|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
gptkb:Solute_carrier_family_25_member_13
|
|
gptkbp:associatedWith
|
gptkb:Citrin_deficiency
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)
Adult-onset citrullinemia type II (CTLN2)
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|
gptkbp:biologicalProcess
|
gptkb:malate-aspartate_shuttle
transmembrane transporter activity
calcium ion binding
aspartate transport
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|
gptkbp:cellularComponent
|
mitochondrial inner membrane
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSP00000361322
10165
|
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gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:HGNC_ID
|
HGNC:10987
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9P2K1
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
|
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gptkbp:mutationAssociatedWith
|
causes citrin deficiency
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:pathway
|
gptkb:urea_cycle
amino acid metabolism
|
|
gptkbp:PDB
|
gptkb:6GCK
6GCI
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:proteinFamily
|
mitochondrial carrier family (MCF)
|
|
gptkbp:RefSeq
|
NP_004855.2
|
|
gptkbp:subcellularLocation
|
mitochondrion
|
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gptkbp:tissue_specificity
|
gptkb:kidney
heart
liver
pancreas
|
|
gptkbp:UniProtID
|
gptkb:Q9P2K1
|
|
gptkbp:bfsParent
|
gptkb:RAPGEF28
gptkb:RGL3
|
|
gptkbp:bfsLayer
|
7
|