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Set Analyses:

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PINK1 Gene

protein-coding GIFtS: 67
GCID: GC01P020959

PTEN Induced Putative Kinase 1

(Previous name: Parkinson disease (autosomal recessive) 6)
(Previous symbol: PARK6)

Alzheimer's & Parkinson's Diseases Congress

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
PTEN Induced Putative Kinase 1¹ ²		Parkinson Disease (Autosomal Recessive) 6¹
PARK6¹ ² ⁵		Protein Kinase BRPK²
BRPK² ³		Serine/Threonine-Protein Kinase PINK1, Mitochondrial²
PTEN-Induced Putative Kinase Protein 1² ³		EC 2.7.11.1³

External Ids:	HGNC: 14581¹	Entrez Gene: 65018²	Ensembl: ENSG00000158828⁷	OMIM: 608309⁵	UniProtKB: Q9BXM7³

Export aliases for PINK1 gene to outside databases

Previous GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PINK1 Gene:

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for PINK1 Gene:

PINK1 (PTEN induced putative kinase 1) is a protein-coding gene. Diseases associated with PINK1 include parkinson disease 6, early onset, and pink1 type of young-onset parkinson disease. GO annotations related to this gene include protein serine/threonine kinase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7

Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating

mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).

Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2

Gene Wiki entry for PINK1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the PINK1 gene promoter:
NF-1/L NF-1 LHX3b/Lhx3b AP-1 SREBP-1c ATF-2 SREBP-1b SREBP-1a LHX3a/Lhx3a c-Jun
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for PINK1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PINK1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.12

PINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PINK1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P020959: view genomic region (about GC identifiers)

Start:	20,959,948 bp from pter	End:	20,978,004 bp from pter
Size:	18,057 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7 (See protein sequence)

Recommended Name: Serine/threonine-protein kinase PINK1, mitochondrial precursor

Size: 581 amino acids; 62769 Da

Cofactor: Magnesium

Subunit: Interacts with PARK2. Interacts with FBXO7

Secondary accessions: Q8N6T9 Q8NBU3 Q96DE4

Alternative splicing: 2 isoforms: Q9BXM7-1 Q9BXM7-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7

Explore proteomics data for PINK1 at MOPED

Post-translational modifications:

Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PINK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115785.1

ENSEMBL proteins:

ENSP00000364204

PINK1 Human Recombinant Protein Products:

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	Novus Biologicals PINK1 Proteins Novus Biologicals PINK1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for PINK1
	Cloud-Clone Corp. Proteins for PINK1

PINK1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PINK1
	R&D Systems Antibodies for PINK1
	Cell Signaling Technology (CST) Antibodies for PINK1
	OriGene Antibodies for PINK1 OriGene Custom Antibody Services for PINK1
	Novus Biologicals PINK1 Antibodies
	Abcam antibodies for PINK1
	Cloud-Clone Corp. Antibodies for PINK1
	ThermoFisher Antibodies for PINK1
	LSBio Antibodies in human, mouse, rat for PINK1

PINK1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for PINK1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PINK1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for PINK1 Cloud-Clone Corp. CLIAs for PINK1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PARK: Parkinson disease

IUPHAR Guide to PHARMACOLOGY protein family classification: PTEN induced putative kinase 1

NKF2 family

3 InterPro protein domains:

IPR011009 Kinase-like_dom

IPR008271 Ser/Thr_kinase_AS

IPR000719 Prot_kinase_dom

Graphical View of Domain Structure for InterPro Entry Q9BXM7

ProtoNet protein and cluster: Q9BXM7

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7

Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family

Similarity: Contains 1 protein kinase domain

PINK1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PINK1_HUMAN, Q9BXM7

Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating

mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).

Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme Number (IUBMB): EC 2.7.11.1¹

Gene Ontology (GO): Selected molecular function terms (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IDA	14607334
GO:0004672	protein kinase activity	--	--
GO:0004674	protein serine/threonine kinase activity	IDA	14607334
GO:0004713	protein tyrosine kinase activity	--	--
GO:0005515	protein binding	IPI	--

PINK1 for ontologies About GeneDecksing

Phenotypes:
6 GenomeRNAi human phenotypes for PINK1:

Decreased viability	Increased 8N DNA content	Increased cell size	Increased cell spreading
Synthetic lethal with Ras	Wnt reporter downregulated

9 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Pink1):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size/body	homeostasis/metabolism
immune system	nervous system	no phenotypic analysis	taste/olfaction

PINK1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for PINK1: Pink1^tm1Zhzh Pink1^tm1Vbae Pink1^tm1Hlw Pink1^tm1Shn Pink1^tm1.1Wrst Pink1^tm1Hbu
                                                     Pink1^tm1Ncw

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PINK1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PINK1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PINK1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PINK1

miRNA Products:		Block miRNA regulation of human, mouse, rat PINK1 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate PINK1:
		hsa-miR-222* hsa-miR-532-3p
		SwitchGear 3'UTR luciferase reporter plasmid: PINK1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PINK1
		Predesigned siRNA for gene silencing in human, mouse, rat PINK1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PINK1

Clone Products:		OriGene clones in human, mouse for PINK1 (see all 7) OriGene ORF clones in mouse, rat for PINK1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122)
		Sino Biological Human cDNA Clone for PINK1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PINK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PINK1
		Browse ESI BIO Cell Lines and PureStem Progenitors for PINK1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PINK1_HUMAN, Q9BXM7: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	5
mitochondrion	5

About this image

Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	15087508
GO:0005741	mitochondrial outer membrane	IEA	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005829	cytosol	IDA	19880420
GO:0016021	integral component of membrane	IEA	--

PINK1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PINK1 About

See pathways by source

SuperPath

Contained pathways About

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Parkinson's disease

0.57

CDK-mediated phosphorylation and removal of Cdc6

Parkinson's Disease Pathway

0.31

Parkinsons Disease Pathway

Parkinsons Disease Pathway

Neuroscience

Neuroscience

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PINK1

Parkinson's Disease Pathway

1 Cell Signaling Technology (CST) Pathway for PINK1

Neuroscience

1 BioSystems Pathway for PINK1

Parkinsons Disease Pathway

1 Kegg Pathway (Kegg details for PINK1):

Parkinson's disease

PINK1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including PINK1:

Parkinson's Disease in human mouse rat

Autophagy in human mouse rat

Interactions:

GeneGlobe Interaction Network for PINK1

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

Selected Interacting proteins for PINK1 (Q9BXM7^{1, 2, 3} ENSP00000364204⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TOMM20	Q15388²^,³, ENSP00000355566⁴	MINT-7557121 MINT-7557138 I2D: score=1 STRING: ENSP00000355566
PARK2	O60260²^,³, ENSP00000355865⁴	MINT-7557138 I2D: score=2 STRING: ENSP00000355865
MAP1LC3B	Q9GZQ8¹^,²^,³, ENSP00000268607⁴	EBI-2846068,EBI-373144 MINT-7557195 MINT-7557109 MINT-7557173 I2D: score=1 STRING: ENSP00000268607
PTEN	P60484³, ENSP00000361021⁴	I2D: score=1 STRING: ENSP00000361021
RHOT1	Q8IXI2¹, ENSP00000351132⁴	EBI-2846068,EBI-1396430 STRING: ENSP00000351132

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Gene Ontology (GO): Selected biological process terms (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000422	mitochondrion degradation	IMP	--
GO:0006468	protein phosphorylation	IDA	14607334
GO:0006950	response to stress	IDA	15087508
GO:0008219	cell death	IEA	--
GO:0016567	protein ubiquitination	IMP	--

PINK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PINK1

3 HMDB Compounds for PINK1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

6 Novoseek inferred chemical compound relationships for PINK1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
levodopa	53.4	2	18307263 (1), 16179113 (1)
threonine	49.5	18	19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 12)
dopamine	41.2	7	19895857 (1), 17563363 (1), 19694908 (1), 17713119 (1) (see all 8)
serine	35.8	17	19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 11)
atp	17.2	6	19546216 (1), 16966503 (1), 19242547 (1)
methionine	0	1	16179113 (1)

PINK1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PINK1 gene:

NM_032409.2

Unigene Cluster for PINK1:

PTEN induced putative kinase 1

Hs.389171 [show with all ESTs]

Unigene Representative Sequence: AB053323

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat PINK1 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate PINK1:
		hsa-miR-222* hsa-miR-532-3p
		SwitchGear 3'UTR luciferase reporter plasmid: PINK1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PINK1
		Predesigned siRNA for gene silencing in human, mouse, rat PINK1

Clone Products:		OriGene clones in human, mouse for PINK1 (see all 7) OriGene ORF clones in mouse, rat for PINK1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PINK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1

Primer Products:		OriGene qPCR primer pairs and template standards for PINK1 OriGene qSTAR qPCR primer pairs in human, mouse for PINK1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PINK1
		QuantiTect SYBR Green Assays in human, mouse, rat PINK1
		QuantiFast Probe-based Assays in human, mouse, rat PINK1

Additional mRNA sequence:

AB053323.1 AF316873.1 BC009534.1 BC028215.1

16 DOTS entries:

DT.95148807 DT.99990789 DT.445984 DT.100824921 DT.100801355 DT.100824919 DT.95226113 DT.100824908

DT.80100175 DT.86836539 DT.100824911 DT.100824917 DT.40191712 DT.95148814 DT.95148815 DT.86853366

368 AceView cDNA sequences (see top 24):

BU751789 AA879128 AI424391 BG055986 CD558848 BM352779 CB153545 BF448942

BU625739 AJ709870 CR601045 CB215266 CD679228 BF196557 N75032 CB118069

CB122562 BQ672284 AI536608 CF131513 BE531293 AA304888 AA551902 AL042585

AA629236 BE615427 Z28931 CR597726 AW167936 BQ888270 CD556731 AW163235

BQ067984 BG251046 BQ673642 AW195963 F24228 BI550404 BM826082 BV206148

AL047113 BE551215 CA438430 BM906536 AA775785 NM_032409 BC028215 CF552838

AI095948 BQ220049 T16543 BX379881 BQ946181 BG724163 AI139125 BG469917

BC009534 BQ671340 BM672312 BQ719945 BG743140 CA748493 BQ002157 AW087105

CF456059 BM712069 AL539304 BI549803 BI463350 CD251466 F36249 AA889524

BF448747 BX419725 BU741852 BM989539 AA548095 AL566431 BF221700 AF316873

Z41016 BE542802 BG818239 CD633944 AI335794 BG819736 CD107310 F36618

BF939341 BU688765 BG421906 AA412184 AK075225 AI023030 AW166840 AA679015

CD367969 AI435233 CA445882 BU618719 AA971541 BX381614 BQ639222 CK005665

CD300239 AI263075 AI926980 BU196180 AI680230 AA047065 BQ029290 BQ675156

AI031875 BM055323 BE855587 R20725 BG323914 BU540842 BM055044 BG720369

BG254661 BX108848 AV683196 BG037122 AL529469 BG717166 BX423086 AW276215

AB053323 BQ720889 CA309439 BI333286 CF132446 BG742174 BG681388 CB957008

BM694692 BG740627 BM980430 BX365245 BQ695305 CF126957 AW954595 BE855607

AA641335 AL703800 BG769071 BF790080 AL536329 BU620256 AL536672 BE784243

F26938 T33095 AA746653 BF980231 BQ446916 AA350696 AA487375 CN481736

BG536348 BG707757 BM670356 CD172283 BE892523 AW302576 BG741328 AA985622

BF508598 AA399022 BG286617 BM696442 BM352461 AK130746 BG818432 AA310219

W57970 BI911729 BU731213 BM721426 BQ668581 BG701901 BU735067 BX337800

BX419443 AL514318 BU633336 AI831763 BQ009945 AI276400 AW072808 AI659890

CB306388 BG576548 BQ711470 BX428145 AA889690 AL574789 BU933183 AA321338

H05724 AW050764 CD366613 AI799950 W57943 AI928017 W93260 BI463463

BG717981 N27679 T60610 BP429618 AL563450 AI565719 AW206559 F28985

W93259 BG764494 BG250369 T03570 BX365244 C02881 AI865828 BG899509

AI097316 BM729334 F07946 AW072944 AI654066 AI127815 BM686863 CD675722

AI816481 AA634825 AJ346800 BQ005586 BI546524 AJ346680 CK024147 AA349748

BI461703 AI743848 BG327518 BM926761 BM922581 BF432478 CD368536 BG723515

AA350695 AW157232 AI127825 CA312853 AA633701 BX424818 BG023743 AL520234

BF339895 BX335693 AA551249 AI122543 AI760635 BG563751 AA678132 CN484387

BE504941 AW339323 AL567774 BG993607 BG482482 AW272088 BU077423 BE857093

BE669820 AL575112 AW579873 AL539778 BM700977 BX338944 BI553166 BF435569

F34216 AA417189 AA780630 BX461139 BQ675060 CB157630 AI942273 AI815541

