|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
gptkb:Solute_carrier_family_25_member_13
|
|
gptkbp:associatedWith
|
gptkb:Citrin_deficiency
Adult-onset type II citrullinemia
Neonatal intrahepatic cholestasis caused by citrin deficiency
|
|
gptkbp:Entrez_Gene_ID
|
ENSP00000369497
|
|
gptkbp:function
|
gptkb:aspartate/glutamate_carrier
involved in urea cycle
involved in gluconeogenesis
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:gene_location_(genomic_coordinates)
|
chr7: 127,356,000-127,410,000 (GRCh38)
|
|
gptkbp:gene_ontology_(biological_process)
|
amino acid transport
|
|
gptkbp:gene_ontology_(cellular_component)
|
mitochondrial inner membrane
|
|
gptkbp:gene_ontology_(molecular_function)
|
aspartate transmembrane transporter activity
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9UIJ7
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
|
|
gptkbp:molecularWeight
|
74,000
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Slc25a13
|
|
gptkbp:PDB
|
7C3K
7C3L
7C3M
|
|
gptkbp:postTranslationalModification
|
phosphorylation
|
|
gptkbp:protein_existence
|
evidence at protein level
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:RefSeq
|
NP_066267.2
|
|
gptkbp:reviewed_in_UniProt
|
yes
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
heart
liver
pancreas
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
gptkb:Q9UIJ7
|
|
gptkbp:bfsParent
|
gptkb:Mitochondrial_trifunctional_protein
|
|
gptkbp:bfsLayer
|
7
|