|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
|
|
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
|
gptkb:ENSP00000361322
10165
|
|
gptkbp:family
|
gptkb:mitochondrial_carrier_family
|
|
gptkbp:function
|
aspartate/glutamate carrier in mitochondria
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9BWD1
|
|
gptkbp:is_reviewed_in_UniProt
|
true
|
|
gptkbp:KEGGID
|
hsa:10165
|
|
gptkbp:length
|
675 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7q21.3
7q21.3
|
|
gptkbp:molecularWeight
|
74 kDa
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
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
|
complete
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
gptkb:small_intestine
gptkb:testis
brain
heart
liver
colon
pancreas
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
gptkb:Q9BWD1
|
|
gptkbp:bfsParent
|
gptkb:ACY2
|
|
gptkbp:bfsLayer
|
7
|