Park7 Parkinson disease (autosomal recessive, early onset) 7 [ Mus musculus (house mouse) ]

Gene ID: 57320, updated on 21-Apr-2024

Summary

Official Symbol: Park7provided by MGI
Official Full Name: Parkinson disease (autosomal recessive, early onset) 7provided by MGI
Primary source: MGI:MGI:2135637
See related: Ensembl:ENSMUSG00000028964 AllianceGenome:MGI:2135637
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dj1; DJ-1
Summary: Enables oxygen sensor activity and peroxiredoxin activity. Involved in several processes, including detoxification of inorganic compound; negative regulation of intrinsic apoptotic signaling pathway; and negative regulation of protein metabolic process. Acts upstream of or within several processes, including dopamine uptake involved in synaptic transmission; membrane hyperpolarization; and positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway. Located in several cellular components, including cell body; endoplasmic reticulum; and mitochondrion. Is expressed in central nervous system and retina. Used to study Parkinson's disease 7. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 7; Parkinsonism; cerebral infarction; and middle cerebral artery infarction. Orthologous to human PARK7 (Parkinsonism associated deglycase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 117.4), CNS E11.5 (RPKM 109.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 81.52 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (150981590..150994378, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (150897133..150909921, complement)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircDCBLD2 alleviates liver fibrosis by regulating ferroptosis via facilitating STUB1-mediated PARK7 ubiquitination degradation.
Title: CircDCBLD2 alleviates liver fibrosis by regulating ferroptosis via facilitating STUB1-mediated PARK7 ubiquitination degradation.
DJ1 Ameliorates AD-like Pathology in the Hippocampus of APP/PS1 Mice.
Title: DJ1 Ameliorates AD-like Pathology in the Hippocampus of APP/PS1 Mice.
Park7 protects retinal ganglion cells and promotes functional preservation after optic nerve crush via regulation of the Nrf2 signaling pathway.
Title: Park7 protects retinal ganglion cells and promotes functional preservation after optic nerve crush via regulation of the Nrf2 signaling pathway.
Growth of B16F10 cells is enhanced in DJ-1-deficiency pancreas.
Title: Growth of B16F10 cells is enhanced in DJ-1-deficiency pancreas.
Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in dendrites in tuberous sclerosis complex and Alzheimer's disease.
Title: Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in dendrites in tuberous sclerosis complex and Alzheimer's disease.
Loss of DJ-1 function contributes to Parkinson's disease pathogenesis in mice via RACK1-mediated PKC activation and MAO-B upregulation.
Title: Loss of DJ-1 function contributes to Parkinson's disease pathogenesis in mice via RACK1-mediated PKC activation and MAO-B upregulation.
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.
DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled.
Title: DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled.
PARK7 is induced to protect against endotoxic acute kidney injury by suppressing NF-kappaB.
Title: PARK7 is induced to protect against endotoxic acute kidney injury by suppressing NF-κB.
PARK7 deficiency inhibits fatty acid beta-oxidation via PTEN to delay liver regeneration after hepatectomy.
Title: PARK7 deficiency inhibits fatty acid β-oxidation via PTEN to delay liver regeneration after hepatectomy.

Submit: New GeneRIF Correction See all GeneRIFs (172)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (6) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235104

RH136588 (e-PCR)
- UniSTS:210568

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables L-dopa decarboxylase activator activity	ISO Inferred from Sequence Orthology more info
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables copper ion binding	ISO Inferred from Sequence Orthology more info
enables cupric ion binding	ISO Inferred from Sequence Orthology more info
enables cuprous ion binding	ISO Inferred from Sequence Orthology more info
enables cytokine binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables glyoxalase (glycolic acid-forming) activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	ISO Inferred from Sequence Orthology more info
enables mercury ion binding	ISO Inferred from Sequence Orthology more info
enables nuclear androgen receptor binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables oxygen sensor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables peroxiredoxin activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein deglycase activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables small protein activating enzyme binding	ISO Inferred from Sequence Orthology more info
enables superoxide dismutase copper chaperone activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables tyrosine 3-monooxygenase activator activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like protein conjugating enzyme binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-specific protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular detoxification of aldehyde	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification of methylglyoxal	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glyoxal	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to glyoxal	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detoxification of copper ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detoxification of copper ion	ISO Inferred from Sequence Orthology more info
involved_in detoxification of hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in detoxification of mercury ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detoxification of mercury ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dopamine uptake involved in synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutathione deglycation	ISO Inferred from Sequence Orthology 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 glycolate biosynthetic process	ISO Inferred from Sequence Orthology 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 glyoxal metabolic process	ISO Inferred from Sequence Orthology more info
involved_in guanine deglycation	ISO Inferred from Sequence Orthology more info
involved_in guanine deglycation, glyoxal removal	ISO Inferred from Sequence Orthology more info
involved_in guanine deglycation, methylglyoxal removal	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hydrogen peroxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lactate biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane hyperpolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in methylglyoxal catabolic process to lactate	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TRAIL-activated apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein K48-linked deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein acetylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein sumoylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smooth muscle cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-protein transferase activity	IC Inferred by Curator more info	PubMed
involved_in negative regulation of ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-specific protease activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-arginine deglycation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-cysteine deglycation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-lysine deglycation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of L-dopa biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of L-dopa decarboxylase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NAD(P)H oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of acute inflammatory response to antigenic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of androgen receptor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dopamine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fertilization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-8 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial electron transport, NADH to ubiquinone	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of oxidative phosphorylation uncoupler activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to nucleus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pyrroline-5-carboxylate reductase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of reactive oxygen species biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of superoxide dismutase activity	ISO Inferred from Sequence Orthology more info
involved_in 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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tyrosine 3-monooxygenase activity	ISO Inferred from Sequence Orthology more info
involved_in protein deglycation, glyoxal removal	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of androgen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within single fertilization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within synaptic transmission, dopaminergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA 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	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
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 nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in sperm head	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: Parkinson disease protein 7 homolog

Names: RNA-binding protein regulatory subunit; maillard deglycase; parkinson disease protein 7 homolog; parkinsonism-associated deglycase; protein DJ-1; protein deglycase DJ-1; protein/nucleic acid deglycase DJ-1

NP_065594.2

EC 3.5.1.124

XP_036020176.1

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.

mRNA and Protein(s)

NM_020569.3 → NP_065594.2 Parkinson disease protein 7 homolog

See identical proteins and their annotated locations for NP_065594.2

Status: VALIDATED

Source sequence(s)

AB015652, CA456587, CD776363

Consensus CDS

CCDS18975.1

UniProtKB/Swiss-Prot

O88306, Q3THB9, Q3U509, Q99LX0

UniProtKB/TrEMBL

A2A813

Related

ENSMUSP00000030805.8, ENSMUST00000030805.14

Conserved Domains (1) summary

TIGR01383
Location:5 → 184

not_thiJ; DJ-1 family protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

150981590..150994378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164283.1 → XP_036020176.1 Parkinson disease protein 7 homolog isoform X1

Conserved Domains (1) summary

cl00020
Location:51 → 128

GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain