Hs02687635_cn

• Gene Symbol: PINK1
• Assay Reference Genome Location: Chr.1:20645647 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 65018
• Gene Name: PTEN induced putative kinase 1
• Gene Aliases: BRPK, PARK6
• Location: Chr.1:20633455-20651511 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PINK1	NM_032409.2	5	1141	NP_115785.1
	AB053323.1	5	1141	BAB55647.1
	AF316873.1	5	1117	AAK28062.1
	AK075225.1	1	140	BAC11484.1
	AK130746.1	3	1244
	BC009534.1	2	214	AAH09534.1
	BC028215.1	5	1056	AAH28215.1

Target Gene Details

• Entrez Gene ID: 100861548
• Gene Name: PINK1 antisense RNA
• Gene Aliases: NAPINK1, PINK1-AS1, PINK1AS
• Location: Chr.1:20642657-20652193 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PINK1-AS	NR_046507.1
	AK090466.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv545731	Chr.1:19989106 - 20776306 on Build GRCh38	Gain	PLA2G2C CDA UBXN10 MUL1 PLA2G5 MIR6084 VWA5B1 KIF17 PLA2G2D PINK1 SH2D5 CAMK2N1 FAM43B HP1BP3 PINK1-AS LINC01141 UBXN10-AS1 PLA2G2F DDOST
nsv834369	Chr.1:20609770 - 20779837 on Build GRCh38	Loss	MIR6084 KIF17 PINK1 SH2D5 CDA HP1BP3 PINK1-AS DDOST

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

mitophagy
positive regulation of protein phosphorylation
regulation of oxidative phosphorylation
protein phosphorylation
ubiquitin-dependent protein catabolic process
response to stress
response to oxidative stress
mitochondrion organization
regulation of hydrogen peroxide metabolic process
negative regulation of gene expression
regulation of mitochondrion organization
positive regulation of peptidase activity
macroautophagy
positive regulation of macroautophagy
negative regulation of macroautophagy
phosphorylation
protein ubiquitination
peptidyl-serine phosphorylation
respiratory electron transport chain
regulation of protein ubiquitination
positive regulation of protein ubiquitination
activation of protein kinase B activity
positive regulation of synaptic transmission, dopaminergic
positive regulation of peptidyl-serine phosphorylation
positive regulation of dopamine secretion
cellular response to oxidative stress
positive regulation of protein dephosphorylation
intracellular signal transduction
peptidyl-serine autophosphorylation
TORC2 signaling
positive regulation of I-kappaB kinase/NF-kappaB signaling
regulation of protein complex assembly
negative regulation of neuron apoptotic process
positive regulation of translation
negative regulation of JNK cascade
protein stabilization
positive regulation of sequence-specific DNA binding transcription factor activity
positive regulation of ubiquitin-protein transferase activity
regulation of mitochondrial membrane potential
positive regulation of protein kinase B signaling
regulation of proteasomal protein catabolic process
cellular response to hypoxia
establishment of protein localization to mitochondrion
maintenance of protein location in mitochondrion
positive regulation of mitochondrial fission
positive regulation of release of cytochrome c from mitochondria
negative regulation of mitochondrial fission
cellular response to toxic substance
mitophagy in response to mitochondrial depolarization
regulation of synaptic vesicle transport
negative regulation of autophagosome assembly
positive regulation of mitochondrial electron transport, NADH to ubiquinone
regulation of mitophagy
negative regulation of mitophagy
negative regulation of oxidative stress-induced cell death
negative regulation of oxidative stress-induced neuron death
regulation of protein targeting to mitochondrion
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway
negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide
positive regulation of cristae formation
positive regulation of protein targeting to mitochondrion
positive regulation of free ubiquitin chain polymerization
regulation of reactive oxygen species metabolic process
negative regulation of reactive oxygen species metabolic process
positive regulation of ATP biosynthetic process

Function(s)

magnesium ion binding
protease binding
protein kinase activity
protein serine/threonine kinase activity
protein binding
ATP binding
calcium-dependent protein kinase activity
kinase activity
peptidase activator activity
ubiquitin protein ligase binding
protein kinase B binding
C3HC4-type RING finger domain binding