|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:8D6_antigen
gptkb:Transcobalamin_receptor
CD320 antigen
|
|
gptkbp:associatedWith
|
vitamin B12 metabolism
cobalamin deficiency
|
|
gptkbp:biologicalProcess
|
receptor activity
cell surface receptor signaling pathway
vitamin transport
|
|
gptkbp:discoveredBy
|
gene sequencing
|
|
gptkbp:disulfideBond
|
yes
|
|
gptkbp:encodes
|
CD320 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000105281
113245
|
|
gptkbp:expressedIn
|
gptkb:human
gptkb:kidney
gptkb:placenta
brain
liver
immune cells
|
|
gptkbp:function
|
mediates cellular uptake of transcobalamin-bound cobalamin (vitamin B12)
|
|
gptkbp:gene
|
gptkb:CD320
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:glycosylation
|
yes
|
|
gptkbp:hasCellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:hasClinicalVariant
|
c.262_264del (pathogenic variant)
|
|
gptkbp:hasProteinLength
|
282 amino acids
|
|
gptkbp:hasRefSeqID
|
NM_014961
|
|
gptkbp:hasTissueSpecificity
|
low in brain
high in placenta
moderate in liver and kidney
|
|
gptkbp:HGNC_ID
|
HGNC:21098
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CD320 molecule
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
|
|
gptkbp:OMIM
|
609564
|
|
gptkbp:orthologInMouse
|
Cd320
|
|
gptkbp:pathway
|
vitamin B12 uptake pathway
|
|
gptkbp:PDB
|
6K5Y
|
|
gptkbp:proteinFamily
|
gptkb:CD_molecules
transcobalamin receptor family
|
|
gptkbp:signalPeptide
|
yes
|
|
gptkbp:significance
|
mutations can cause cobalamin deficiency
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
|
|
gptkbp:transmembraneDomains
|
yes
|
|
gptkbp:UniProtID
|
gptkb:Q9NPF0
|
|
gptkbp:bfsParent
|
gptkb:CD320
|
|
gptkbp:bfsLayer
|
8
|