HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHCHD1
coiled-coil-helix-coiled-coil-helix domain containing 1
Chromosome 10 · 10q22.2
NCBI Gene: 118487Ensembl: ENSG00000172586.8HGNC: HGNC:23518UniProt: Q96BP2
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingnucleoplasmmitochondrionneurodegenerative diseaseatrial fibrillationcongestive heart failuresystolic heart failure
✦AI Summary

CHCHD1 is a mitochondrial protein that functions as a component of the mammalian mitochondrial ribosome, specifically designated as MRPS37 in the small ribosomal subunit 1. It plays an essential role in mitochondrial protein synthesis and the translational machinery required for producing oxidative phosphorylation (OXPHOS) complex subunits 1. The protein contains a conserved coiled-coil-helix-coiled-coil-helix structural domain found across eukaryotes 2. Beyond its canonical mitochondrial function, CHCHD1 has emerged as a disease-relevant gene in multiple pathological contexts. Genetic variants in CHCHD1 are associated with coronary artery disease (CAD) risk, with significantly altered expression between CAD patients and controls 3. In hepatocellular carcinoma (HCC), CHCHD1 is significantly upregulated and promotes tumor progression by enhancing epithelial-mesenchymal transition and immune evasion through transforming growth factor-β1 signaling, correlating with poor survival outcomes 4. CHCHD1 expression is stable across hypoxia conditions in cervical cancer, making it suitable as a reference gene for RT-qPCR studies 5. Additionally, CHCHD1 is a hub gene in YAP1 co-expression networks involved in mitochondrial dysfunction across multiple cancers 6. These findings position CHCHD1 as both a fundamental mitochondrial protein and a multifaceted biomarker in cancer and cardiovascular disease.

Sources cited
1
CHCHD1 (MRPS37) is a mitochondrial ribosomal protein component essential for mitochondrial protein synthesis and OXPHOS complex subunit expression
PMID: 23908630
2
CHCHD1 genetic variants are associated with coronary artery disease risk with significantly altered expression in CAD patients
PMID: 33725943
3
CHCHD1 is upregulated in hepatocellular carcinoma and promotes tumor progression via EMT and TGF-β signaling with poor prognostic significance
PMID: 41022542
4
CHCHD1 shows stable expression independent of hypoxia status in cervical cancer, qualifying it as a suitable reference gene
PMID: 27244197
5
CHCHD1 is a hub gene in YAP1 co-expression networks involved in mitochondrial oxidative phosphorylation regulation across multiple cancers
PMID: 34257617
6
CHCHD1 contains a conserved coiled-coil-helix-coiled-coil-helix domain structure conserved across eukaryotes
PMID: 15177562
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.10Suggestive
congestive heart failureOpen Targets
0.06Suggestive
systolic heart failureOpen Targets
0.06Suggestive
aortic stenosisOpen Targets
0.05Suggestive
smoking cessationOpen Targets
0.04Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
Spina bifida - hypospadiasOpen Targets
0.03Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.03Suggestive
anencephaly 1Open Targets
0.03Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.03Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.03Suggestive
tropical spastic paraparesisOpen Targets
0.03Suggestive
spina bifidaOpen Targets
0.03Suggestive
substance-related disorderOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GATBShared pathway100%MRPL46Shared pathway100%MRPL39Shared pathway100%MRPS10Shared pathway100%MRPL38Shared pathway100%MRPL45Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Heart
90%
Lung
59%
Brain
59%
Bone Marrow
49%
Ovary
48%
Gene Interaction Network
Click a node to explore
CHCHD1GATBMRPL46MRPL39MRPS10MRPL38MRPL45
PROTEIN STRUCTURE
Preparing viewer…
PDB7QI4 · 2.21 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.63–1.63]
RankingsWhere CHCHD1 stands among ~20K protein-coding genes
  • #11,681of 20,598
    Most Researched31
  • #15,781of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedCHCHD1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome.
PMID: 23908630
Front Physiol · 2013
1.00
2
Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease.
PMID: 33725943
Medicine (Baltimore) · 2021
0.86
3
Coiled-coil-helix-coiled-coil-helix Domain Containing 1 Promotes Hepatocellular Carcinoma Progression by Regulating Transforming Growth Factor Beta Receptor 1 in the Tumor Immune Microenvironment.
PMID: 41022542
Genet Test Mol Biomarkers · 2025
0.71
4
Identification and Validation of Reference Genes for RT-qPCR Studies of Hypoxia in Squamous Cervical Cancer Patients.
PMID: 27244197
PLoS One · 2016
0.57
5
Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.
PMID: 24137763
J Inherit Metab Dis · 2010
0.43