Entity Details

Primary name CUBN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60494
EntryNameCUBN_HUMAN
FullNameCubilin
TaxID9606
Evidenceevidence at protein level
Length3623
SequenceStatuscomplete
DateCreated2006-02-07
DateModified2021-06-02

Ontological Relatives

GenesCUBN

GO terms

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GOName
GO:0001894 tissue homeostasis
GO:0005509 calcium ion binding
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0006898 receptor-mediated endocytosis
GO:0008203 cholesterol metabolic process
GO:0009235 cobalamin metabolic process
GO:0009617 response to bacterium
GO:0010008 endosome membrane
GO:0015889 cobalamin transport
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0030139 endocytic vesicle
GO:0031232 extrinsic component of external side of plasma membrane
GO:0031419 cobalamin binding
GO:0031526 brush border membrane
GO:0034384 high-density lipoprotein particle clearance
GO:0038023 signaling receptor activity
GO:0038024 cargo receptor activity
GO:0042359 vitamin D metabolic process
GO:0042803 protein homodimerization activity
GO:0042953 lipoprotein transport
GO:0043202 lysosomal lumen
GO:0043235 receptor complex
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell membrane
Endosome
Lysosome membrane
Membrane

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR024731 EGF domainDomainDomain
IPR028876 CubilinFamilyFamily
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618884 OMIMProteinuria, chronic benign (PROCHOB)An autosomal recessive condition characterized by isolated, non-progressive proteinuria in absence of renal disease and hypertension. Onset of proteinuria is in the first decade of life. The disease is caused by variants affecting the gene represented in this entry.
261100 OMIMImerslund-Grasbeck syndrome 1 (IGS1)A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00115 CyanocobalaminDrugbanksmall molecule
DB00200 HydroxocobalaminDrugbanksmall molecule