|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ANT1
gptkb:ANTM
ADP/ATP translocase 1
|
|
gptkbp:associatedWith
|
gptkb:progressive_external_ophthalmoplegia
gptkb:mitochondrial_myopathy
cardiomyopathy
|
|
gptkbp:component
|
mitochondrial inner membrane
|
|
gptkbp:discoveredBy
|
Houldsworth J, Attardi G, 1988
|
|
gptkbp:encodes
|
ADP/ATP translocase 1
|
|
gptkbp:Entrez_Gene_ID
|
291
ENSG00000119606
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
heart
|
|
gptkbp:function
|
ADP transmembrane transporter activity
mitochondrial ADP/ATP translocator activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
ATP transport
|
|
gptkbp:HGNC_ID
|
HGNC:10990
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC25A4
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
|
|
gptkbp:mutationAssociatedWith
|
mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
|
|
gptkbp:OMIM
|
103220
|
|
gptkbp:orthologInMouse
|
Slc25a4
|
|
gptkbp:proteinFamily
|
gptkb:mitochondrial_carrier_family
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:UniProtID
|
P12235
|
|
gptkbp:bfsParent
|
gptkb:solute_carrier_family
|
|
gptkbp:bfsLayer
|
6
|