Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chchd4provided by MGI
Official Full Name: coiled-coil-helix-coiled-coil-helix domain containing 4provided by MGI
Primary source: MGI:MGI:1919420
See related: Ensembl:ENSMUSG00000034203 AllianceGenome:MGI:1919420
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2410012P20Rik; 2810014D17Rik
Summary: Predicted to enable protein-disulfide reductase activity. Involved in mitochondrial respiratory chain complex assembly. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; mitochondrial DNA repair; and regulation of protein export from nucleus. Located in mitochondrion. Is expressed in brain; embryo; liver; and spleen. Orthologous to human CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 19.3), CNS E18 (RPKM 16.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 40.53 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (91441258..91450405, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (91464276..91473423, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

CHCHD4-TRIAP1 regulation of innate immune signaling mediates skeletal muscle adaptation to exercise.
Title: CHCHD4-TRIAP1 regulation of innate immune signaling mediates skeletal muscle adaptation to exercise.
Ligand Binding in Allosteric Flavoproteins: Part 2. Quantitative Analysis of the Redox-Dependent Interaction of the Apoptosis-Inducing Factor (AIF) with Its Protein Partner.
Title: Ligand Binding in Allosteric Flavoproteins: Part 2. Quantitative Analysis of the Redox-Dependent Interaction of the Apoptosis-Inducing Factor (AIF) with Its Protein Partner.
To test whether differences in the ratio between CHCHD4 and ALR might explain tissue-specific differences in the CHCHD4 redox state, we determined the molar ratio of both proteins in different mouse tissues. Surprisingly, ALR is superstoichiometric over CHCHD4 in most tissues.
Title: The mitochondrial oxidoreductase CHCHD4 is present in a semi-oxidized state in vivo.
These results suggest that CHCHD4 haploinsufficiency afforded persistent neuroprotection related to reduced release of mitochondrial intermembrane space proteins.
Title: Haploinsufficiency in the mitochondrial protein CHCHD4 reduces brain injury in a mouse model of neonatal hypoxia-ischemia.
Mechanistically, exercise-induced nuclear transcription factor FOXO3 binds to the CHCHD4 promoter and represses its expression, preventing the translocation of p53 to the mitochondria and thereby increasing p53 nuclear localization.
Title: Forkhead Box O3A (FOXO3) and the Mitochondrial Disulfide Relay Carrier (CHCHD4) Regulate p53 Protein Nuclear Activity in Response to Exercise.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-disulfide reductase activity	ISO Inferred from Sequence Orthology more info
enables protein-disulfide reductase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 'de novo' post-translational protein folding	ISO Inferred from Sequence Orthology more info
involved_in 'de novo' post-translational protein folding	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within establishment of protein localization to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial disulfide relay system	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial respiratory chain complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex assembly	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-cysteine oxidation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-cysteine oxidation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cellular respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
involved_in protein import into mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein maturation by protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation by protein folding	ISO Inferred from Sequence Orthology more info
involved_in protein maturation by protein folding	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of protein export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: mitochondrial intermembrane space import and assembly protein 40

Names: coiled-coil-helix-coiled-coil-helix domain-containing protein 4

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.