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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
  • 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CHCHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD1 Gene

Chromosome:
10
Start:
73,782,047 bp from pter
End:
73,783,652 bp from pter
Size:
1,606 bases
Orientation:
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:
    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 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

Proteomics data for CHCHD1 Gene at MOPED

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

InterPro:
ProtoNet:

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 :
  • Contains 1 CHCH domain.
Domain:
  • Contains 1 CHCH domain.
genes like me logo Genes that share domains with CHCHD1: view

Function for CHCHD1 Gene

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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CHCHD1 Gene COMPARTMENTS Subcellular localization image for CHCHD1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
extracellular 2

Gene Ontology (GO) - Cellular Components for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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

Interacting Proteins for CHCHD1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000361923%0d%0a9606.ENSP00000451211%0d%0a9606.ENSP00000301585%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000440586%0d%0a
Selected Interacting proteins: Q96BP2-CHCH1_HUMAN ENSP00000361923 for CHCHD1 Gene via MINT STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for CHCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation 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:

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 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, MOPED, and MaxQB for CHCHD1 Gene



SOURCE GeneReport for Unigene cluster for CHCHD1 Gene Hs.181174

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

Protein tissue co-expression partners for CHCHD1 Gene

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
cow
(Bos Taurus)
Mammalia CHCHD1 35
  • 87.29 (n)
  • 85.59 (a)
CHCHD1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD1 35
  • 85.03 (n)
  • 84.75 (a)
CHCHD1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd1 35
  • 82.62 (n)
  • 83.76 (a)
Chchd1 16
Chchd1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD1 35
  • 99.72 (n)
  • 100 (a)
CHCHD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd1 35
  • 83.33 (n)
  • 83.9 (a)
oppossum
(Monodelphis domestica)
Mammalia CHCHD1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD1 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD1 35
  • 58.08 (n)
  • 52.58 (a)
CHCHD1 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHCHD1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd1 35
  • 57.46 (n)
  • 53.85 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18472 35
zebrafish
(Danio rerio)
Actinopterygii chchd1 35
  • 53.05 (n)
  • 49.46 (a)
chchd1 36
  • 42 (a)
OneToOne
Species with no ortholog for CHCHD1:
  • 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 Sequence Context AA Info Type
rs4082339 -- 73,780,054(+) CAACA(C/T)GAATC upstream-variant-2KB
rs4745722 -- 73,782,828(+) AATTG(C/T)TAGCT intron-variant
rs1061969 -- 73,780,952(-) AGAAC(A/T)TTTGG upstream-variant-2KB
rs11000776 -- 73,783,461(+) CCCTA(A/G)GAGCA utr-variant-3-prime
rs138256648 -- 73,781,802(+) CCCGG(-/C)CCCCG upstream-variant-2KB

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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CHCHD1 Gene

Disorders for CHCHD1 Gene

Relevant External Links for CHCHD1

Genetic Association Database (GAD)
CHCHD1
Human Genome Epidemiology (HuGE) Navigator
CHCHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD1

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 23 67
  2. LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells. (PMID: 23443559) Fogeron M.L. … Lange B.M. (Nat Commun 2013) 3
  3. Global landscape of HIV-human protein complexes. (PMID: 22190034) JAoger S. … Krogan N.J. (Nature 2012) 3
  4. The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. (PMID: 22681889) Baltz A.G. … Landthaler M. (Mol. Cell 2012) 3
  5. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PMID: 20186120) Richter R. … Chrzanowska-Lightowlers Z.M. (EMBO J. 2010) 3

Products for CHCHD1 Gene

Sources for CHCHD1 Gene

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