BF477412 AA707546 T36182 W37966 AA047066 AL551136 AL539779 BE156560

AA026534 BG335222 F21936 BX335692 BM697730 BX392878 AL575088 BF819333

CA312630 AI078710 BG013305 BF590006 BI908530 AW235628 BE539390 BF807175

F27161 BE156571 T35599 BF352372 AA302209 AL520235 F27483 AA487258

R49219 BI765601 BG222901 T98274 T16953 CD633940 BI824327 T15613

F31833 AK093117 CD633942 BF508621 AL536328 BI459968 AW015944 BF927372

BG027367 BI603967 R35339 AA248211 AX747934 W05632 BI496694 H05721

CD685607 BF769022 CD633946 BE178119 T60454 BM719671 N20842 CK003907

CD514206 CD723935 AW954587 BE874486 CA450357 CD105931 H05723 BX455296

W69777 R50834 BQ336236 R12813 BI054689 T98513 AW954100 R55748

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for PINK1 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b
SP1:					-						-
SP2:											-
SP3:

ECgene alternative splicing isoforms for PINK1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PINK1 expression in normal human tissues (normalized intensities) PINK1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGGCCTGGGC

About this image

PINK1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

Neural Tube (Nervous System)
Metencephalon

Blood (Hematopoietic System)
Granulocytes Peripheral Blood

Kidney (Urinary System)

Thyroid (Endocrine System)

PINK1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PINK1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.389171

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7

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

Pathway & Disease-focused RT² Profiler PCR Arrays including PINK1:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for PINK1 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Pink1^{1 , 5}	PTEN induced putative kinase 1^{1, 5}	81.98(n)¹ 81.69(a)¹	4 (70.14 cM)⁵ 68943¹ NM_026880.2¹ NP_081156.2¹ 138313409⁵
chicken (Gallus gallus)	Aves	PINK1¹	PTEN induced putative kinase 1	66.08(n) 64.05(a)	425370 XM_423139.4 XP_423139.3
zebrafish (Danio rerio)	Actinopterygii	pink1¹	PTEN induced putative kinase 1	58.32(n) 57.48(a)	494085 NM_001008628.1 NP_001008628.1
fruit fly (Drosophila melanogaster)	Insecta	CG4523³	protein kinase	43(a)	6C6 --
worm (Caenorhabditis elegans)	Secernentea	EEED8.9³ pink-1¹	pink-1¹	31(a)³ 43.7(n)¹ 35.5(a)¹	II(5393440-5395652)³ 173918¹ NM_062616.4¹ NP_495017.1¹

ENSEMBL Gene Tree for PINK1 (if available)
TreeFam Gene Tree for PINK1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_018994⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_018994	2	G D	mis⁴		0	--	--	--	--
VAR_046575⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046575	2	A P	mis⁴		0	--	--	--	--
VAR_046577⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046577	2	P L	mis⁴		0	--	--	--	--
VAR_046578⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046578	2	A D	mis⁴		0	--	--	--	--
VAR_046596⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046596	2	C R	mis⁴		0	--	--	--	--
VAR_046581⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046581	2	E K	mis⁴		0	--	--	--	--
VAR_046599⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046599	2	E G	mis⁴		0	--	--	--	--
VAR_046589⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046589	2	T M	mis⁴		0	--	--	--	--
VAR_046584⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046584	2	L V	mis⁴		0	--	--	--	--
VAR_062775⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_062775	2	L P	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for PINK1 (20959948 - 20978004 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for PINK1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv834369	CNV	Loss	17160897
nsv870827	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): PINK1
Locus Specific Mutation Databases (LSDB): PINK1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608309
OMIM disorders: 605909
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7

