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CHCHD4 - coiled-coil-helix-coiled-coil-helix domain containing 4 Gene

Also Known as MIA40; TIMM40

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 131474

About CHCHD4

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,112,077-14,124,870 (from NCBI)

This gene has 3 transcripts (splice variants) and 251 orthologues. Ubiquitous expression in kidney (RPKM 8.0), duodenum (RPKM 6.4) and 25 other tissues.

Summary

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

CHCHD4 Products (2)

mRNA	Protein	Name
NM_001098502.2	NP_001091972.1	mitochondrial intermembrane space import and assembly protein 40 isoform 1
NM_144636.3	NP_653237.1	mitochondrial intermembrane space import and assembly protein 40 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19182799	GOA
enables protein-disulfide reductase activity	IDA IDA: Inferred from direct assay	26387864	GOA
enables protein-disulfide reductase activity	IMP IMP: Inferred from mutant phenotype	19182799	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 'de novo' post-translational protein folding	IMP IMP: Inferred from mutant phenotype	21059946	GOA
involved in mitochondrial respiratory chain complex assembly	IMP IMP: Inferred from mutant phenotype	26004228	GOA
involved in peptidyl-cysteine oxidation	IMP IMP: Inferred from mutant phenotype	23676665	GOA
involved in protein folding	IMP IMP: Inferred from mutant phenotype	37159021	GOA
involved in protein import into mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	23676665	GOA
involved in protein maturation by protein folding	IMP IMP: Inferred from mutant phenotype	21059946	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	26004228	GOA
is active in mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	37159021	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	23676665	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHCHD4 Protein Structure

CHCH

0
100
142 a.a.

Protein Preferred Names	Protein Names
mitochondrial intermembrane space import and assembly protein 40	coiled-coil-helix-coiled-coil-helix domain-containing protein 4

CHCHD4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHCHD4	Q8N4Q1	MICU1	Homo sapiens	Q9BPX6	Anti Bait CoIP	26387864
Intra	CHCHD4	Q8N4Q1	MICU1	Homo sapiens	Q9BPX6	Anti Tag CoIP	26387864

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Mitochondrial Dna Depletion Syndrome 9	MTDPS9 Fatal Infantile Lactic Acidosis Lactic Acidosis, Fatal Infantile, Formerly Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Type 9 Lactic Acidosis, Fatal Infantile
Combined Oxidative Phosphorylation Deficiency 6	Severe X-Linked Mitochondrial Encephalomyopathy COXPD6 Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6 Mitochondrial Encephalomyopathy Due To Coxpd6 Encephalomyopathy, Mitochondrial, X-Linked Encephalomyopathy Mitochondrial X-Linked Oxidative Phosphorylation Deficiency, Combined, Type 6
Mohr-Tranebjaerg Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome Jensen Syndrome Deafness Dystonia Syndrome MTS Dds Deafness-Dystonia-Optic Atrophy Syndrome Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency Opticoacoustic Nerve Atrophy With Dementia Dystonia-Deafness Syndrome Ddp Ddon Syndrome Mohr-Tranebjærg Syndrome Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Ddon Deafness - Dystonia - Optic Neuronopathy Syndrome Deafness-Dystonia-Optic Neuronopathy Syndrome Hearing Loss-Dystonia-Optic Neuronopathy Syndrome Dfn-1 X-Linked Progressive Deafness Type 1
Charcot-Marie-Tooth Disease Type X
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02601	CHCHD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHCHD4	MGD	MGI:1919420
Canis familiaris	CHCHD4	VGNC	VGNC:39196
Bos taurus	CHCHD4	VGNC	VGNC:27273
Rattus norvegicus	CHCHD4	RGD	RGD:1310746
Others	CHCHD4	NCBI