PINK1 Gene
protein-coding GIFtS: 66
GCID: GC01P020959
|
|
PTEN induced putative kinase 1(Previous name: Parkinson disease (autosomal recessive) 6 )
(Previous symbol: PARK6)
| |
Aliases
for PINK1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
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 |
Export aliases for PINK1 gene to outside databasesPrevious GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206 |
Summaries
for PINK1 gene(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:
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells fromstress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onsetParkinson disease. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylatingmitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It isnecessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation
Gene Wiki entry for PINK1
|
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 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
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: 1p36.12PINK1 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)
Start:
|
20,959,948 bp from pter |
End:
|
20,978,004 bp from pter |
Size:
|
18,057 bases |
Orientation:
|
plus strand |
|
Proteins
for PINK1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q96DE4Alternative splicing: 2 isoforms: Q9BXM7-1 Q9BXM7-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7
Post-translational modifications:
Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BXM7
PINK1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115785.1
ENSEMBL proteins: ENSP00000364204
Human Recombinant Protein Products for PINK1:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
PINK1 for ontologies About GeneDecksing
PINK1 Antibody Products:
Assay Products for PINK1: |
Protein
Domains /
Families
for PINK1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PINK1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BXM7ProtoNet protein and cluster: Q9BXM7 UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase familySimilarity: Contains 1 protein kinase domain |
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,
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 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PINK1_HUMAN, Q9BXM7Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylatingmitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It isnecessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradationCatalytic activity: ATP + a protein = ADP + a phosphoprotein Enzyme Number (IUBMB): EC 2.7.11.11
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
PINK1 for ontologies About GeneDecksing
Phenotypes:
6 GenomeRNAi human phenotypes for PINK1:
9 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Pink1):
PINK1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for PINK1: Pink1tm1Zhzh Pink1tm1Vbae Pink1tm1Hlw Pink1tm1Shn Pink1tm1.1Wrst Pink1tm1Hbu
Pink1tm1Ncw
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 2)
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 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1 |
|
Pathways & Interactions
for PINK1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | Parkinsons Disease Pathway | | | 3 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 4 | Ubiquitinated Orc1 is degraded by the proteasome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PINK1
1 
Cell Signaling Technology (CST) Pathway for PINK1
1  BioSystems Pathway for PINK1
1 
Kegg Pathway (Kegg details for PINK1):
PINK1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM 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 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table
PINK1 for ontologies About GeneDecksing
|
Drugs & Compounds
for PINK1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PINK1 for compounds About GeneDecksing
 Browse Tocris compounds for PINK1
3 HMDB Compounds for PINK1 About this table
6 Novoseek 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
|
Transcripts
for PINK1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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: AB0533233 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 2)
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 |
Additional cDNA 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.100824911 DT.100824917 DT.40191712 DT.86836539 DT.95148814 DT.95148815 DT.80100175 DT.86853366 368 AceView cDNA sequences (see top 24): AI536608 AA879128 AW163235 CD679228 CB122562 BE615427 AI424391 BF448942 CB153545 CB215266 BE531293 CD556731 AW167936 CR601045 CF131513 AA551902 Z28931 BF196557 BQ672284 BG055986 BQ888270 BU751789 BM352779 AL042585 CD558848 CR597726 AA304888 N75032 AJ709870 CB118069 AA629236 BU625739 BU741852 BU731213 BQ639222 CK005665 AL047113 AI095948 AL703800 AI139125 CD251466 AA412184 BU196180 BV206148 AA350696 BE892523 BG818239 BX365245 AA746653 BQ719945 F36249 AL536329 CA748493 BU540842 BG576548 BX428145 BM352461 BG742174 BX423086 BG724163 BQ946181 AK130746 F36618 AI276400 BQ446916 BX419725 AA310219 BC028215 AI926980 AA487375 BM672312 AA889690 BE551215 AA679015 AW195963 CF456059 AK075225 AL536672 BU933183 BG701901 BX108848 AL566431 BQ695305 BM989539 AW087105 BE855607 F24228 BG286617 BF790080 AL539304 W57970 CA445882 BM980430 CD367969 AA047065 AI831763 NM_032409 BI549803 AW072808 BQ671340 BU620256 BX379881 BG254661 AW276215 AA321338 BF508598 AI659890 BG743140 CD172283 AL529469 AI263075 BI333286 R20725 BG323914 AW050764 Z41016 BF448747 BM670356 BG421906 T33095 BX337800 CB306388 AA775785 AL514318 BG707757 CB957008 BU688765 BI550404 BF221700 BQ668581 BI463350 AI335794 BG769071 AW302576 BM826082 CA438430 BG251046 AW166840 BG819736 AL574789 BG536348 BG818432 CD366613 T16543 BM721426 BQ220049 BQ009945 BQ002157 AA971541 BM694692 CF552838 BX381614 BQ029290 BG037122 BX419443 BU633336 F26938 CD633944 BE784243 AI799950 BE855587 BE542802 AW954595 BF939341 AI023030 AA889524 BQ675156 H05724 AV683196 AB053323 BU735067 BQ720889 BC009534 BM055044 BG469917 AA399022 CN481736 BG741328 BM906536 BM712069 BM696442 AA641335 CD107310 BQ711470 BU618719 BG740627 BQ067984 BI911729 