D metabolic process
GO:0042953 lipoprotein transport
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0005905 coated pit
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0030139 endocytic vesicle
GO:0031232 extrinsic component of external side of plasma membrane
GO:0031526 brush border membrane
GO:0043202 lysosomal lumen
GO:0045177 apical part of cell
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of steroid hormones and vitamin D pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
HDL-mediated lipid transport pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Lipoprotein metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Vitamin D (calciferol) metabolism pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Lipid digestion, mobilization, and transport pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.166206 Hs.606633
RefSeq NM_001081
HUGO
OMIM
CCDS CCDS7113
HPRD 04296
IMGT
EMBL
GenPept
RNA Seq Atlas