CUBN
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
cubilin | MIM:602997 | Ensembl:ENSG00000107611 | HGNC:HGNC:2548 | PA27044 | 10p13 |
GO terms in CUBN
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | TAS | GO:0005215 | transporter activity |
MF | IEA | GO:0005509 | calcium ion binding |
MF | IPI | GO:0005515 | protein binding |
MF | ISS | GO:0008144 | drug binding |
MF | IEA | GO:0031419 | cobalamin binding |
MF | TAS | GO:0038023 | signaling receptor activity |
MF | IDA | GO:0042803 | protein homodimerization activity |
BP | NAS | GO:0001894 | tissue homeostasis |
BP | NAS | GO:0006898 | receptor-mediated endocytosis |
BP | IEA | GO:0007165 | signal transduction |
BP | IEA | GO:0008203 | cholesterol metabolic process |
BP | TAS | GO:0009235 | cobalamin metabolic process |
BP | TAS | GO:0015889 | cobalamin transport |
BP | TAS | GO:0034384 | high-density lipoprotein particle clearance |
BP | TAS | GO:0042359 | vitamin D metabolic process |
BP | IEA | GO:0042953 | lipoprotein transport |
CC | IEA | GO:0005765 | lysosomal membrane |
CC | IEA | GO:0005783 | endoplasmic reticulum |
CC | IEA | GO:0005794 | Golgi apparatus |
CC | TAS | GO:0005829 | cytosol |
CC | TAS | GO:0005886 | plasma membrane |
CC | IEA | GO:0005905 | clathrin-coated pit |
CC | TAS | GO:0010008 | endosome membrane |
CC | TAS | GO:0016020 | membrane |
CC | IDA | GO:0016324 | apical plasma membrane |
CC | ISS | GO:0016324 | apical plasma membrane |
CC | IDA | GO:0030139 | endocytic vesicle |
CC | NAS | GO:0031232 | extrinsic component of external side of plasma membrane |
CC | ISS | GO:0031526 | brush border membrane |
CC | NAS | GO:0031526 | brush border membrane |
CC | TAS | GO:0043202 | lysosomal lumen |
CC | HDA | GO:0070062 | extracellular exosome |
CC | IDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: CUBN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CUBN
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
reactome | R-HSA-196741 | Cobalamin (Cbl, vitamin B12) transport and metabolism |
reactome | R-HSA-196791 | Vitamin D (calciferol) metabolism |
reactome | R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
reactome | R-HSA-3296469 | Defects in cobalamin (B12) metabolism |
reactome | R-HSA-3296482 | Defects in vitamin and cofactor metabolism |
reactome | R-HSA-3359462 | Defective AMN causes hereditary megaloblastic anemia 1 |
reactome | R-HSA-3359463 | Defective CUBN causes hereditary megaloblastic anemia 1 |
reactome | R-HSA-382551 | Transport of small molecules |
reactome | R-HSA-556833 | Metabolism of lipids |
reactome | R-HSA-5668914 | Diseases of metabolism |
reactome | R-HSA-8957322 | Metabolism of steroids |
reactome | R-HSA-8964011 | HDL clearance |
reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
wikipathways | WP1533 | Vitamin B12 Metabolism |
kegg | hsa04977 | Vitamin digestion and absorption - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD511 | CHEMBL399379 | 2 |
iGMDRD123 | Isoevodiamine | 5 |
iGMDRD901 | ELCPK | 6 |
iGMDRD698 | Neratinib | 3 |
iGMDRD57 | Chloropentafluorobenzene | 2 |
iGMDRD341 | Triacsin c | 3 |
iGMDRD424 | Tamatinib | 3 |
iGMDRD150 | RITA | 2 |
iGMDRD410 | Ko-143 | 3 |
iGMDRD84 | Lovastatin acid | 1 |
iGMDRD42 | Vorinostat | 5 |
iGMDRD505 | Pevonedistat | 2 |
iGMDRD329 | Merck60 | 10 |
iGMDRD872 | BRD7137 | 8 |
iGMDRD871 | BRD6368 | 2 |
iGMDRD414 | MST-312 | 2 |
iGMDRD67 | PENFLURIDOL | 2 |
iGMDRD77 | Itraconazole | 1 |
iGMDRD481 | Dactolisib | 4 |
iGMDRD434 | BMS-536924 | 4 |
iGMDRD105 | Triptolide | 2 |
iGMDRD202 | Curcumin | 9 |
iGMDRD359 | OSW-1 | 5 |
iGMDRD280 | CYTOCHALASIN B | 8 |
iGMDRD679 | Bistramide A | 2 |
iGMDRD394 | BX-795 | 3 |
iGMDRD61 | Kinetin riboside | 3 |
iGMDRD144 | NSC95397 | 2 |
iGMDRD1008 | SR-II-138A | 3 |
iGMDRD433 | Lexibulin | 4 |
iGMDRD151 | CHM-1 | 1 |
iGMDRD562 | Navitoclax | 3 |
iGMDRD506 | Fedratinib | 3 |
iGMDRD577 | BIX01294 | 2 |
iGMDRD399 | Selumetinib | 1 |
iGMDRD188 | Piperlongumine | 3 |
iGMDRD100 | Zebularine | 2 |
iGMDRD187 | BRD9876 | 3 |
iGMDRD318 | PAC-1 | 2 |
iGMDRD255 | SB225002 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CUBN