Q9UJX6

URI: https://gptkb.org/entity/Q9UJX6
GPTKB entity
Statements (40)
Predicate Object
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:malate-aspartate_shuttle
calcium ion binding
transporter activity
aspartate transport
gptkbp:Entrez_Gene_ID gptkb:ENSP00000361322
gptkbp:expressedIn gptkb:kidney
heart
liver
pancreas
gptkbp:gene gptkb:SLC25A13
gptkbp:hasIsoform 2
gptkbp:HGNC_ID HGNC:10987
https://www.w3.org/2000/01/rdf-schema#label Q9UJX6
gptkbp:InterPro IPR018108
gptkbp:length 675
gptkbp:locatedOnChromosome 7q21.3
chromosome 7: 92,180,000-92,260,000 (GRCh38)
gptkbp:mass_(Da) 74,000
gptkbp:OMIM 603859
gptkbp:organism gptkb:Homo_sapiens
gptkbp:PDB gptkb:6GCK
gptkb:6GCM
6GCI
gptkbp:protein_name gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
gptkbp:proteinFamily PF00153
gptkbp:RefSeq NP_065170.2
gptkbp:reviewedBy yes
gptkbp:sequenceStatus complete
gptkbp:subcellularLocation mitochondrion inner membrane
gptkbp:transmembraneDomains present
gptkbp:UniGene Hs.518869
gptkbp:UniProtID gptkb:Q9UJX6
gptkbp:bfsParent gptkb:APC5
gptkbp:bfsLayer 7