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Aliases for CHCHD1 Gene

Aliases for CHCHD1 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 1 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein MS37 3 4
  • 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 Organelle biogenesis and maintenance and Mitochondrial translation.

Additional gene information for CHCHD1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for CHCHD1 Gene

Promoters and enhancers for CHCHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I073780 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -87 2.6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 E2F8 CHCHD1 GC10M073780 NDST2 ZSWIM8 SEC24C ECD AP3M1 GLUD1P3 DUSP8P5 MYOZ1
GH10I073809 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.7 +29.0 28971 3.5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF766 E2F8 ZNF207 ZNF143 KLF13 NDST2 ENSG00000272916 ECD ZSWIM8 SEC24C FUT11 DUSP8P5 CAMK2G ENSG00000272140 AP3M1
GH10I073810 Promoter 1 EPDnew 12.7 +27.1 27088 0.1 MEIS2 PKNOX1 ETV1 TEAD4 ZNF644 TCF12 ZNF766 NCOR1 VEZF1 CBFA2T2 NDST2 ZSWIM8 CHCHD1 ENSG00000229990 CAMK2G USP54 RNU6-883P ENSG00000272916 ZSWIM8-AS1
GH10I073803 Enhancer 0.9 ENCODE dbSUPER 12.8 +21.9 21949 1.4 HDGF EBF1 BATF RELA ZNF207 ATF7 BCLAF1 IKZF2 RUNX3 ZNF687 CHCHD1 ENSG00000229990 CAMK2G USP54 RNU6-883P ZSWIM8-AS1 NDST2 ENSG00000272916
GH10I074010 Enhancer 1.2 Ensembl ENCODE dbSUPER 4.8 +229.8 229809 2.9 HDAC1 HDGF PKNOX1 FEZF1 ZNF213 SMAD5 CEBPB ZNF843 ZNF592 MAFF NDST2 ENSG00000268584 ZSWIM8 C10orf55 ECD ZSWIM8-AS1 ENSG00000272791 CHCHD1 ENSG00000225761 VCL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHCHD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHCHD1 gene promoter:

Genomic Locations for CHCHD1 Gene

Genomic Locations for CHCHD1 Gene
chr10:73,782,047-73,783,652
(GRCh38/hg38)
Size:
1,606 bases
Orientation:
Plus strand
chr10:75,541,805-75,543,410
(GRCh37/hg19)

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:
    Q96BP2-CHCH1_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 1
    Protein Accession:
    Q96BP2

    Protein attributes for CHCHD1 Gene

    Size:
    118 amino acids
    Molecular mass:
    13475 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for CHCHD1 Gene

neXtProt entry for CHCHD1 Gene

Post-translational modifications for CHCHD1 Gene

  • Ubiquitination at posLast=106106
  • 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

Gene 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

Q96BP2

UniProtKB/Swiss-Prot:

CHCH1_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mS37 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mS37 family.
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:0003723 RNA binding IDA,HDA 22681889
GO:0005515 protein binding IPI 22190034
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

COMPARTMENTS
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,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

Drugs & Compounds for CHCHD1 Gene

No Compound Related Data Available

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:

Clone Products

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

ExUns: 1 ^ 2 ^ 3
SP1:
SP2:

Relevant External Links for CHCHD1 Gene

GeneLoc Exon Structure for
CHCHD1
ECgene alternative splicing isoforms for
CHCHD1

Expression for CHCHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CHCHD1 Gene



Protein tissue co-expression partners for CHCHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHCHD1 Gene:

CHCHD1

SOURCE GeneReport for Unigene cluster for CHCHD1 Gene:

Hs.181174

Evidence on tissue expression from TISSUES for CHCHD1 Gene

  • Intestine(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with CHCHD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CHCHD1 33 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia CHCHD1 33 34
  • 87.29 (n)
dog
(Canis familiaris)
Mammalia CHCHD1 33 34
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Chchd1 33
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Chchd1 33 16 34
  • 82.62 (n)
oppossum
(Monodelphis domestica)
Mammalia CHCHD1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD1 33 34
  • 58.08 (n)
lizard
(Anolis carolinensis)
Reptilia CHCHD1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd1 33
  • 57.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18472 33
zebrafish
(Danio rerio)
Actinopterygii chchd1 33 34
  • 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

ENSEMBL:
Gene Tree for CHCHD1 (if available)
TreeFam:
Gene Tree for CHCHD1 (if available)

Paralogs for CHCHD1 Gene

Pseudogenes.org 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 Variation AA Info Type
rs1000729400 -- 73,781,508(+) A/G upstream_transcript_variant
rs1001097920 -- 73,781,165(+) A/G upstream_transcript_variant
rs1001631817 -- 73,780,310(+) AAAAAA/AAA/AAAAA upstream_transcript_variant
rs1002900966 -- 73,781,832(+) G/A upstream_transcript_variant
rs1002922317 -- 73,783,478(+) G/A/C/T 3_prime_UTR_variant

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

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

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)

Additional Variant Information for CHCHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHCHD1

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

Disorders for CHCHD1 Gene

Additional Disease Information for CHCHD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 BA … Oudejans CB (Genomics 2004) 3 4 22 58
  2. Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome. (PMID: 23908630) Koc EC … Koc H (Frontiers in physiology 2013) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for CHCHD1 Gene

Sources for CHCHD1 Gene

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