Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0015866 | ADP transport |
| Biological Process | GO:1990845 | adaptive thermogenesis |
| Biological Process | GO:0008637 | apoptotic mitochondrial changes |
| Biological Process | GO:0006091 | generation of precursor metabolites and energy |
| Biological Process | GO:0140021 | mitochondrial ADP transmembrane transport |
| Biological Process | GO:1990544 | mitochondrial ATP transmembrane transport |
| Biological Process | GO:0000002 | mitochondrial genome maintenance |
| Biological Process | GO:1901029 | negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway |
| Biological Process | GO:0060546 | negative regulation of necroptotic process |
| Biological Process | GO:1901526 | positive regulation of mitophagy |
| Biological Process | GO:0046902 | regulation of mitochondrial membrane permeability |
| Molecular Function | GO:0005471 | ATP:ADP antiporter activity |
| Molecular Function | GO:0015207 | adenine transmembrane transporter activity |
| Molecular Function | GO:0017077 | oxidative phosphorylation uncoupler activity |
| Molecular Function | GO:0015078 | proton transmembrane transporter activity |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005743 | mitochondrial inner membrane |
| Cellular Component | GO:0031966 | mitochondrial membrane |
| Cellular Component | GO:0005757 | mitochondrial permeability transition pore complex |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1268020 | Mitochondrial protein import | Leaf | R-HSA-9609507 | Protein localization |
| R-HSA-180897 | Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization | Leaf | R-HSA-1643685 | Disease |
| R-HSA-83936 | Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane | Leaf | R-HSA-382551 | Transport of small molecules |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Membrane | ECO:0000269 | PubMed:27641616 |
| Mitochondrion inner membrane | ECO:0000269 | PubMed:21586654 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000017 | Nocturia |
| HP:0000338 | Hypomimic face |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000544 | External ophthalmoplegia |
| HP:0000545 | Myopia |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000602 | Ophthalmoplegia |
| HP:0000639 | Nystagmus |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0000836 | Hyperthyroidism |
| HP:0000853 | Goiter |
| HP:0000939 | Osteoporosis |
| HP:0000969 | Edema |
| HP:0001131 | Corneal dystrophy |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001254 | Lethargy |
| HP:0001256 | Intellectual disability, mild |
| HP:0001260 | Dysarthria |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001337 | Tremor |
| HP:0001349 | Facial diplegia |
| HP:0001392 | Abnormality of the liver |
| HP:0001508 | Failure to thrive |
| HP:0001513 | Obesity |
| HP:0001522 | Death in infancy |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001771 | Achilles tendon contracture |
| HP:0001946 | Ketosis |
| HP:0001952 | Glucose intolerance |
| HP:0001962 | Palpitations |
| HP:0001992 | Organic aciduria |
| HP:0002015 | Dysphagia |
| HP:0002017 | Nausea and vomiting |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002063 | Rigidity |
| HP:0002066 | Gait ataxia |
| HP:0002067 | Bradykinesia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002076 | Migraine |
| HP:0002093 | Respiratory insufficiency |
| HP:0002094 | Dyspnea |
| HP:0002151 | Increased serum lactate |
| HP:0002315 | Headache |
| HP:0002322 | Resting tremor |
| HP:0002359 | Frequent falls |
| HP:0002375 | Hypokinesia |
| HP:0002396 | Cogwheel rigidity |
| HP:0002490 | Increased CSF lactate |
| HP:0002540 | Inability to walk |
| HP:0002578 | Gastroparesis |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002875 | Exertional dyspnea |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003128 | Lactic acidosis |
| HP:0003198 | Myopathy |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003324 | Generalized muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003348 | Hyperalaninemia |
| HP:0003388 | Easy fatigability |
| HP:0003394 | Muscle spasm |
| HP:0003438 | Absent Achilles reflex |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003546 | Exercise intolerance |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003577 | Congenital onset |
| HP:0003581 | Adult onset |
| HP:0003676 | Progressive |
| HP:0003677 | Slowly progressive |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0003690 | Limb muscle weakness |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0003737 | Mitochondrial myopathy |
| HP:0003811 | Neonatal death |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004900 | Severe lactic acidosis |
| HP:0005110 | Atrial fibrillation |
| HP:0007042 | Focal white matter lesions |
| HP:0007302 | Bipolar affective disorder |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0009830 | Peripheral neuropathy |
| HP:0010628 | Facial palsy |
| HP:0011462 | Young adult onset |
| HP:0011675 | Arrhythmia |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0012378 | Fatigue |
| HP:0012664 | Reduced left ventricular ejection fraction |
| HP:0030148 | Heart murmur |
| HP:0100543 | Cognitive impairment |
| HP:0100704 | Cerebral visual impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Low | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | High | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | Low | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Low | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sengers syndrome | MONDO:0008922 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:212350 | Orphanet:1369 |
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | MONDO:0012238 | H49 | chapter7, Diseases of the eye and adnexa | OMIM:609283 | |
| mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive | MONDO:0014175 | G71 | chapter6, Diseases of the nervous system | OMIM:615418 | |
| mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant | MONDO:0014959 | G71 | chapter6, Diseases of the nervous system | OMIM:617184 |