|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:OCTN2
|
|
gptkbp:associatedWith
|
primary systemic carnitine deficiency
|
|
gptkbp:biologicalProcess
|
transmembrane transporter activity
organic cation transport
carnitine transmembrane transporter activity
carnitine transport
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSP00000361322
6584
|
|
gptkbp:expressedIn
|
ubiquitous
|
|
gptkbp:function
|
carnitine transporter
|
|
gptkbp:gene
|
gptkb:SLC22A5
|
|
gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
10976
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9UKN1
|
|
gptkbp:KEGGID
|
hsa:6584
|
|
gptkbp:length
|
557 amino acids
|
|
gptkbp:locatedOnChromosome
|
5q31
chromosome 5: 131,889,234-131,911,234 (GRCh38)
|
|
gptkbp:molecularWeight
|
63 kDa
|
|
gptkbp:mutationAssociatedWith
|
carnitine deficiency
|
|
gptkbp:OMIM
|
603377
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Slc22a5
rat Slc22a5
|
|
gptkbp:pathway
|
fatty acid beta-oxidation
|
|
gptkbp:PDB
|
7DSY
|
|
gptkbp:protein_name
|
gptkb:Solute_carrier_family_22_member_5
|
|
gptkbp:publicTransit
|
gptkb:solute_carrier_family_22
|
|
gptkbp:RefSeq
|
NP_003048.2
|
|
gptkbp:reviewedBy
|
yes
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
|
gptkbp:tissue_specificity
|
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
heart
fibroblast
|
|
gptkbp:transmembraneDomains
|
12
yes
|
|
gptkbp:UniGene
|
Hs.65462
|
|
gptkbp:UniProtID
|
gptkb:Q9UKN1
|
|
gptkbp:bfsParent
|
gptkb:PIG3
gptkb:ANG-C
gptkb:ANG-C1
|
|
gptkbp:bfsLayer
|
7
|