Entity Details

Primary name ADT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP12235
EntryNameADT1_HUMAN
FullNameADP/ATP translocase 1
TaxID9606
Evidenceevidence at protein level
Length298
SequenceStatuscomplete
DateCreated1989-10-01
DateModified2021-06-02

Ontological Relatives

GenesSLC25A4

GO terms

Show/Hide Table
GOName
GO:0000002 mitochondrial genome maintenance
GO:0005471 ATP:ADP antiporter activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005757 mitochondrial permeability transition pore complex
GO:0005887 integral component of plasma membrane
GO:0006091 generation of precursor metabolites and energy
GO:0008637 apoptotic mitochondrial changes
GO:0015078 proton transmembrane transporter activity
GO:0015207 adenine transmembrane transporter activity
GO:0015866 ADP transport
GO:0016020 membrane
GO:0016032 viral process
GO:0017077 oxidative phosphorylation uncoupler activity
GO:0032592 integral component of mitochondrial membrane
GO:0046902 regulation of mitochondrial membrane permeability
GO:0060546 negative regulation of necroptotic process
GO:0140021 mitochondrial ADP transmembrane transport
GO:1901526 positive regulation of mitophagy
GO:1990544 mitochondrial ATP transmembrane transport
GO:1990845 adaptive thermogenesis

Subcellular Location

Show/Hide Table
Subcellular Location
Membrane
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR002067 Mitochondrial carrier proteinFamilyFamily
IPR002113 ADP/ATP carrier protein, eukaryotic typeFamilyFamily
IPR018108 Mitochondrial substrate/solute carrierRepeatRepeat
IPR023395 Mitochondrial carrier domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617184 OMIMMitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A)An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. The disease is caused by variants affecting the gene represented in this entry.
609283 OMIMProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. The disease is caused by variants affecting the gene represented in this entry.
615418 OMIMMitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B)An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00171 ATPDrugbanksmall molecule
DB00720 Clodronic acidDrugbanksmall molecule
DB01077 Etidronic acidDrugbanksmall molecule
DB01736 [3-(Dodecanoylamino)Propyl](Hydroxy)DimethylammoniumDrugbanksmall molecule
DB02426 CarboxyatractylosideDrugbanksmall molecule
DB03429 Tetrastearoyl cardiolipinDrugbanksmall molecule
DB04178 Di-Stearoyl-3-Sn-PhosphatidylcholineDrugbanksmall molecule