Q9BXM7

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession PINK1_HUMAN; Q9BXM7;
Entrez ID 65018
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Serine/threonine-protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN-induced putative kinase protein 1)
Gene Name PINK1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionProtects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN (PubMed:14607334, PubMed:15087508, PubMed:19229105, PubMed:19966284, PubMed:20404107, PubMed:20798600, PubMed:23620051, PubMed:23754282, PubMed:23933751, PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:24896179, PubMed:25527291). Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2 (PubMed:23620051). Activates PRKN in 2 steps: (1) by mediating phosphorylation at 'Ser-65' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Required for ubiquinone reduction by mitochondrial complex I by mediating phosphorylation of complex I subunit NDUFA10 (By similarity).
Sequence
(Fasta)
MAVRQALGRG LQLGRALLLR FTGKPGRAYG LGRPGPAAGC VRGERPGWAA GPGAEPRRVG 60
LGLPNRLRFF RQSVAGLAAR LQRQFVVRAW GCAGPCGRAV FLAFGLGLGL IEEKQAESRR 120
AVSACQEIQA IFTQKSKPGP DPLDTRRLQG FRLEEYLIGQ SIGKGCSAAV YEATMPTLPQ 180
NLEVTKSTGL LPGRGPGTSA PGEGQERAPG APAFPLAIKM MWNISAGSSS EAILNTMSQE 240
LVPASRVALA GEYGAVTYRK SKRGPKQLAP HPNIIRVLRA FTSSVPLLPG ALVDYPDVLP 300
SRLHPEGLGH GRTLFLVMKN YPCTLRQYLC VNTPSPRLAA MMLLQLLEGV DHLVQQGIAH 360
RDLKSDNILV ELDPDGCPWL VIADFGCCLA DESIGLQLPF SSWYVDRGGN GCLMAPEVST 420
ARPGPRAVID YSKADAWAVG AIAYEIFGLV NPFYGQGKAH LESRSYQEAQ LPALPESVPP 480
DVRQLVRALL QREASKRPSA RVAANVLHLS LWGEHILALK NLKLDKMVGW LLQQSAATLL 540
ANRLTEKCCV ETKMKMLFLA NLECETLCQA ALLLCSWRAA L 582

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1UbiquitinationParkinson's diseaseU24383081
[Reference]: a member of the BAG family, which directly binds with and stabilises PINK1 by decreasing its ubiquitination. Moreover, we found that BAG2 also binds with the pathogenic R492X PINK1 mutation directly and more tightly. Moreover, BAG2 stabilises the R492X PINK1 mutation by decreasing its ubiquitination to a greater extent than the wild-type species.
2Lysine MethylationParkinson's diseasePK2723959866; 3767515
[Reference]: Our findings unveil a pathway by which PINK1 regulates histone methylation and gene expression through the polycomb repressor complex.
3Threonine PhosphorylationParkinson's diseaseNT31322238344
[Reference]: Thr-313 was the primary phosphorylation site, a residue mutated to a non-phosphorylatable form (T313M) in a frequent variant of PD
4UbiquitinationParkinson's diseaseNC43123751051
[Reference]: These results underscore the relevance of the PINK1/Parkin-mediated mitochondrial quality control pathway in primary neurons and shed further light on the underlying mechanisms of the PINK1 and Parkin pathogenic mutations that predispose Parkinsonism in vivo.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 5)
MESH:D009410 ; Nerve Degeneration
MESH:D009447 ; Neuroblastoma
MESH:D010300 ; Parkinson Disease
MESH:C565276 ; Parkinson Disease 6, Autosomal Recessive Early-Onset
MESH:D020734 ; Parkinsonian Disorders
HGMD
(count: 79)
(view all)
CD061455; Parkinson disease, early-onset; Small deletions
CD083339; Parkinson disease, autosomal recessive; Small deletions
CD083340; Parkinson disease, early-onset; Small deletions
CD061456; Parkinson disease, early-onset; Small deletions
CG052747; Parkinson disease, early-onset; Gross deletions
CG092706; Parkinson disease, early-onset; Gross deletions
GWASdb
(count: 4)
rs3820321; Type 2 diabetes; type 2 diabetes mellitus
rs2298298; Personality dimensions; personality disorder
rs3102071; Personality dimensions; personality disorder
rs2298299; Acute lung injury; lung disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 4)
228       MWNISAGSSSEAILN     dbPAF
257       AGEYGAVTYRKSKRG     dbPAF
313       EGLGHGRTLFLVMKN     dbPAF
402       GLQLPFSSWYVDRGG     dbPAF
Ubiquitination
(count: 3)
186       PQNLEVTKSTGLLPG     PLMD
24        LLLRFTGKPGRAYGL     PLMD
319       RTLFLVMKNYPCTLR     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource