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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PINK1 Gene

protein-coding GIFtS: 68
GCID: GC01P020959

PTEN Induced Putative Kinase 1

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

Alzheimer's & Parkinson's Diseases Congress

12 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Electron Transport Chain and SCF(Skp2)-mediated degradation of p27/p21. 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). It is

necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.2 NT_004610.19

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for PINK1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol

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:

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

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9BXM7

PINK1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_115785.1

ENSEMBL proteins:

ENSP00000364204

Human Recombinant Protein Products for PINK1:

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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

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

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

PINK1 for ontologies About GeneDecksing

PINK1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PINK1
	R&D Systems Antibodies for PINK1
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	OriGene Antibodies for PINK1 OriGene Custom Antibody Services for PINK1
	GenScript Custom Superior Antibodies 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

Assay Products for PINK1:

	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)
About This Section

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_cat_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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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). It is

necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation

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

Enzyme Number (IUBMB): EC 2.7.11.1¹

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (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	homeostasis/metabolism
immune system	nervous system	no phenotypic analysis	taste/olfaction

PINK1 for phenotypes           About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for PINK1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PINK1

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PINK1
		2 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for PINK1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against PINK1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PINK1
			Sirion Biotech Customized adenovirus for overexpression of PINK1 Customized adenovirus for potent knockdown of PINK1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for PINK1 (see all 8) 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)
		Browse Sino Biological Human cDNA Clones
		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
		Search LifeMap BioReagents cell lines for PINK1
		Sirion Biotech Customized stable knockdown cell line services for PINK1 Customized inducible knockdown cell line services for PINK1 Customized stable overexpressing cell line services for PINK1 Customized inducible overexpressing cell line services for PINK1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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

0.61

CDK-mediated phosphorylation and removal of Cdc6

Parkinson's Disease Pathway

0.31

Neuroscience

Neuroscience

Parkinsons Disease Pathway

Parkinsons Disease Pathway

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN 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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PINK1

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/22 Interacting proteins for PINK1 (Q9BXM7^{1, 2, 3} ENSP00000364204⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

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	Q9GZQ8²^,³, ENSP00000268607⁴	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

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): 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:0007243	intracellular protein kinase cascade	IDA	14607334
GO:0008219	cell death	IEA	--

PINK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PINK1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about PINK1

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PINK1
		2 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for PINK1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against PINK1

Clone Products:		OriGene clones in human, mouse for PINK1 (see all 8) 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
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Primer Products:		OriGene qPCR primer pairs and template standards for PINK1 OriGene qSTAR qPCR primer pairs in human, mouse for PINK1
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PINK1
		QIAGEN 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):

N75032 AW167936 AW163235 CB215266 CR601045 BQ888270 CD558848 AL042585

AA629236 AI424391 BM352779 CF131513 BQ672284 AI536608 BF448942 BE531293

CD679228 CB122562 CR597726 AA879128 BU751789 CB153545 BF196557 BG055986

Z28931 BU625739 BE615427 CD556731 AA304888 AA551902 CB118069 AJ709870

AI435233 AW195963 AW954595 AI095948 AW087105 BX419725 BQ067984 AI023030

AA746653 CD251466 Z41016 CD300239 AI263075 BG740627 AA350696 BF980231

BV206148 BM672312 BM980430 BU731213 AB053323 W57970 BI550404 AK130746

BM696442 BG707757 BG576548 CD367969 BG286617 AA399022 BM826082 BG254661

BX381614 AL574789 BG701901 AW072808 BM712069 BG681388 BI911729 CF456059

BQ002157 BQ711470 AL703800 BU633336 BF508598 BG323914 AI659890 AI799950

BQ675156 BE551215 BQ009945 AL047113 AW166840 BQ720889 BG421906 AL536672

BU933183 AL514318 AW276215 AW050764 AA321338 NM_032409 BX379881 CB306388

AA487375 BQ220049 AL536329 BQ719945 BE892523 BM055323 CA438430 BE855587

BQ695305 AI680230 AL566431 CN481736 BU620256 BM694692 H05724 AL539304

BG819736 AA548095 BG251046 AI926980 AA679015 F36618 CD633944 BG742174

F36249 AA889524 BG724163 AA641335 AA047065 BG769071 CF552838 AI831763

BI549803 AW302576 AI031875 CF126957 BQ673642 BM721426 BG741328 AV683196

BF221700 BM352461 BI463350 BF939341 CD107310 BX108848 BE542802 BM670356

BU540842 BX423086 F26938 BM055044 AA775785 BG720369 AA889690 BG743140

BU735067 BQ029290 BG717166 R20725 BU688765 BF790080 BG536348 CA445882

BU196180 AA971541 BQ639222 BU618719 AA412184 AI276400 CF132446 T16543

BG469917 AK075225 CD366613 BG818239 AA310219 AA985622 CK005665 BU741852

BQ671340 AL529469 CD172283 CB957008 BE855607 F24228 BC028215 BC009534

CA748493 AI139125 AF316873 BF448747 BE784243 T33095 BI333286 BX337800

BQ446916 BG037122 CA309439 BX428145 BX365245 BM906536 AI335794 BQ668581

BX419443 BG818432 BQ946181 BM989539 BE857093 CB157630 CA312853 T60610

BM686863 CK024147 BQ675060 AI760635 AI097316 CN484387 BX424818 AA350695

AI815541 AI654066 BE669820 AL575112 AI942273 W93260 AL563450 AL520234

BF477412 BX338944 AW339323 BG327518 AI565719 AJ346800 BG899509 BE504941

BM926761 AA349748 AL539778 N27679 F07946 CD368536 BI553166 AA633701

AA634825 AI743848 AI816481 BF432478 BG250369 BG563751 AA780630 CD675722

BG482482 BX461139 BI546524 W93259 W57943 F28985 F34216 BF339895

BG723515 BM700977 AA678132 AA417189 BF435569 BG993607 AW272088 AL567774

AI865828 BG023743 T03570 C02881 BU077423 BM922581 AJ346680 AI928017

BP429618 AA551249 AW579873 AI127825 AW072944 AW157232 BQ005586 BG764494

BM729334 AI122543 BX335693 AI127815 BI463463 AW206559 BX365244 BI461703

BG717981 BF590006 AL575088 BE156560 F21936 BI908530 AI078710 AL551136

BG013305 AA047066 AW235628 AA026534 BF807175 BG335222 W37966 T36182

AA707546 AL539779 BX335692 BX392878 BF819333 CA312630 BM697730 BE539390

BI459968 BG027367 AL536328 R49219 BF352372 T35599 F27161 BF508621

AA248211 CD633940 BI765601 BI824327 T16953 AA487258 BF927372 AX747934

AA302209 F31833 R35339 BI603967 AK093117 BG222901 AL520235 T98274

F27483 BE156571 AW015944 T15613 CD633942 BI496694 W05632 BF769022

BE178119 H05721 T60454 BM719671 CD633946 CD685607 CD105931 CD723935

CA450357 CK003907 CD514206 N20842 AW954587 BE874486 W69777 BQ336236

H05723 R12813 BX455296 R50834 AW954100 T98513 BI054689 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

5/5 selected tissues (see all 5) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Medulla Oblongata
Dopaminergic-like neurons (Generation of dopaminergic neurons from human induced...
ganglion/cranial

Eye (Sensory Organs) fully expand to see all 2 entries
Retina

Neural Tube (Nervous System)
Metencephalon

Neural Ectoderm (Nervous System)
Dopaminergic-like neurons (Generation of dopaminergic neurons from human induced...

Spinal Cord (Nervous System)

See PINK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PINK1

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

SABiosciences Expression via Pathway-Focused 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PINK1 gene from 5/13 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_423139.3 XP_423139.3
zebrafish (Danio rerio)	Actinopterygii	pink1¹	PTEN induced putative kinase 1	58.45(n) 56.61(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	Protein PINK-1¹	31(a)³ 43.93(n)¹ 35.73(a)¹	II(5393440-5395652)³ 173918¹ NM_062616.3¹ 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)
About This Section

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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_046574⁴	Parkinson disease 6 (PARK6)⁴	--	see VAR_046574	2	R H	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.)
About This Section

PINK1 for disorders           About GeneDecksing

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

12 diseases for PINK1: About MalaCards

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

tremor alzheimer's disease dementia multiple sclerosis

schizophrenia neuronitis breast cancer prostatitis

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

Parkinson's disease

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

Parkinson Disease

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)
About This Section

PubMed articles for PINK1 gene, integrated from 9 sources (see all 326):
(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. (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. (2005)
PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)^{1, 2, 4, 9} Healy D.G.... Lynch T. (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. (2004)
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)^{1, 2, 4} Marongiu R.... Valente E.M. (2008)
PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)^{1, 2, 4} Tan E.-K.... Tan L. (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. (2006)
A heterozygous effect for PINK1 mutations in Parkinson's disease? (PubMed id 16969854)^{1, 2, 4} Abou-Sleiman P.M.... Wood N.W. (2006)
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)^{1, 2, 4} Bonifati V.... Oostra B.A. (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. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 65018	HGNC: 14581	AceView: PINK1	Ensembl:ENSG00000158828	euGenes: HUgn65018
ECgene: PINK1	Kegg: 65018	H-InvDB: PINK1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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/sites/GeneTests/lab/gene/PINK1

Intellectual Property for PINK1 gene
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Patent Information for PINK1 gene:
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GeneCards and IP:
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PTEN Induced Putative Kinase 1

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PTEN Induced Putative Kinase 1

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