PINK1 Gene

Aliases
for PINK1 gene

(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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Previous GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206

Summaries
for PINK1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 at NCBI GenBank:

NC_000001.10  NC_018912.2  NT_032977.10  

Browse SwitchGear Promoter luciferase reporter plasmids

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

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


GeneLoc information about chromosome 1         GeneLoc Exon Structure

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

Proteins
for PINK1 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7

Explore proteomics data for PINK1 at MOPED

Post-translational modifications: 

PINK1 Human Recombinant Protein Products:

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	Search GeneTex for Proteins for PINK1
	antibodies-online proteins for PINK1 (8 products)
	antibodies-online peptides for PINK1

PINK1 Antibody Products:

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	antibodies-online antibodies for PINK1 (107 products)

PINK1 Assay Products:

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	Cloud-Clone Corp. ELISAs for PINK1 Cloud-Clone Corp. CLIAs for PINK1
	Search eBioscience for ELISAs for PINK1
	antibodies-online kits for PINK1 (2 products)

Domains /
Families
for PINK1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9BXM7

Find genes that share domains with PINK1           About GenesLikeMe

Function
for PINK1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Enzyme Number (IUBMB): EC 2.7.11.1¹

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

(inferred from 9 alleles) (MGI details for Pink1)

genOway: Develop your customized and physiologically relevant rodent model 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
		Addgene plasmids for 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

Localization
for PINK1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	5
mitochondrion	5

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

Pathways & Interactions
for PINK1 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for PINK1 About     See pathways by source

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	SuperPath	Contained pathways About
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	Parkinson's disease 0.57
2	CDK-mediated phosphorylation and removal of Cdc6	Parkinson's Disease Pathway 0.31
3	Parkinsons Disease Pathway	Parkinsons Disease Pathway
4	Neuroscience	Neuroscience

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

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

Drugs & Compounds
for PINK1 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for PINK1 gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for PINK1 gene

(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 GenesLikeMe, 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGGCCTGGGC

About this image

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)

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

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

Orthologs
for PINK1 gene

(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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Paralogs
for PINK1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Genomic Variants
for PINK1 gene

(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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Selected SNPs for PINK1 (see all 714)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PINK1

DNA2.0 Custom Variant and Variant Library Synthesis for PINK1

Disorders / Diseases
for PINK1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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

4 diseases for PINK1:    
About MalaCards

9 Novoseek inferred disease relationships for PINK1 gene    About this table

Publications
for PINK1 gene

(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

1. 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)
2. 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)
3. PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)^{1, 2, 4, 9} Healy D.G.... Lynch T. (Neurology 2004)
4. 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)
5. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)^{1, 2, 4} Marongiu R.... Valente E.M. (Hum. Mutat. 2008)
6. PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)^{1, 2, 4} Tan E.-K.... Tan L. (Mov. Disord. 2006)
7. 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)
8. 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)
9. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)^{1, 2, 4} Bonifati V.... Oostra B.A. (Neurology 2005)
10. 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)

External Searches for PINK1 gene

Genome Databases showing PINK1 gene

Other Databases showing PINK1 gene

Specialized Databases showing PINK1 gene

Products
for PINK1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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