Gene Symbol |
PARK7
|
Entrez Gene |
11315
|
Alt Symbol |
DJ-1, DJ1, HEL-S-67p
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
parkinson protein 7
|
Other Description |
Parkinson disease (autosomal recessive, early onset) 7|epididymis secretory sperm binding protein Li 67p|oncogene DJ1|protein DJ-1|protein deglycase DJ-1
|
Swissprots |
Q7LFU2 B2R4Z1 Q99497 Q6DR95 O14805
|
Accessions |
AAT68961 EAW71591 Q99497 AB073864 BAB71782 AF021819 AAC12806 AK091679 AK130886 AK312000 BAG34938 BC008188 AAH08188 BP248330 D61380 BAA09603 EU794641 ACJ13695 HQ447919 ADQ32403 XM_005263424 XP_005263481 NM_001123377 NP_001116849 NM_007262 NP_009193
|
Function |
Protein deglycase that repairs methylglyoxal- and glyoxal-glycated amino acids and proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteines, arginines and lysines residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) (PubMed:25416785). Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease; functions probably related to its primary function (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for
|
Subcellular Location |
Cell membrane {ECO:0000250|UniProtKB:O88767}; Lipid-anchor {ECO:0000250|UniProtKB:O88767}. Cytoplasm {ECO:0000269|PubMed:12851414, ECO:0000269|PubMed:14579415, ECO:0000269|PubMed:15976810, ECO:0000269|PubMed:19229105}. Nucleus {ECO:0000269|PubMed:12851414, ECO:0000269|PubMed:14579415, ECO:0000269|PubMed:15976810}. Membrane raft {ECO:0000250|UniProtKB:O88767}. Mitochondrion {ECO:0000269|PubMed:15181200, ECO:0000269|PubMed:18711745, ECO:0000269|PubMed:19229105}. Note=Under normal conditions, located predominantly in the cytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion and subsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect against oxidative damage (PubMed:18711745). Detected in tau inclusions in brains from neurodegenerative disease patients (PubMed:14705119). Membrane raft localization in astrocytes and neuronal cells requires palmitoylation. {ECO:0000269|PubMed:14705119, ECO:0000
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Tissue Specificity |
Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at slightly lower levels in placenta and brain (at protein level). Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozoa. {ECO:0000269|PubMed:14579415, ECO:0000269|PubMed:14662519, ECO:0000269|PubMed:14705119, ECO:0000269|PubMed:9070310}.
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