|
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:discoveredIn
|
1999
|
|
gptkbp:EC_number
|
--
|
|
gptkbp:ensemblId
|
ENSG00000104228
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|
gptkbp:Entrez_Gene_ID
|
10165
|
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gptkbp:family
|
Mitochondrial carrier family
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gptkbp:function
|
Transports aspartate and glutamate across the mitochondrial membrane
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|
gptkbp:gene
|
gptkb:SLC25A13
|
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gptkbp:GO_term
|
gptkb:urea_cycle
mitochondrial inner membrane
mitochondrial transport
calcium ion binding
aspartate transmembrane transporter activity
liver development
glutamate transmembrane transporter activity
amino acid metabolic process
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|
gptkbp:hasIsoform
|
2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9UBS8
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
|
|
gptkbp:molecularWeight
|
74,000 Da
|
|
gptkbp:mutationAssociatedWith
|
Mutations cause citrin deficiency
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:organismTaxonId
|
9606
|
|
gptkbp:orthologIn
|
mouse Slc25a13
rat Slc25a13
|
|
gptkbp:pathway
|
gptkb:Urea_cycle
Amino acid metabolism
|
|
gptkbp:PDB
|
6GCI
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:RefSeq
|
NP_036354.2
|
|
gptkbp:sequenceStatus
|
Reviewed
|
|
gptkbp:sequenceVersion
|
2
|
|
gptkbp:subcellularLocation
|
gptkb:Mitochondrion_inner_membrane
|
|
gptkbp:tissue_specificity
|
gptkb:Heart
Liver
Kidney
Pancreas
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
gptkb:Q9UBS8
|
|
gptkbp:bfsParent
|
gptkb:UBXD2
|
|
gptkbp:bfsLayer
|
8
|