Parkinson disease 6 (PARK6) [MIM:605909]: A neurodegenerative disorder characterized by parkinsonian

signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms

including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal

fluctuation and can improve after sleep. Note=The disease is caused by mutations affecting the gene represented

in this entry

16 diseases for PINK1: About MalaCards

parkinson disease 6, early onset pink1 type of young-onset parkinson disease parkinson disease 10 parkinson disease 1

parkinson's disease tremor multiple system atrophy alzheimer's disease

dementia multiple sclerosis schizophrenia neuronitis

breast cancer multiple myeloma myeloma prostatitis

1 disease from the University of Copenhagen DISEASES database for PINK1:

Parkinson's disease

PINK1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

9 Novoseek inferred disease relationships for PINK1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
autosomal recessive parkinsonism	94.7	15	11462174 (1), 15955954 (1), 17989306 (1), 17914725 (1) (see all 12)
parkinson disease	89.5	151	15596610 (5), 17499497 (4), 16702191 (3), 15349859 (3) (see all 84)
parkinsonism	86.3	95	19087301 (4), 17713119 (4), 18546294 (3), 15349860 (3) (see all 51)
neurodegenerative diseases	73.3	1	16702191 (1)
movement disorders	71.9	2	16769864 (1), 18704525 (1)
neurodegeneration	63.6	14	17579517 (1), 19631006 (1), 19780893 (1), 20012177 (1) (see all 8)
muscle degeneration	51.2	4	16672981 (1), 16701203 (1), 18230723 (1)
sterility male	41.7	6	16672981 (2), 16701203 (1), 20457924 (1)
alzheimers disease	4.84	1	16702191 (1)

GeneTests: PINK1
GeneReviews: PINK1
Genetic Association Database (GAD): PINK1
Human Genome Epidemiology (HuGE) Navigator: PINK1 (54 documents)

Export disorders for PINK1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PINK1 gene, integrated from 10 sources (see all 341):
(articles sorted by number of sources associating them with PINK1)

Utopia: connect your pdf to the dynamic
world of online information

PINK1 mutations are associated with sporadic early-onset parkinsonism. (PubMed id 15349860)^{1, 2, 3, 4, 9} Valente E.M.... Bentivoglio A.R. (Ann. Neurol. 2004)
PINK1, Parkin, and DJ-1 mutations in Italian patients with early- onset parkinsonism. (PubMed id 15970950)^{1, 2, 4, 9} Klein C.... Pramstaller P.P. (Eur. J. Hum. Genet. 2005)
PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)^{1, 2, 4, 9} Healy D.G.... Lynch T. (Neurology 2004)
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (PubMed id 15596610)^{1, 2, 4, 9} Rogaeva E.... Singleton A.B. (Arch. Neurol. 2004)
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)^{1, 2, 4} Marongiu R.... Valente E.M. (Hum. Mutat. 2008)
PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)^{1, 2, 4} Tan E.-K.... Tan L. (Mov. Disord. 2006)
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. (PubMed id 16257123)^{1, 2, 4} Fung H.-C....Wu Y.-R. (Neurosci. Lett. 2006)
A heterozygous effect for PINK1 mutations in Parkinson's disease? (PubMed id 16969854)^{1, 2, 4} Abou-Sleiman P.M.... Wood N.W. (Ann. Neurol. 2006)
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)^{1, 2, 4} Bonifati V.... Oostra B.A. (Neurology 2005)
Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. (PubMed id 11494141)^{1, 2, 3} Unoki M. and Nakamura Y. (Oncogene 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 65018	HGNC: 14581	AceView: PINK1	Ensembl:ENSG00000158828	euGenes: HUgn65018
ECgene: PINK1	Kegg: 65018	H-InvDB: PINK1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PINK1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PINK1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PINK1[genesymbol]

Intellectual Property for PINK1 gene
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Patent Information for PINK1 gene:
Search GeneIP for patents involving PINK1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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PTEN Induced Putative Kinase 1

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PTEN Induced Putative Kinase 1

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