Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65018
Gene name	PTEN induced kinase 1
Gene symbol	PINK1
Synonyms (NCBI Gene)	BRPKPARK6
Chromosome	1
Chromosome location	1p36.12
Summary	This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45604240	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs74315357	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs74315360	C>A	Pathogenic	Missense variant, coding sequence variant
rs756677845	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs756783990	C>A	Pathogenic	Coding sequence variant, stop gained
rs768091663	G>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs1557561340	C>-	Pathogenic	Coding sequence variant, frameshift variant

154

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miRTarBase ID	miRNA	Experiments
MIRT1235378	hsa-miR-2116	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT1235382	hsa-miR-4677-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT1235384	hsa-miR-4776-3p	CLIP-seq
MIRT2296341	hsa-miR-1245b-3p	CLIP-seq
MIRT2296342	hsa-miR-198	CLIP-seq
MIRT2296343	hsa-miR-199a-3p	CLIP-seq
MIRT2296344	hsa-miR-199b-3p	CLIP-seq
MIRT2296345	hsa-miR-2467-3p	CLIP-seq
MIRT2296346	hsa-miR-3129-5p	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2296348	hsa-miR-3942-3p	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT2296354	hsa-miR-4760-3p	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq
MIRT2296358	hsa-miR-936	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2456519	hsa-miR-1229	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2465845	hsa-miR-759	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2594059	hsa-miR-1238	CLIP-seq
MIRT2594060	hsa-miR-1254	CLIP-seq
MIRT2594061	hsa-miR-1258	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2594062	hsa-miR-1324	CLIP-seq
MIRT2594063	hsa-miR-1825	CLIP-seq
MIRT2594064	hsa-miR-1910	CLIP-seq
MIRT2594065	hsa-miR-1913	CLIP-seq
MIRT2594066	hsa-miR-205	CLIP-seq
MIRT2594067	hsa-miR-2277-3p	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2594068	hsa-miR-28-3p	CLIP-seq
MIRT2594069	hsa-miR-2964a-5p	CLIP-seq
MIRT2594070	hsa-miR-3116	CLIP-seq
MIRT2594071	hsa-miR-3127-3p	CLIP-seq
MIRT2594072	hsa-miR-3152-3p	CLIP-seq
MIRT2594073	hsa-miR-3183	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2594074	hsa-miR-324-3p	CLIP-seq
MIRT2594075	hsa-miR-346	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT2594076	hsa-miR-3676	CLIP-seq
MIRT2594077	hsa-miR-3688-5p	CLIP-seq
MIRT2594078	hsa-miR-3691-5p	CLIP-seq
MIRT2594079	hsa-miR-4264	CLIP-seq
MIRT2594080	hsa-miR-4278	CLIP-seq
MIRT2594081	hsa-miR-4288	CLIP-seq
MIRT2594082	hsa-miR-4297	CLIP-seq
MIRT2594083	hsa-miR-4312	CLIP-seq
MIRT2594084	hsa-miR-4313	CLIP-seq
MIRT2594085	hsa-miR-4326	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2594086	hsa-miR-4470	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2594087	hsa-miR-455-3p	CLIP-seq
MIRT2594088	hsa-miR-4650-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT2594089	hsa-miR-4667-3p	CLIP-seq
MIRT2594090	hsa-miR-4676-5p	CLIP-seq
MIRT2594091	hsa-miR-4688	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT2594092	hsa-miR-4723-3p	CLIP-seq
MIRT2594093	hsa-miR-4752	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2594094	hsa-miR-515-3p	CLIP-seq
MIRT2594095	hsa-miR-519e	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2594096	hsa-miR-575	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2594097	hsa-miR-632	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2594059	hsa-miR-1238	CLIP-seq
MIRT2594060	hsa-miR-1254	CLIP-seq
MIRT2594061	hsa-miR-1258	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2594062	hsa-miR-1324	CLIP-seq
MIRT2594063	hsa-miR-1825	CLIP-seq
MIRT2594064	hsa-miR-1910	CLIP-seq
MIRT2594065	hsa-miR-1913	CLIP-seq
MIRT2594066	hsa-miR-205	CLIP-seq
MIRT1235378	hsa-miR-2116	CLIP-seq
MIRT2594067	hsa-miR-2277-3p	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2594068	hsa-miR-28-3p	CLIP-seq
MIRT2594069	hsa-miR-2964a-5p	CLIP-seq
MIRT2594070	hsa-miR-3116	CLIP-seq
MIRT2594071	hsa-miR-3127-3p	CLIP-seq
MIRT2594072	hsa-miR-3152-3p	CLIP-seq
MIRT2594073	hsa-miR-3183	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2594074	hsa-miR-324-3p	CLIP-seq
MIRT2594075	hsa-miR-346	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT2594076	hsa-miR-3676	CLIP-seq
MIRT2594077	hsa-miR-3688-5p	CLIP-seq
MIRT2594078	hsa-miR-3691-5p	CLIP-seq
MIRT2594079	hsa-miR-4264	CLIP-seq
MIRT2594080	hsa-miR-4278	CLIP-seq
MIRT2594081	hsa-miR-4288	CLIP-seq
MIRT2594082	hsa-miR-4297	CLIP-seq
MIRT2594083	hsa-miR-4312	CLIP-seq
MIRT2594084	hsa-miR-4313	CLIP-seq
MIRT2594085	hsa-miR-4326	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2594086	hsa-miR-4470	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2594087	hsa-miR-455-3p	CLIP-seq
MIRT2594088	hsa-miR-4650-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT2594089	hsa-miR-4667-3p	CLIP-seq
MIRT2594090	hsa-miR-4676-5p	CLIP-seq
MIRT1235382	hsa-miR-4677-5p	CLIP-seq
MIRT2594091	hsa-miR-4688	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT2594092	hsa-miR-4723-3p	CLIP-seq
MIRT2594093	hsa-miR-4752	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2594094	hsa-miR-515-3p	CLIP-seq
MIRT2594095	hsa-miR-519e	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2594096	hsa-miR-575	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2594097	hsa-miR-632	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq

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Show/Hide all (155)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	14607334
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000422	Process	Autophagy of mitochondrion	IMP	20798600, 23933751, 24896179
GO:0000423	Process	Mitophagy	IDA	38081847
GO:0000423	Process	Mitophagy	IDA	38081847
GO:0000423	Process	Mitophagy	IEA
GO:0000423	Process	Mitophagy	IGI	33406421
GO:0000785	Component	Chromatin	IDA	24798695
GO:0002020	Function	Protease binding	IPI	21138942
GO:0002020	Function	Protease binding	TAS	24522549
GO:0002082	Process	Regulation of oxidative phosphorylation	IDA	20871098
GO:0002931	Process	Response to ischemia	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	25527497, 32047033
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	24751536, 24784582, 25474007
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14607334, 17579517, 19880420, 21177249, 24784582, 25527291
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	24522549
GO:0005515	Function	Protein binding	IPI	16632486, 17579517, 19229105, 19966284, 20153330, 21177249, 22078885, 22939624, 23933751, 24357652, 24475098, 25814554, 31536960, 32814053, 33961781, 35391620, 37160114, 38848361
GO:0005524	Function	ATP binding	IDA	14607334
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	24798695
GO:0005737	Component	Cytoplasm	IDA	16702191
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	23885119
GO:0005739	Component	Mitochondrion	IDA	15087508, 15824318, 16702191, 18957282, 19229105, 20798600, 21138942, 22354088, 23933751, 31536960
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IGI	21355049
GO:0005739	Component	Mitochondrion	IMP	24184327
GO:0005741	Component	Mitochondrial outer membrane	IDA	18687899, 21426348
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	IMP	25527497
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005743	Component	Mitochondrial inner membrane	IDA	17579517, 21426348
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17579517, 21426348
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	31536960
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	18957282, 19229105, 19880420, 20798600, 21138942, 21426348, 24798695
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	24798695
GO:0006468	Process	Protein phosphorylation	IDA	14607334, 25527291, 32139798
GO:0006468	Process	Protein phosphorylation	IMP	18957282
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	24522549
GO:0006914	Process	Autophagy	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006979	Process	Response to oxidative stress	IGI	24475098
GO:0007005	Process	Mitochondrion organization	IMP	18560593
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS	24475098
GO:0010821	Process	Regulation of mitochondrion organization	IMP	21508222
GO:0014046	Process	Dopamine secretion	IEA
GO:0016020	Component	Membrane	IDA	24798695
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0016239	Process	Positive regulation of macroautophagy	IMP	20871098
GO:0016242	Process	Negative regulation of macroautophagy	IMP	19279012
GO:0016301	Function	Kinase activity	IDA	15824318
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	NAS	21563316
GO:0016504	Function	Peptidase activator activity	TAS	24522549
GO:0016567	Process	Protein ubiquitination	IMP	23933751
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	IPI	21177249
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030097	Process	Hemopoiesis	IGI	33406421
GO:0030335	Process	Positive regulation of cell migration	IMP	21177249
GO:0030424	Component	Axon	IDA	16702191
GO:0030426	Component	Growth cone	IEA
GO:0031396	Process	Regulation of protein ubiquitination	IDA	19880420
GO:0031396	Process	Regulation of protein ubiquitination	IMP	20871098, 23212910
GO:0031398	Process	Positive regulation of protein ubiquitination	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	20798600
GO:0032226	Process	Positive regulation of synaptic transmission, dopaminergic	IEA
GO:0033603	Process	Positive regulation of dopamine secretion	IEA
GO:0033605	Process	Positive regulation of catecholamine secretion	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	22764206
GO:0034599	Process	Cellular response to oxidative stress	TAS	24522549
GO:0035556	Process	Intracellular signal transduction	IDA	14607334
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038203	Process	TORC2 signaling	IDA	21177249
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	19880420
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	19880420
GO:0043422	Function	Protein kinase B binding	IDA	21177249
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IMP	18560593
GO:0044297	Component	Cell body	IDA	16702191
GO:0044877	Function	Protein-containing complex binding	IMP	24270810
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046329	Process	Negative regulation of JNK cascade	TAS	18221368
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16702191
GO:0050432	Process	Catecholamine secretion	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IGI	24475098
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	18560593, 21138942
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	21177249
GO:0055131	Function	C3HC4-type RING finger domain binding	IPI	19880420
GO:0061136	Process	Regulation of proteasomal protein catabolic process	NAS	22078885
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	IMP	24553947
GO:0072655	Process	Establishment of protein localization to mitochondrion	IMP	18957282, 25527497
GO:0072656	Process	Maintenance of protein location in mitochondrion	IMP	25527497
GO:0090141	Process	Positive regulation of mitochondrial fission	IBA
GO:0090141	Process	Positive regulation of mitochondrial fission	IEA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IMP	19880420
GO:0090258	Process	Negative regulation of mitochondrial fission	IMP	19279012
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097237	Process	Cellular response to toxic substance	TAS	18221368
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097449	Component	Astrocyte projection	IDA	16702191
GO:0099074	Process	Mitochondrion to lysosome vesicle-mediated transport	IMP	24446486
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IMP	32484300
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	24446486
GO:1901525	Process	Negative regulation of mitophagy	IMP	19279012
GO:1902803	Process	Regulation of synaptic vesicle transport	TAS	21563316
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	19279012
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IEA
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	TAS	21138942
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	21563316
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IGI	21508222
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IMP	23212910
GO:1903298	Process	Negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	16632486
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IDA	21177249
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IMP	23261939
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA	17579517
GO:1903852	Process	Positive regulation of cristae formation	IMP	19279012
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1904544	Process	Positive regulation of free ubiquitin chain polymerization	ISS
GO:1904881	Process	Cellular response to hydrogen sulfide	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IMP	20871098
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IGI	24475098
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	21138942
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IMP	18560593
GO:2001171	Process	Positive regulation of ATP biosynthetic process	TAS	20871098
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IDA	15087508

MIM	HGNC	e!Ensembl
608309	14581	ENSG00000158828

Q9BXM7

Protein name

Serine/threonine-protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN-induced putative kinase protein 1)

Protein function

Serine/threonine-protein kinase which acts as a sensor of mitochondrial damage and protects against mitochondrial dysfunction during cellular stress. It phosphorylates mitochondrial proteins to coordinate mitochondrial quality control mechanisms

PDB

9EIH , 9EII , 9EIJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	264 → 509	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage of development. {ECO:00002

Sequence

MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVG
LGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRR
AVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQSIGKGCSAAVYEATMPTLPQ
NLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP
SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAH
RDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVST
ARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLL
ANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL

Sequence length

581

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Pink/Parkin Mediated Mitophagy

352

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive early-onset Parkinson disease 6	Pathogenic; Likely pathogenic	rs775479526, rs1480758482, rs2154533643, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs756677845, rs775809722 View all (19 more)	RCV001917853 RCV001960635 RCV001915142 RCV000002505 RCV000002506 RCV000002507 RCV000002508 RCV000002509 RCV000002510 RCV000002511 RCV000002514 RCV000002515 RCV000002516 RCV000169671 RCV002630051 RCV002857327 RCV002908184 RCV002913039 RCV003027398 RCV003388717 RCV005104287 RCV003497597 RCV003604241 RCV003604966 RCV003604567 RCV004577291 RCV000814157 RCV000705048 RCV000778216 RCV000778217 RCV000818442 RCV000822134 RCV001202589 RCV001235370
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	Pathogenic	rs119451946	RCV000002518
PINK1-related disorder	Pathogenic; Likely pathogenic	rs775479526, rs45539432, rs2545259625, rs34208370	RCV004741132 RCV004739278 RCV003397247 RCV004740269
Thymoma	Pathogenic	rs34208370	RCV005899800

