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View Ontology Report


The double membrane-bound mitochondria organelles play essential roles in cellular homeostasis. In addition to the major function of ATP production in the oxidative phosphorylation (OXPHOS) pathway, mitochondria are the site of other important metabolic pathway such as fatty acid oxidation, citric acid cycle and urea cycle, heme and iron-sulfur cluster biosynthesis. They also provide for calcium storage and signaling, and have a central role in apoptosis. The mitochondrial distribution/mass var

Pathway Diagram:

Elsevier Inc. Fundc1 Atxn3 Sqstm1 canonical K48, K63 and noncanonical K6, K11 linkages deubiquitinases other autophagy/mitophagy components Map1lc3a Map1lc3b Gabarap Optn translocated cardiolipin Pink1_IMM Parkin substrates ---| mitochondria transport pathway Parkin substrates Park2 ---| mitochondria transport pathway Park2 Parkin substrates ---| mitochondria fusion pathway Map1lc3b ---- translocated cardiolipin casein kinase 2 autophagophore recruitment Pgam5 Bnip3l ---- Map1lc3b Bnip3l ---- Gabarap canonical K48, K63 and noncanonical K6, K11 linkages ---- Optn canonical K48, K63 and noncanonical K6, K11 linkages ---- Sqstm1 Src ---| Fundc1 Src ---> Fundc1 Pgam5 ---> Fundc1 Pgam5 --+> Fundc1 Fundc1 ---- Map1lc3b Bnip3 ---- Map1lc3b Fundc1 ---- Map1lc3a Bnip3l ---- Map1lc3a Map1lc3b ---- Optn Map1lc3b ---- Sqstm1 Map1lc3a ---- Optn Map1lc3a ---- Sqstm1 casein kinase 2 ---| Fundc1 casein kinase 2 ---> Fundc1 Src Pink1 ---> Pink1_IMM Parl ---| Pink1_IMM Parl Parl ---> Pink1_IMM Pink1 Tomm7 Tomm7 --+> Pink1 deubiquitinases ---> Parkin substrates Pink1 ---> Park2 Pink1 --+> Park2 Bnip3 ---- Map1lc3a Atxn3 ---| Park2 Ube2l3 Atxn3 ---- Ube2l3 mitochondria transport pathway mitochondria fusion pathway cardiolipin metabolic pathway Bnip3 hypoxia inducible factor pathway Bnip3l hypoxia inducible factor pathway ---> Bnip3l hypoxia inducible factor pathway ---> Bnip3 Park2 ---> canonical K48, K63 and noncanonical K6, K11 linkages Park2 ---> Parkin substrates

Genes in Pathway:

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mitochondrial autophagy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23065344 RGD:10401098 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
JBrowse link
G Atg7 autophagy related 7 ISO RGD PMID:25840011 RGD:10400888 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
G Atxn3 ataxin 3 ISO RGD PMID:25995186 RGD:10401790 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
JBrowse link
G Becn1 beclin 1 ISO RGD PMID:23065344 RGD:10401098 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:25840011 PMID:23065344 RGD:10400888, RGD:10401098 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:25840011 PMID:23065344 RGD:10400888, RGD:10401098 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO RGD PMID:25840011 RGD:10400888 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO RGD PMID:25840011 RGD:10400888 NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:25840011 RGD:10400888 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Fundc1 FUN14 domain containing 1 ISO RGD PMID:25840011 RGD:10400888 NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284
JBrowse link
G Optn optineurin ISO RGD PMID:25995186 RGD:10401790 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Parl presenilin associated, rhomboid-like ISO RGD PMID:25526784 RGD:10402124 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Pgam5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase ISO RGD PMID:25840011 RGD:10400888 NCBI chr12:46,409,324...46,416,410
Ensembl chr12:46,409,369...46,416,420
JBrowse link
G Pink1 PTEN induced kinase 1 ISO RGD PMID:25840011 PMID:25995186 PMID:23065344 RGD:10400888, RGD:10401790, RGD:10401098 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:23065344 PMID:25840011 PMID:25995186 RGD:10401098, RGD:10400888, RGD:10401790 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Sqstm1 sequestosome 1 ISO RGD PMID:23065344 PMID:25995186 RGD:10401098, RGD:10401790 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO RGD PMID:25840011 RGD:10400888 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO RGD PMID:25526784 RGD:10402124 NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO RGD PMID:25995186 RGD:10401790 NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 ISO RGD PMID:25840011 RGD:10400888 NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966
JBrowse link
G Usp15 ubiquitin specific peptidase 15 ISO RGD PMID:25995186 RGD:10401790 NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
JBrowse link
G Usp30 ubiquitin specific peptidase 30 ISO RGD PMID:25995186 RGD:10401790 NCBI chr12:42,501,345...42,555,311
Ensembl chr12:42,501,348...42,555,616
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO RGD PMID:25995186 RGD:10401790 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
JBrowse link
altered mitochondrial autophagy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pink1 PTEN induced kinase 1 ISO RGD PMID:24735649 RGD:10450527 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:24735649 RGD:10450527 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link

