|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:OCTN2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
primary systemic carnitine deficiency
|
|
gptkbp:biologicalProcess
|
carnitine transmembrane transporter activity
carnitine transport
|
|
gptkbp:cellularComponent
|
integral component of plasma membrane
|
|
gptkbp:disulfideBond
|
yes
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSP00000361021
6584
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
heart
|
|
gptkbp:function
|
carnitine transporter
|
|
gptkbp:gene
|
gptkb:SLC22A5
|
|
gptkbp:glycosylation
|
yes
|
|
gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
10976
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9UBV4
|
|
gptkbp:InterPro
|
IPR002293
|
|
gptkbp:KEGGID
|
hsa:6584
|
|
gptkbp:last_sequence_update
|
2001-06-01
|
|
gptkbp:lastAnnotationUpdate
|
2021-02-10
|
|
gptkbp:length
|
557 amino acids
|
|
gptkbp:locatedOnChromosome
|
5q31
chromosome 5: 131,603,000-131,629,000 (GRCh38)
|
|
gptkbp:molecularWeight
|
63,000 Da
|
|
gptkbp:mutationAssociatedWith
|
systemic primary carnitine deficiency
|
|
gptkbp:OMIM
|
603377
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Q9JLC8
Q9Z2D8
|
|
gptkbp:PDB
|
none
|
|
gptkbp:phosphorylates
|
yes
|
|
gptkbp:protein_existence
|
evidence at protein level
|
|
gptkbp:protein_name
|
gptkb:Solute_carrier_family_22_member_5
|
|
gptkbp:proteinFamily
|
PF01309
|
|
gptkbp:Reactome
|
R-HSA-425393
|
|
gptkbp:RefSeq
|
NP_003048.2
|
|
gptkbp:reviewedBy
|
yes
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:sequenceVersion
|
version 2
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
|
gptkbp:transmembraneDomains
|
12
yes
|
|
gptkbp:transporter_activity
|
organic cation/carnitine transporter activity
|
|
gptkbp:UniGene
|
Hs.6547
|
|
gptkbp:UniProtID
|
gptkb:Q9UBV4
|
|
gptkbp:bfsParent
|
gptkb:WNT16
|
|
gptkbp:bfsLayer
|
7
|