full name
cubilin

synonyms
gp280, IFCR, MGA1, CUBN, ENSG00000107611

HGNC
HGNC:2548

Entrez Gene
Gene:8029

ENSEMBL
ENSG00000107611

location
chr: 10
start: 16865965
stop: 17171816
strand: -

OMIM
OMIM:602997: CUBN (Autosomal recessive inheritance)
OMIM:261100: Imerslund-Grasbeck syndrome 1
OMIM:618884: [Proteinuria, chronic benign]

transcripts
NM_001081.3

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Defective AMN causes hereditary megaloblastic anemia 1 [NCBI:1268961] [REACTOME:R-HSA-3359462] [PUBMED:13852753]
Defective CUBN causes hereditary megaloblastic anemia 1 [NCBI:1268962] [REACTOME:R-HSA-3359463] [PUBMED:13828999]
Defects in cobalamin (B12) metabolism [NCBI:1268960] [REACTOME:R-HSA-3296469] [PUBMED:21312325] [PUBMED:16846473] [PUBMED:9587028] [PUBMED:21114891] [PUBMED:22547309]
Defects in vitamin and cofactor metabolism [NCBI:1268959] [REACTOME:R-HSA-3296482]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
HDL-mediated lipid transport [NCBI:1270007] [REACTOME:R-HSA-194223] [PUBMED:16968945] [PUBMED:14592845] [PUBMED:18460328] [PUBMED:10488948] [PUBMED:15738977]
Lipid digestion, mobilization, and transport [NCBI:1270002] [REACTOME:R-HSA-73923]
Lipoprotein metabolism [NCBI:1270005] [REACTOME:R-HSA-174824]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:22516726] [PUBMED:15951480] [PUBMED:16011460]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Vitamin D (calciferol) metabolism [NCBI:1270052] [REACTOME:R-HSA-196791] [PUBMED:15951480]
Vitamin digestion and absorption [NCBI:199556] [KEGG:hsa04977] [PUBMED:19173758] [PUBMED:16206251] [PUBMED:14977409] [PUBMED:14642860] [PUBMED:16688755] [PUBMED:19056639] [PUBMED:18841274] [PUBMED:20185591] [PUBMED:16462170] [PUBMED:20724488] [PUBMED:11340090] [PUBMED:11984580] [PUBMED:20166147]