BM055323 BQ673642 BG681388 CA309439 BF980231 AI680230 AI435233 CF126957 CD300239 BG720369 CF132446 BG717166 AA548095 AI031875 AF316873 AA985622 BI546524 AI760635 BG482482 AA633701 CD368536 AL539778 BE504941 N27679 BF339895 BG717981 BQ005586 AL520234 AW157232 AL563450 AI942273 BG327518 BG993607 BF432478 AW339323 BQ675060 AI122543 BE669820 BX335693 AI743848 BX424818 AJ346680 BG250369 AI865828 W93260 BF435569 BF477412 AA780630 AA417189 BG899509 AI565719 BI463463 AW072944 C02881 BX461139 AW272088 AA551249 CK024147 BM700977 AA350695 AJ346800 CD675722 AI815541 BG023743 AW579873 AA349748 BE857093 AA634825 AI928017 BP429618 AI127825 T60610 AW206559 BG723515 T03570 W57943 W93259 CB157630 AI097316 BM686863 AI127815 BM922581 BI461703 AA678132 AI816481 BU077423 F34216 F28985 BX365244 BI553166 BG764494 BM926761 CN484387 AL567774 AL575112 BM729334 F07946 AI654066 CA312853 BX338944 BG563751 F21936 AA047066 BG335222 AA707546 AA026534 CA312630 BX335692 BE156560 BX392878 AL551136 AI078710 AW235628 BF590006 BF819333 BE539390 BM697730 BI908530 T36182 AL575088 W37966 BG013305 AL539779 BF807175 R35339 F27483 CD633940 F31833 AA487258 AA248211 T35599 CD633942 AX747934 BI459968 R49219 BE156571 T15613 BF927372 BI603967 T16953 BF508621 F27161 BG222901 BF352372 AL520235 T98274 AK093117 AW015944 BI765601 BI824327 AA302209 AL536328 BG027367 BF769022 BI496694 CD685607 CD633946 BM719671 W05632 T60454 H05721 BE178119 N20842 CD723935 BE874486 CD514206 CK003907 CA450357 CD105931 AW954587 BQ336236 BX455296 R12813 H05723 W69777 R50834 T98513 AW954100 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
|
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 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCCTGGGC
About this image
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, Q9BXM7Tissue 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 ofdevelopment
SABiosciences Expression via Pathway-Focused PCR Arrays including PINK1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PINK1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PINK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PINK1 | | | QIAGEN 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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PINK1 gene from 5/18 species (see all 18) About this table
ENSEMBL Gene Tree for PINK1 (if available)
TreeFam Gene Tree for PINK1 (if available) |
Paralogs
for PINK1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for PINK1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| 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 |
|---|
HapMap Linkage Disequilibrium report for PINK1 (20959948 - 20978004 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PINK1: --
Human Gene Mutation Database (HGMD): PINK1
Locus Specific Mutation Databases (LSDB): PINK1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing 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.)
About This Section
|
PINK1 for disorders About GeneDecksing
OMIM gene information: 608309
OMIM disorders: 605909
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
Defects in PINK1 are the cause of Parkinson disease type 6 (PARK6) [MIM:605909]. A neurodegenerative disordercharacterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifestadditional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptomsshow diurnal fluctuation and can improve after sleep
14  diseases for PINK1: About MalaCardsparkinson's disease parkinson disease 6, early onset parkinson disease 10 neurodegenerative disease
adrenocortical tumor tremor alzheimer's disease neurodegeneration
multiple sclerosis dementia breast cancer schizophrenia
prostatitis neuronitis
1 disease from the University of Copenhagen DISEASES database for PINK1:Parkinson's disease 9 Novoseek 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
|
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)
About This Section
|
PubMed articles for PINK1 gene, integrated from 9 sources (see all 312):
(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)
- 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)
- 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)
- Association of PINK1 and DJ-1 confers digenic inheritance of early- onset Parkinson's disease. (PubMed id 16632486)1, 2, 9 Tang B.... Zhang Z. (2006)
- Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations. (PubMed id 16354302)1, 4, 9 Schlitter A.M....Dekomien G. (2005)
- PINK1 stabilized by mitochondrial depolarization recr uits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. (PubMed id 20404107)1, 2, 9 Matsuda N....Tanaka K. (2010)
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External Searches for PINK1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PINK1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PINK1 gene
(According to HUGE)
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Specialized Databases showing PINK1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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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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Products
for PINK1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | OriGene Antibodies for PINK1 | | OriGene shRNA RFP for PINK1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PINK1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PINK1 | | | OriGene Protein Over-expression Lysate for PINK1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PINK1 | | OriGene 3'-UTR Clone for PINK1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PINK1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PINK1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PINK1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PINK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PINK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PINK1 |
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| | | | Search Tocris compounds for PINK1 |
| |  |  |  |  | | | | | | Recombinant Protein for PINK1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1 |
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