PARK7 Parkinsonism associated deglycase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARK7provided by HGNC
Official Full Name: Parkinsonism associated deglycaseprovided by HGNC
Primary source: HGNC:HGNC:16369
See related: Ensembl:ENSG00000116288 MIM:602533; AllianceGenome:HGNC:16369
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DJ1; DJ-1; GATD2; HEL-S-67p
Summary: The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 125.5), thyroid (RPKM 111.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (7961711..7985505)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (7492675..7516444)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (8021771..8045565)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Uncovering potential diagnostic and pathophysiological roles of alpha-synuclein and DJ-1 in melanoma.
Title: Uncovering potential diagnostic and pathophysiological roles of α-synuclein and DJ-1 in melanoma.
DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
Title: DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of Mitochondrial Function in Cypermethrin-Induced Parkinsonism.
Title: A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of Mitochondrial Function in Cypermethrin-Induced Parkinsonism.
DJ-1: A Potential Biomarker Related to Prognosis, Chemoresistance, and Expression of Microenvironmental Chemokine in HR-Positive Breast Cancer.
Title: DJ-1: A Potential Biomarker Related to Prognosis, Chemoresistance, and Expression of Microenvironmental Chemokine in HR-Positive Breast Cancer.
TrkB inhibition of DJ-1 degradation promotes the growth and maintenance of cancer stem cell characteristics in hepatocellular carcinoma.
Title: TrkB inhibition of DJ-1 degradation promotes the growth and maintenance of cancer stem cell characteristics in hepatocellular carcinoma.
WTAP-mediated m6A modification on circCMTM3 inhibits hepatocellular carcinoma ferroptosis by recruiting IGF2BP1 to increase PARK7 stability.
Title: WTAP-mediated m6A modification on circCMTM3 inhibits hepatocellular carcinoma ferroptosis by recruiting IGF2BP1 to increase PARK7 stability.
Disease-Modifying Effects of Vincamine Supplementation in Drosophila and Human Cell Models of Parkinson's Disease Based on DJ-1 Deficiency.
Title: Disease-Modifying Effects of Vincamine Supplementation in Drosophila and Human Cell Models of Parkinson's Disease Based on DJ-1 Deficiency.
PARK7/DJ-1 in microglia: implications in Parkinson's disease and relevance as a therapeutic target.
Title: PARK7/DJ-1 in microglia: implications in Parkinson's disease and relevance as a therapeutic target.
Kinetic evidence in favor of glyoxalase III and against deglycase activity of DJ-1.
Title: Kinetic evidence in favor of glyoxalase III and against deglycase activity of DJ-1.
Parkinsonism-Associated Protein DJ-1 Is an Antagonist, Not an Eraser, for Protein Glycation.
Title: Parkinsonism-Associated Protein DJ-1 Is an Antagonist, Not an Eraser, for Protein Glycation.

Submit: New GeneRIF Correction See all GeneRIFs (390)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive early-onset Parkinson disease 7 MedGen: C1853445 OMIM: 606324 GeneReviews: Parkinson Disease Overview	not available

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of parkinson protein 7 (PARK7; DJ1) in Jurkat cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables L-dopa decarboxylase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables core promoter sequence-specific DNA binding	IC Inferred by Curator more info	PubMed
enables cupric ion binding	IDA Inferred from Direct Assay more info	PubMed
enables cuprous ion binding	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme activator activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables glyoxalase (glycolic acid-forming) activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mercury ion binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear androgen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables oxidoreductase activity, acting on peroxide as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on peroxide as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables oxygen sensor activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables peroxiredoxin activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables protein deglycase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein deglycase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein deglycase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activator activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables small protein activating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide dismutase copper chaperone activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IGI Inferred from Genetic Interaction more info	PubMed
enables transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
enables tyrosine 3-monooxygenase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-like protein conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in Ras protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in androgen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular detoxification of aldehyde	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular detoxification of methylglyoxal	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glyoxal	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in detoxification of copper ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detoxification of hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in detoxification of mercury ion	IEA Inferred from Electronic Annotation more info
involved_in dopamine uptake involved in synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycolate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glyoxal catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glyoxal metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glyoxal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in guanine deglycation	IDA Inferred from Direct Assay more info	PubMed
involved_in guanine deglycation, glyoxal removal	IDA Inferred from Direct Assay more info	PubMed
involved_in guanine deglycation, methylglyoxal removal	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen peroxide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in lactate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in membrane hyperpolarization	IEA Inferred from Electronic Annotation more info
involved_in methylglyoxal catabolic process to lactate	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in methylglyoxal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in methylglyoxal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of TRAIL-activated apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of death-inducing signaling complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein export from nucleus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of protein phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of positive regulation of L-dopa biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of acute inflammatory response to antigenic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of autophagy of mitochondrion	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of dopamine biosynthetic process	IC Inferred by Curator more info	PubMed
involved_in positive regulation of dopamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	TAS Traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IC Inferred by Curator more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein repair	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of TRAIL production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of androgen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of supramolecular fiber organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in removal of superoxide radicals	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	HDA more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Parkinson disease protein 7

Names: Parkinson disease (autosomal recessive, early onset) 7; epididymis secretory sperm binding protein Li 67p; maillard deglycase; oncogene DJ1; parkinson protein 7; protein DJ-1; protein deglycase DJ-1; protein/nucleic acid deglycase DJ-1

NP_001116849.1

EC 3.5.1.124

NP_009193.2

EC 3.5.1.124

XP_005263481.1

EC 3.5.1.124

XP_054190021.1

EC 3.5.1.124

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008271.1 RefSeqGene

Range

5058..28852

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001123377.2 → NP_001116849.1 Parkinson disease protein 7

See identical proteins and their annotated locations for NP_001116849.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the shorter transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK312000, AL034417, D61380

Consensus CDS

CCDS93.1

UniProtKB/Swiss-Prot

B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497

UniProtKB/TrEMBL

V9HWC2

Related

ENSP00000418770.1, ENST00000493678.5

Conserved Domains (1) summary

TIGR01383
Location:5 → 184

not_thiJ; DJ-1 family protein
NM_007262.5 → NP_009193.2 Parkinson disease protein 7

See identical proteins and their annotated locations for NP_009193.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK312000, AL034417, BC008188, BP248330, D61380

Consensus CDS

CCDS93.1

UniProtKB/Swiss-Prot

B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497

UniProtKB/TrEMBL

V9HWC2

Related

ENSP00000340278.5, ENST00000338639.10

Conserved Domains (1) summary

TIGR01383
Location:5 → 184

not_thiJ; DJ-1 family protein