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs144719866	RCV005919059
Clear cell carcinoma of kidney	Benign	rs115477764	RCV005895738
Colon adenocarcinoma	Benign	rs115477764	RCV005895736
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	rs758604046, rs192131551	RCV005923930 RCV005895862
Gastric cancer	Benign	rs115477764	RCV005895739
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs548506734	RCV005908539
Leprosy, susceptibility to, 1	Uncertain risk allele	rs650616	RCV002291820
Lung cancer	Benign; Uncertain significance	rs115477764, rs372280083	RCV005895740 RCV005900686
Malignant tumor of esophagus	Likely benign; Benign	rs144719866, rs115477764	RCV005919058 RCV005895737
Neuroblastoma	Uncertain significance	rs2545258365	RCV003444049
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	rs144719866, rs56217826	RCV005919061 RCV005900213
Parkinson disease 6	risk factor	rs74315361	RCV000002517
Parkinson disease, late-onset	Uncertain significance	rs371854396, rs398124659	RCV000082875 RCV000082876
Parkinson Disease, Recessive	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs3077906, rs556390159, rs559542, rs190393061, rs886045849, rs150466875	RCV000261692 RCV000350731 RCV000303398 RCV000330748 RCV000360734 RCV000341895
Sarcoma	Likely benign	rs144719866	RCV005919060
See cases	Uncertain significance	rs201940147, rs746940423	RCV002252699 RCV002252773
Uterine corpus endometrial carcinoma	Likely benign	rs144719866	RCV005919062
Uveal melanoma	Conflicting classifications of pathogenicity	rs192131551	RCV005895863

Show/Hide Text Mining Associations (113)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	33494815
Adenocarcinoma	Associate	29937472, 34252349
Adenocarcinoma of Lung	Associate	29937472, 40243539
Adrenocortical Carcinoma	Associate	30770352
Affective Disorders Psychotic	Associate	17202228
Aggressive Periodontitis	Associate	29995846
Alzheimer Disease	Associate	21145388, 26721933, 29091718, 33998543
Alzheimer's disease without Neurofibrillary tangles	Associate	25899925
Amyotrophic Lateral Sclerosis	Associate	26365381, 32779864, 36379251
Attention Deficit Disorder with Hyperactivity	Associate	29413154
Brain Diseases	Associate	21145388
Brain Ischemia	Stimulate	34389795
Brain Ischemia	Associate	35760846
Brain Neoplasms	Associate	40243539
Breast Neoplasms	Associate	33888730, 33929971, 35410525
Bronchopulmonary Dysplasia	Inhibit	36261501
Carcinogenesis	Associate	31577952, 37108343
Carcinoma Basal Cell	Associate	37108343
Carcinoma Hepatocellular	Associate	36430876, 36964576
Carcinoma Non Small Cell Lung	Associate	26245297, 38155968
Carcinoma Renal Cell	Inhibit	33139776
Carcinoma Renal Cell	Associate	37382962, 37689589, 40318378
Carcinoma Squamous Cell	Associate	34517553
Carotid Artery Diseases	Associate	29156421
Chromosomal Instability	Associate	31515286
Chromosome Disorders	Associate	31515286
Cognition Disorders	Associate	27413743, 27788143
Colonic Neoplasms	Associate	37047483
Colorectal Neoplasms	Associate	35581181, 36871142, 37037306, 37784019
Death	Inhibit	36261501
Demyelinating Diseases	Associate	21145388
Diabetes Mellitus Type 2	Inhibit	35605453
Diffuse Neurofibrillary Tangles with Calcification	Associate	35164877
Disease	Associate	35203326
Down Syndrome	Associate	31332166
Drug Related Side Effects and Adverse Reactions	Associate	37307677, 39305773
Dyskinesia Drug Induced	Associate	37906549
Dystonia	Associate	25226871
Endometrial Neoplasms	Associate	34616150
Endometriosis	Associate	33029756
Esophageal Squamous Cell Carcinoma	Inhibit	37833780
Frontotemporal Dementia	Associate	18685134
Frontotemporal Lobar Degeneration	Associate	36361641
Gait Disorders Neurologic	Associate	25226871, 28789629
Genetic Diseases Inborn	Associate	18486522, 23251494, 27605430
Glioblastoma	Inhibit	30595797, 34964241
Glioblastoma	Associate	40565152
Glomerulonephritis Membranous	Associate	32636217
Heart Diseases	Associate	19038850, 37649075
Hyperoxia	Inhibit	36261501
Hypertension	Associate	32664164
Hypokinesia	Associate	18685134
Hypoxia	Associate	30229848
Hypoxia	Stimulate	33496385
Idiopathic Pulmonary Fibrosis	Inhibit	31775876
Immunologic Deficiency Syndromes	Associate	31332166
Inflammation	Associate	33029617
Iron Deficiencies	Associate	33023155
Ischemia	Associate	35760846, 36788635
Leprosy	Associate	27876828
Lung Neoplasms	Associate	26245297, 29937472
Macular Degeneration	Inhibit	35921555
Malformations of Cortical Development Group I	Associate	16079129
Melanoma	Associate	29229974
Memory Disorders	Stimulate	27788143
Menkes Kinky Hair Syndrome	Associate	35030052
Mental Disorders	Associate	17202228
Mitochondrial cytopathy	Stimulate	19815446
Mitochondrial Diseases	Associate	17989306, 19242547, 19270741, 19492085, 21138942, 21139416, 21145388, 21177249, 24088173, 24184327, 24270810, 24446486, 24928900, 25226871, 25284222 View all (25 more)
Mitochondrial Diseases	Stimulate	19815446, 26471730
Mitochondrial Diseases	Inhibit	20871098, 37649075
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	33998543
Mosaic variegated aneuploidy syndrome	Associate	31515286
Movement Disorders	Associate	33539026
Multiple Myeloma	Associate	35677537, 37700273
Multiple Sclerosis	Associate	21145388, 34421896
Multiple Sclerosis Relapsing Remitting	Associate	33723372
Myocardial Infarction	Stimulate	35760846
Myopathy with Giant Abnormal Mitochondria	Associate	19966284, 24149988, 26365381, 26509433, 31110043, 31775876
Myositis	Associate	35203326
Nasal Polyps	Associate	35747690
Neoplasm Metastasis	Associate	33139776, 36529692, 37047483
Neoplasms	Associate	21242281, 26245297, 27459917, 28930681, 29229974, 29937472, 33139776, 35203326, 37689589, 40243539, 40565152
Neoplasms	Inhibit	31577952, 35410525, 37833780
Nerve Degeneration	Associate	16079129, 21177249, 25226871, 31778937, 33998543, 37014258, 38103334
Nervous System Diseases	Associate	19038850
Neurobehavioral Manifestations	Associate	27788143
Neurodegenerative Diseases	Associate	16079129, 19966284, 26101826, 28281653, 32779864, 32945555, 33891871, 34586830, 35203326, 36361641, 36379251
Neurologic Manifestations	Associate	23251494
Neurotoxicity Syndromes	Associate	33383311
Osteosarcoma	Associate	36823640
Oto palato digital syndrome type 2	Stimulate	35905946
Pancreatic Neoplasms	Associate	36906621
Parkinson Disease	Associate	16079129, 16354302, 17172567, 17362513, 17412603, 17989306, 18211709, 18330912, 18486522, 18685134, 19038850, 19205068, 19229105, 19242547, 19270741 View all (112 more)
Parkinson Disease	Inhibit	24800761
Parkinson Disease Familial Type 1	Associate	18211709, 23212910
Parkinson Disease Secondary	Associate	16354302, 17172567, 17202228, 18330912, 18685134, 19087301, 19815446, 21145388, 21366594, 25226871, 27302064, 27413743, 28789629, 29229974, 30237140, 30788857, 33029617 View all (2 more)
Parkinsonian Disorders	Associate	11254447, 11462174, 17172567, 17989306, 18330912, 18685134, 19087301, 19205068, 19351622, 19492085, 20940149, 22623900, 23251494, 23459931, 24149440 View all (9 more)
Parkinsonism Dystonia Infantile	Associate	23251494
Patterned dystrophy of retinal pigment epithelium	Associate	30012208
Plaque Amyloid	Associate	21145388
Pulmonary Disease Chronic Obstructive	Associate	24088173, 36217332, 38110986
Reperfusion Injury	Stimulate	36788635
Reperfusion Injury	Associate	38012584, 38062110
Respiratory Insufficiency	Associate	22043288
Schizophrenia	Associate	17202228
Sepsis	Inhibit	33494815
Sleep Deprivation	Associate	19492085
Status Asthmaticus	Associate	33253229
Stomach Neoplasms	Associate	40603395
Turcot syndrome	Associate	21242281
Vascular System Injuries	Associate	21145388
Ventricular Remodeling	Stimulate	32664164

PINK1 (PTEN induced kinase 1)