PARK7 (also called DJ-1 or Parkinsonism associated deglycase) is a pleiotropic protein belonging to the peptidase C56 family. It acts as positive regulator of androgen receptor-dependent transcription, redox-sensitive chaperone, sensor for oxidative stress, and apparently protects neurons against oxidative stress and cell death. Dysfunctions in PARK7 are related to autosomal recessive early-onset Parkinson disease 7 and cancer forms. Here, we review some major data on PARK7, concerning the genetic structure, the transcription regulation, the encoded protein and functions, and its implication in human diseases.
#
Name
Ensembl Transcript ID
bp
Biotype
Protein
1
PARK7-004
ENST00000493373
624
Protein coding
189aa
2
PARK7-002
ENST00000338639
949
3
PARK7-007
ENST00000460192
567
Processed transcript
No protein
4
PARK7-001
ENST00000493678
1088
5
PARK7-003
ENST00000377493
795
169aa
6
PARK7-008
ENST00000465354
No rotein
7
PARK7-005
ENST00000377491
977
8
PARK7-006
ENST00000377488
783
9
PARK7-009
ENST00000497113
670
10
PARK7-010
ENST00000469225
711
160aa
NCBI: 11315 MIM: 602533 HGNC: 16369 Ensembl: ENSG00000116288
dbSNP: 11315 ClinVar: 11315 TCGA: ENSG00000116288 COSMIC: PARK7
Valentina La Cognata ; Sebastiano Cavallaro
PARK7 (Parkinsonism associated deglycase)
Atlas Genet Cytogenet Oncol Haematol. 2016-04-01
Online version: http://atlasgeneticsoncology.org/gene/41639/favicon/tumors-explorer/gene-fusions-explorer/