Pathway Gene Annotations

Disease Annotations Associated with Genes in the mitochondrial autophagy pathway
Disease TermsGene Symbols
3-hydroxy-3-methylglutaryl-CoA lyase deficiencyPink1
3-methylcrotonyl-CoA carboxylase 1 deficiencyParl
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromePrkn
achondrogenesis type IAAtxn3
ACTH-secreting pituitary adenomaUsp8
Acute Experimental PancreatitisBecn1
acute necrotizing pancreatitisBecn1
adult T-cell leukemia/lymphomaCsnk2a1 , Csnk2b
Aicardi-Goutieres Syndrome 5Src
Alzheimer's diseaseAmbra1 , Becn1 , Prkn
amyotrophic lateral sclerosisBecn1 , Bnip3l , Optn , Sqstm1
amyotrophic lateral sclerosis type 10Optn
amyotrophic lateral sclerosis type 12Optn
Amyotrophic Lateral Sclerosis, Autosomal RecessiveOptn
Animal Disease ModelsPrkn
anterior ischemic optic neuropathyBecn1
atrophic muscular diseaseAtxn3
autism spectrum disorderCsnk2a1 , Csnk2b , Prkn
autistic disorderFundc1 , Prkn
autosomal dominant intellectual developmental disorderCsnk2b
autosomal recessive polycystic kidney diseaseSrc
autosomal recessive spinocerebellar ataxia 31Atg7
Bardet-Biedl syndromeCsnk2a2
Barrett's esophagusBecn1
bladder neck obstructionOptn
Bloom syndromeUsp8
Brain Hypoxia-IschemiaBecn1
brain infarctionBecn1
Brain InjuriesBecn1
brain ischemiaBecn1 , Src
breast cancerBecn1 , Csnk2a1
breast carcinomaParl
Breast NeoplasmsSrc
Brown-Vialetto-Van Laere syndrome 1Csnk2a1
CardiomegalyBecn1 , Src
Cerebral HemorrhageBecn1 , Bnip3l , Sqstm1
cervical cancerPrkn
chromosome 22q11.2 deletion syndrome, distalUbe2l3
Chronic Cerebral HypoperfusionBnip3l
Chronic Hepatitis BUbe2l3
Chronic Intermittent HypoxiaBecn1 , Bnip3
chronic myeloid leukemiaUsp15
chronic obstructive pulmonary diseaseBnip3
Closed Head InjuriesBecn1
cognitive disorderPink1 , Prkn
colon adenocarcinomaSrc
colon cancerSrc
colon carcinomaSrc
Colonic NeoplasmsBecn1 , Prkn , Src
colorectal cancerSrc , Usp8
colorectal carcinomaSrc
Colorectal NeoplasmsSrc
congenital disorder of glycosylationPink1 , Src
congenital disorder of glycosylation IdParl
congenital disorder of glycosylation IrPink1
congenital disorder of glycosylation type IIcAmbra1
congestive heart failureBecn1 , Bnip3
coronary artery diseaseParl
Currarino syndromeParl
degenerative disc diseaseBecn1
Dental Pulp ExposureOptn
depressive disorderBecn1
developmental and epileptic encephalopathyCsnk2a2
developmental coordination disorderSqstm1
Developmental DisabilitiesAmbra1
Developmental DiseaseCsnk2a1
Diabetic NephropathiesBecn1
diabetic neuropathyBecn1 , Usp15
DiGeorge syndromeUbe2l3
disease of cellular proliferationSrc
distal 10q deletion syndromeBnip3
distal myopathy with rimmed vacuolesSqstm1
ductal carcinoma in situBnip3 , Src
early infantile epileptic encephalopathyCsnk2a2
early-onset Parkinson's diseasePrkn
Ehlers-Danlos syndrome dermatosparaxis typeSqstm1
end stage renal diseaseBecn1 , Bnip3
epilepsyBecn1 , Csnk2b
esophageal atresiaAmbra1
esophagus adenocarcinomaBecn1
esophagus squamous cell carcinomaUsp8
exfoliation syndromeOptn
Experimental Diabetes MellitusAtg7 , Becn1
Experimental Liver CirrhosisPrkn
Experimental Mammary NeoplasmsCsnk2a1
Experimental SeizuresBecn1
focal epilepsySrc
frontotemporal dementiaOptn , Prkn
frontotemporal dementia and/or amyotrophic lateral sclerosis 1Sqstm1
frontotemporal dementia and/or amyotrophic lateral sclerosis 3Sqstm1
Frontotemporal Lobar DegenerationOptn
genetic diseaseAtxn3 , Csnk2a1 , Csnk2b , Optn , Pink1 , Prkn , Sqstm1
gestational diabetesBnip3l
glaucomaBecn1 , Optn , Sqstm1
Glaucoma 1, Open Angle, EOptn
glioblastomaBecn1 , Prkn
glucose intoleranceSqstm1
GNE myopathySqstm1
Hearing Loss, Noise-InducedSrc
Heat StrokeBecn1
hepatocellular carcinomaAtg7 , Prkn , Src
hereditary spastic paraplegiaUsp8
high grade gliomaAtg7
Huntington's diseaseOptn , Prkn
HyperalgesiaBecn1 , Src
hyperprolinemia type 2Pink1
hypertensionAtg7 , Becn1 , Sqstm1 , Src
hypertrophic cardiomyopathyBecn1
Hypoglossal Nerve InjuriesCsnk2b
hypomyelinating leukodystrophy 5Tomm7
hypoparathyroidism-deafness-renal disease syndromeOptn
Insulin ResistanceParl , Sqstm1
intellectual disabilityAmbra1 , Csnk2a1 , Csnk2b
intrahepatic cholangiocarcinomaBecn1
juvenile-onset Parkinson's diseasePrkn
Kabuki Syndrome 2Fundc1
Kidney Reperfusion InjuryBecn1 , Bnip3 , Src
late onset Parkinson's diseaseAtxn3 , Pink1
learning disabilityPrkn
Leber hereditary optic neuropathyParl
Left Ventricular HypertrophyPrkn
Leigh diseaseParl
leprosyParl , Pink1 , Prkn
Lewy body dementiaBecn1 , Prkn
liver cirrhosisBecn1
Liver FailureAtg7
Liver MetastasisSrc
Liver Reperfusion InjuryAtg7 , Becn1
low tension glaucomaOptn
lung adenocarcinomaPrkn , Src
lung cancerPrkn
lung carcinomaPrkn
lung metastasisSrc
Lung NeoplasmsBecn1 , Prkn
lung squamous cell carcinomaSrc
Lymphatic MetastasisSrc
Machado-Joseph diseaseAtxn3 , Becn1
macular degenerationSqstm1
male infertilityCsnk2a2
Malocclusion, Angle Class IIICsnk2b
Manganese PoisoningBnip3 , Prkn
Memory DisordersPrkn
metabolic dysfunction-associated steatotic liver diseaseAtg7
middle cerebral artery infarctionBecn1 , Bnip3 , Bnip3l
motor neuron diseaseOptn
multiple myelomaBnip3
multiple sclerosisPrkn
multiple system atrophyAmbra1
myelodysplastic syndromeAtg7
myocardial infarctionAtg7 , Becn1 , Bnip3 , Csnk2a1 , Csnk2b
Myocardial Reperfusion InjuryBecn1 , Bnip3
nasopharynx carcinomaSrc
Neoplasm InvasivenessSrc
Neoplasm MetastasisSrc
Nerve DegenerationAtxn3 , Becn1 , Pink1 , Prkn
neural tube defectAmbra1
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetSqstm1
neurodegenerative diseaseAtg7
Neurodevelopmental DisordersAtg7 , Csnk2a1 , Csnk2b , Fundc1
neuronal intranuclear inclusion diseaseOptn
Normal Tension GlaucomaOptn
Okur-Chung Neurodevelopmental SyndromeCsnk2a1
open-angle glaucomaOptn
Osteoarthritis, ExperimentalBecn1 , Ulk1
ovarian cancerPrkn
ovarian cystPrkn
Ovarian NeoplasmsAtg7 , Prkn
Oxygen-Induced RetinopathyCsnk2a1 , Csnk2a2 , Csnk2b
Paget's disease of boneOptn , Sqstm1
Paget's disease of bone 2Sqstm1
Paget's disease of bone 3Sqstm1
pancreatic acinar cell adenocarcinomaSrc
paraplegiaAtg7 , Becn1
Parkinson's diseaseAtg7 , Optn , Pink1 , Prkn
Parkinson's disease 2Prkn
Parkinson's disease 6Pink1
ParkinsonismBecn1 , Pink1 , Prkn , Src
perinatal necrotizing enterocolitisBecn1 , Bnip3
pituitary-dependent Cushing's diseaseUsp8
pleomorphic xanthoastrocytomaTomm7
polycystic kidney diseaseBecn1
Polyglucosan Body Myopathy 1 with or without ImmunodeficiencyCsnk2a1
primary ciliary dyskinesiaTomm7
primary open angle glaucomaOptn
primary ovarian insufficiencyAtg7
progressive myoclonus epilepsyOptn
prostate cancerSrc
Prostatic NeoplasmsBnip3
proteasome-associated autoinflammatory syndrome 1Csnk2b
Reperfusion InjuryBecn1 , Pink1 , Src
retinal degenerationOptn
retinal detachmentBnip3
schizophreniaBecn1 , Prkn
secondary Parkinson diseasePrkn
sensorineural hearing lossSrc
Skin NeoplasmsCsnk2a1 , Csnk2a2 , Csnk2b
Sotos syndromeSqstm1
Spinal Cord InjuriesAmbra1 , Atg7 , Becn1 , Bnip3 , Bnip3l , Sqstm1 , Ulk1
Spinal Cord Reperfusion InjuryBecn1
Spinocerebellar AtaxiasOptn
squamous cell carcinomaCsnk2a1 , Csnk2a2 , Csnk2b
Staphylococcal PneumoniaPrkn
status epilepticusBecn1 , Src
stomach cancerSrc
Stomach NeoplasmsBnip3
Subarachnoid HemorrhageBecn1 , Bnip3 , Prkn
syndromic X-linked intellectual disability Lubs typeFundc1
systemic lupus erythematosusAtg7 , Becn1
Temporomandibular Joint DisordersBecn1
Temporomandibular Joint OsteoarthritisBecn1
Thrombocytopenia 6Src
transient cerebral ischemiaBecn1 , Bnip3 , Optn , Parl , Prkn
Trauma and Stressor Related DisordersSrc
type 2 diabetes mellitusBecn1 , Parl , Prkn , Src
ureteral obstructionBecn1
urinary bladder cancerSrc
viral encephalitisBecn1
Weight LossAtg7
Williams-Beuren syndromeSrc
Wounds and InjuriesOptn
Pathway Annotations Associated with Genes in the mitochondrial autophagy pathway
Pathway TermsGene Symbols
