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Aliases for CHCHD1 Gene

Aliases for CHCHD1 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 1 2 3 5
  • 28S Ribosomal Protein S37, Mitochondrial 3 4
  • Nuclear Protein C2360 3 4
  • C10orf34 3 4
  • MRP-S37 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 1 3
  • Chromosome 10 Open Reading Frame 34 2
  • MRPS37 4
  • C2360 3

External Ids for CHCHD1 Gene

Previous HGNC Symbols for CHCHD1 Gene

  • C10orf34

Previous GeneCards Identifiers for CHCHD1 Gene

  • GC10P074887
  • GC10P075211
  • GC10P075541
  • GC10P069537

Summaries for CHCHD1 Gene

GeneCards Summary for CHCHD1 Gene

CHCHD1 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 1) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD1 Gene

Genomics for CHCHD1 Gene

Regulatory Elements for CHCHD1 Gene

Enhancers for CHCHD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F073809 1.1 ENCODE 12.7 +29.0 28971 3.5 CREB3L1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 KLF13 SP3 SP5 NFYC FUT11 DUSP8P5 ENSG00000242288 GLUD1P3 CAMK2G ENSG00000272140 RPL17P50 CHCHD1 ZSWIM8 AP3M1
GH10F073803 0.7 ENCODE 12.7 +21.9 21949 1.4 HDGF MTA2 EBF1 ZBTB40 YY1 RELA SP1 IKZF1 NFYB NBN CHCHD1 ENSG00000229990 CAMK2G USP54 RNU6-883P ZSWIM8-AS1 ENSG00000272916
GH10F074009 1.2 Ensembl ENCODE 4.8 +229.6 229554 3.6 HDAC1 PKNOX1 FEZF1 RAD21 YY1 ZNF121 ZNF366 SMARCA5 CEBPB ZNF843 C10orf55 CHCHD1 ENSG00000225761 GC10P074056
GH10F073983 1.1 Ensembl ENCODE 4.8 +202.0 202040 1.0 ELF3 THRB RARA ZNF766 GATA2 SCRT2 HMG20B KLF11 ZBTB2 MXD4 ADK ANXA7 CHCHD1 VCL GC10M073941
GH10F073780 1.1 ENCODE 0.8 -0.1 -88 2.6 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 ZSWIM8 ECD AP3M1 GLUD1P3 DUSP8P5 MYOZ1 ENSG00000272140 BMS1P4 NDST2 ENSG00000224195
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHCHD1 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000221169 153 2001 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3

Genomic Location for CHCHD1 Gene

73,782,047 bp from pter
73,783,652 bp from pter
1,606 bases
Plus strand

Genomic View for CHCHD1 Gene

Genes around CHCHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD1 Gene

Proteins for CHCHD1 Gene

  • Protein details for CHCHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 1
    Protein Accession:

    Protein attributes for CHCHD1 Gene

    118 amino acids
    Molecular mass:
    13475 Da
    Quaternary structure:
    • Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins.

    Three dimensional structures from OCA and Proteopedia for CHCHD1 Gene

neXtProt entry for CHCHD1 Gene

Post-translational modifications for CHCHD1 Gene

  • Ubiquitination at Lys 106
  • Modification sites at PhosphoSitePlus

Other Protein References for CHCHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHCHD1 Gene

Domains & Families for CHCHD1 Gene

Protein Domains for CHCHD1 Gene

Suggested Antigen Peptide Sequences for CHCHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
genes like me logo Genes that share domains with CHCHD1: view

Function for CHCHD1 Gene

Gene Ontology (GO) - Molecular Function for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with CHCHD1: view
genes like me logo Genes that share phenotypes with CHCHD1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CHCHD1 Gene

Localization for CHCHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD1 Gene

Mitochondrion. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHCHD1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
extracellular 2

Gene Ontology (GO) - Cellular Components for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with CHCHD1: view

Pathways & Interactions for CHCHD1 Gene

genes like me logo Genes that share pathways with CHCHD1: view

Gene Ontology (GO) - Biological Process for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032543 mitochondrial translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with CHCHD1: view

No data available for SIGNOR curated interactions for CHCHD1 Gene

Transcripts for CHCHD1 Gene

mRNA/cDNA for CHCHD1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(77) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHCHD1 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD1 Gene

ExUns: 1 ^ 2 ^ 3

Relevant External Links for CHCHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHCHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHCHD1 Gene

Protein differential expression in normal tissues from HIPED for CHCHD1 Gene

This gene is overexpressed in Breast (29.3) and Pancreas (26.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHCHD1 Gene

Protein tissue co-expression partners for CHCHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHCHD1 Gene:


SOURCE GeneReport for Unigene cluster for CHCHD1 Gene:

genes like me logo Genes that share expression patterns with CHCHD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHCHD1 Gene

Orthologs for CHCHD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHCHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHCHD1 34 35
  • 99.72 (n)
(Bos Taurus)
Mammalia CHCHD1 34 35
  • 87.29 (n)
(Canis familiaris)
Mammalia CHCHD1 34 35
  • 85.03 (n)
(Rattus norvegicus)
Mammalia Chchd1 34
  • 83.33 (n)
(Mus musculus)
Mammalia Chchd1 34 16 35
  • 82.62 (n)
(Monodelphis domestica)
Mammalia CHCHD1 35
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia CHCHD1 35
  • 56 (a)
(Gallus gallus)
Aves CHCHD1 34 35
  • 58.08 (n)
(Anolis carolinensis)
Reptilia CHCHD1 35
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd1 34
  • 57.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18472 34
(Danio rerio)
Actinopterygii chchd1 34 35
  • 53.05 (n)
Species where no ortholog for CHCHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHCHD1 Gene

Gene Tree for CHCHD1 (if available)
Gene Tree for CHCHD1 (if available)

Paralogs for CHCHD1 Gene Pseudogenes for CHCHD1 Gene

genes like me logo Genes that share paralogs with CHCHD1: view

No data available for Paralogs for CHCHD1 Gene

Variants for CHCHD1 Gene

Sequence variations from dbSNP and Humsavar for CHCHD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1061969 -- 73,780,952(-) AGAAC(A/T)TTTGG nc-transcript-variant, upstream-variant-2KB
rs11000776 -- 73,783,461(+) CCCTA(A/G)GAGCA upstream-variant-2KB, utr-variant-3-prime
rs111315991 -- 73,781,189(+) GTTCG(A/G)GACCA nc-transcript-variant, upstream-variant-2KB
rs111983303 -- 73,783,938(+) TTTCT(A/G)TTTTC downstream-variant-500B, upstream-variant-2KB
rs113150832 -- 73,783,342(+) TTATG(A/T)TTTAT upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CHCHD1 Gene

Variant ID Type Subtype PubMed ID
nsv831912 CNV gain 17160897
nsv825468 CNV gain 20364138
nsv551516 CNV loss 21841781
nsv1035634 CNV gain 25217958

Variation tolerance for CHCHD1 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD1 Gene

Disorders for CHCHD1 Gene

Relevant External Links for CHCHD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for CHCHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHCHD1 Gene

Publications for CHCHD1 Gene

  1. C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain. (PMID: 15177562) Westerman B.A. … Oudejans C.B.M. (Genomics 2004) 3 4 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for CHCHD1 Gene

Sources for CHCHD1 Gene

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