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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)
|
|
gptkbp:biologicalProcess
|
amino acid transport
aspartate transmembrane transporter activity
|
|
gptkbp:cellularComponent
|
mitochondrial inner membrane
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:Entrez_Gene_ID
|
10165
ENSP00000369497
|
|
gptkbp:enzymeCommissionNumber
|
--
|
|
gptkbp:expressedIn
|
gptkb:kidney
heart
liver
pancreas
|
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gptkbp:family
|
gptkb:mitochondrial_carrier_family
|
|
gptkbp:function
|
aspartate/glutamate carrier in mitochondria
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
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gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9BQT8
|
|
gptkbp:InterPro
|
IPR023395
|
|
gptkbp:KEGGID
|
hsa:10165
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
|
|
gptkbp:molecularWeight
|
74,000
|
|
gptkbp:mutationAssociatedWith
|
causes citrin deficiency
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Slc25a13
rat Slc25a13
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:proteinFamily
|
PF00153
|
|
gptkbp:Reactome
|
R-HSA-200425
|
|
gptkbp:RefSeq
|
NP_004857.2
|
|
gptkbp:sequenceStatus
|
reviewed
|
|
gptkbp:structure
|
multi-pass membrane protein
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniGene
|
Hs.1555
|
|
gptkbp:UniProtID
|
gptkb:Q9BQT8
|
|
gptkbp:bfsParent
|
gptkb:SLC25A12
gptkb:SLC25A21
|
|
gptkbp:bfsLayer
|
8
|