|
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:Entrez_Gene_ID
|
10165
ENSP00000369497
|
|
gptkbp:expressedIn
|
high in heart
high in kidney
high in liver
high in pancreas
|
|
gptkbp:family
|
gptkb:mitochondrial_carrier_family
|
|
gptkbp:function
|
gptkb:aspartate-glutamate_carrier
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:GO_term
|
mitochondrial transport
calcium ion binding
glutamate transport
aspartate transport
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9Y2X7
|
|
gptkbp:length
|
675 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7q21.3
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:PDB
|
gptkb:6GCK
gptkb:6GCM
gptkb:6GCO
6GCI
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:RefSeq
|
NP_004857.2
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
heart
liver
pancreas
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:transporter_activity
|
gptkb:aspartate/glutamate_antiporter
|
|
gptkbp:UniProtID
|
gptkb:Q9Y2X7
|
|
gptkbp:bfsParent
|
gptkb:ZNF180
gptkb:GIT1
|
|
gptkbp:bfsLayer
|
8
|