|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
gptkb:Solute_carrier_family_25_member_13
|
|
gptkbp:associatedWith
|
gptkb:Adult-onset_type_II_citrullinemia_(CTLN2)
gptkb:Citrin_deficiency
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)
|
|
gptkbp:biologicalProcess
|
gptkb:urea_cycle
gluconeogenesis
amino acid transport
aspartate transmembrane transporter activity
glutamate transmembrane transporter activity
|
|
gptkbp:cellularComponent
|
mitochondrion
|
|
gptkbp:Entrez_Gene_ID
|
10165
ENSP00000361624
GCID:GC07P092425
|
|
gptkbp:expressedIn
|
high in liver
low in brain
low in skeletal muscle
|
|
gptkbp:function
|
gptkb:aspartate/glutamate_carrier
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9BY84
|
|
gptkbp:KEGGID
|
hsa:10165
|
|
gptkbp:length
|
675 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q21.3
|
|
gptkbp:molecularWeight
|
74 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes citrin deficiency
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Slc25a13
rat Slc25a13
|
|
gptkbp:pathway
|
gptkb:malate-aspartate_shuttle
urea cycle and metabolism of amino groups
|
|
gptkbp:PDB
|
gptkb:6GCK
6GCI
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:proteinFamily
|
PF00153
|
|
gptkbp:RefSeq
|
NP_036354.2
|
|
gptkbp:reviewedBy
|
yes
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
heart
liver
pancreas
|
|
gptkbp:transmembraneDomains
|
present
|
|
gptkbp:UniProtID
|
gptkb:Q9BY84
|
|
gptkbp:bfsParent
|
gptkb:DUSP13
|
|
gptkbp:bfsLayer
|
7
|