altered mitochondrial autophagy pathwayPink1 , Prkn
altered Reelin signaling pathwaySrc
autophagy pathwayAtg7 , Becn1 , Ulk1
beta-barrel pathway of mitochondrial protein importTomm7
carrier pathway of mitochondrial protein importTomm7
dopamine signaling pathwaySrc
E-cadherin signaling pathwayCsnk2a1 , Csnk2a2 , Csnk2b , Src
eicosanoid signaling pathwaySrc
endocytosis pathwaySrc , Usp8
Endoplasmic Reticulum-associated degradation pathwayAtxn3 , Prkn
endothelin signaling pathwaySrc
ephrin - ephrin receptor bidirectional signaling axisSrc
epidermal growth factor/neuregulin signaling pathwaySrc
estrogen signaling pathwaySrc
FasL mediated signaling pathwaySrc
fibroblast growth factor signaling pathwaySrc
glypican signaling pathwaySrc
gonadotropin-releasing hormone signaling pathwaySrc
hypoxia inducible factor pathwayBnip3
inositol metabolic pathwayAmbra1 , Becn1
interleukin-1 signaling pathwaySqstm1
intrinsic apoptotic pathwayBnip3 , Bnip3l
measles pathwayCsnk2a1 , Csnk2a2 , Csnk2b
mitochondria dynamics pathwayPink1
mitochondrial autophagy pathwayAmbra1 , Atg7 , Atxn3 , Becn1 , Bnip3 , Bnip3l , Csnk2a1 , Csnk2a2 , Csnk2b , Fundc1 , Optn , Parl , Pgam5 , Pink1 , Prkn , Sqstm1 , Src , Tomm7 , Ube2l3 , Ulk1 , Usp15 , Usp30 , Usp8
mTOR signaling pathwayBnip3 , Ulk1
nerve growth factor signaling pathwaySrc
nuclear factor kappa B signaling pathwayCsnk2a1 , Csnk2a2 , Csnk2b , Src
nuclear factor, erythroid 2 like 2 signaling pathwayPgam5 , Sqstm1
Parkinson's disease pathwayPink1 , Prkn , Ube2l3
phosphatidylinositol 3-kinase class I signaling pathwaySrc
phosphatidylinositol 3-kinase-Akt signaling pathwaySrc
phosphoinositide metabolic pathwayAmbra1 , Becn1
platelet-derived growth factor signaling pathwayCsnk2a1 , Src
presequence pathway of mitochondrial protein importTomm7
Reelin signaling pathwaySrc
ribosome biogenesis pathwayCsnk2a1 , Csnk2a2 , Csnk2b
scatter factor/hepatocyte growth factor signaling pathwaySrc
signaling pathway pertinent to the brain and nervous systemSrc
somatostatin signaling pathwaySrc
sphingosine 1-phosphate signaling pathwaySrc
syndecan signaling pathwaySrc
tuberculosis pathwaySrc
tumor necrosis factor mediated signaling pathwaySqstm1
ubiquitin/proteasome degradation pathwayPrkn , Src , Ube2l3
vascular endothelial growth factor signaling pathwaySrc
Wnt signaling pathwayCsnk2a1 , Csnk2a2 , Csnk2b
Phenotype Annotations Associated with Genes in the mitochondrial autophagy pathway

References Associated with the mitochondrial autophagy pathway:

Ontology Path Diagram:

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Import into Pathway Studio: