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Aliases for CHCHD3 Gene

Aliases for CHCHD3 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 2 3
  • Mitochondrial Inner Membrane Organizing System 3 2 3
  • MINOS3 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 3, Mitochondrial 3
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 3 4
  • Protein Phosphatase 1, Regulatory Subunit 22 3
  • MICOS Complex Subunit MIC19 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 22 2
  • PPP1R22 3
  • MIC19 4

External Ids for CHCHD3 Gene

Previous GeneCards Identifiers for CHCHD3 Gene

  • GC07M131885
  • GC07M131926
  • GC07M132120
  • GC07M132470
  • GC07M126786

Summaries for CHCHD3 Gene

GeneCards Summary for CHCHD3 Gene

CHCHD3 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3) is a Protein Coding gene. GO annotations related to this gene include phosphatase binding and RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription. An important paralog of this gene is CHCHD6.

UniProtKB/Swiss-Prot for CHCHD3 Gene

  • Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD3 Gene

Genomics for CHCHD3 Gene

Regulatory Elements for CHCHD3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHCHD3 Gene

Start:
132,784,862 bp from pter
End:
133,082,088 bp from pter
Size:
297,227 bases
Orientation:
Minus strand

Genomic View for CHCHD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHCHD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD3 Gene

Proteins for CHCHD3 Gene

  • Protein details for CHCHD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX63-MIC19_HUMAN
    Recommended name:
    MICOS complex subunit MIC19
    Protein Accession:
    Q9NX63
    Secondary Accessions:

    Protein attributes for CHCHD3 Gene

    Size:
    227 amino acids
    Molecular mass:
    26152 Da
    Quaternary structure:
    • Interacts with HSPA1A/HSPA1B and OPA1, preferentially with the soluble OPA1 form (By similarity). Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27 and IMMT/MIC60. The complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2, and with HSPA9.

neXtProt entry for CHCHD3 Gene

Proteomics data for CHCHD3 Gene at MOPED

Post-translational modifications for CHCHD3 Gene

  • Ubiquitination at Lys189
  • Modification sites at PhosphoSitePlus

Other Protein References for CHCHD3 Gene

No data available for DME Specific Peptides for CHCHD3 Gene

Domains for CHCHD3 Gene

Gene Families for CHCHD3 Gene

HGNC:
  • CHCHD :Coiled-coil-helix-coiled-coil-helix domain containing
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Protein Domains for CHCHD3 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NX63

UniProtKB/Swiss-Prot:

MIC19_HUMAN :
  • Q9NX63
Domain:
  • Contains 1 CHCH domain.
Family:
  • Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic19 subfamily.
genes like me logo Genes that share domains with CHCHD3: view

Function for CHCHD3 Gene

Molecular function for CHCHD3 Gene

UniProtKB/Swiss-Prot Function: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription.

Gene Ontology (GO) - Molecular Function for CHCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 22567091
GO:0005515 protein binding IPI 16189514
GO:0019902 phosphatase binding IDA 19389623
GO:0032947 protein complex scaffold ISS --
genes like me logo Genes that share ontologies with CHCHD3: view

Phenotypes for CHCHD3 Gene

MGI mutant phenotypes for CHCHD3:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CHCHD3: view

Animal Model Products

CRISPR Products

miRNA for CHCHD3 Gene

miRTarBase miRNAs that target CHCHD3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHCHD3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHCHD3 Gene

Localization for CHCHD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD3 Gene

Mitochondrion inner membrane; Lipid-anchor; Intermembrane side. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD3 Gene COMPARTMENTS Subcellular localization image for CHCHD3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for CHCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22567091
GO:0005737 cytoplasm IDA 22567091
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane ISS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CHCHD3: view

Pathways for CHCHD3 Gene

SuperPathways for CHCHD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 22567091
GO:0006351 transcription, DNA-templated IEA --
GO:0007007 inner mitochondrial membrane organization IMP 21081504
GO:0008053 mitochondrial fusion IMP 21081504
genes like me logo Genes that share ontologies with CHCHD3: view

No data available for Pathways by source for CHCHD3 Gene

Transcripts for CHCHD3 Gene

Unigene Clusters for CHCHD3 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHCHD3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD3 Gene

No ASD Table

Relevant External Links for CHCHD3 Gene

GeneLoc Exon Structure for
CHCHD3
ECgene alternative splicing isoforms for
CHCHD3

Expression for CHCHD3 Gene

mRNA expression in normal human tissues for CHCHD3 Gene

mRNA differential expression in normal tissues according to GTEx for CHCHD3 Gene

This gene is overexpressed in Muscle - Skeletal (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHCHD3 Gene

SOURCE GeneReport for Unigene cluster for CHCHD3 Gene Hs.655010

mRNA Expression by UniProt/SwissProt for CHCHD3 Gene

Q9NX63-MIC19_HUMAN
Tissue specificity: Detected at low levels in brain, placenta, lung, liver, kidney and pancreas with increased levels in heart and skeletal muscle. Higher expression in primary lung cancers than in normal lung tissue.
genes like me logo Genes that share expressions with CHCHD3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CHCHD3 Gene

Orthologs for CHCHD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHCHD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHCHD3 35
  • 99.56 (n)
  • 99.56 (a)
CHCHD3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHCHD3 35
  • 89.87 (n)
  • 89.87 (a)
CHCHD3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD3 35
  • 91.92 (n)
  • 90.75 (a)
CHCHD3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd3 35
  • 87.52 (n)
  • 90.31 (a)
Chchd3 16
Chchd3 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHCHD3 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD3 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd3 35
  • 85.76 (n)
  • 85.9 (a)
chicken
(Gallus gallus)
Aves CHCHD3 35
  • 76.64 (n)
  • 74.11 (a)
CHCHD3 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHCHD3 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd3 35
  • 66.32 (n)
  • 60 (a)
Str.12015 35
zebrafish
(Danio rerio)
Actinopterygii chchd3 35
  • 61.34 (n)
  • 56.15 (a)
chchd3 36
  • 39 (a)
OneToMany
CHCHD3 (2 of 2) 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5473 36
  • 28 (a)
OneToMany
Species with no ortholog for CHCHD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 CHCHD3 Gene

ENSEMBL:
Gene Tree for CHCHD3 (if available)
TreeFam:
Gene Tree for CHCHD3 (if available)

Paralogs for CHCHD3 Gene

Paralogs for CHCHD3 Gene

Selected SIMAP similar genes for CHCHD3 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for CHCHD3 Gene

genes like me logo Genes that share paralogs with CHCHD3: view

Variants for CHCHD3 Gene

Sequence variations from dbSNP and Humsavar for CHCHD3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs759709 -- 132,892,189(+) aaagt(C/T)tggaa intron-variant
rs889944 -- 132,806,943(+) TTAAG(A/G)AATAA intron-variant
rs918886 -- 132,798,647(+) CAGGG(C/G)GAAGG intron-variant
rs929714 -- 132,945,286(+) AAAAC(A/G)ATTAA intron-variant
rs973661 -- 132,847,473(+) CATCT(G/T)GTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD3 Gene

Variant ID Type Subtype PubMed ID
dgv2138e1 CNV Complex 17122850
nsv889209 CNV Gain 21882294
dgv7493n71 CNV Gain 21882294
nsv889212 CNV Gain 21882294
nsv889213 CNV Gain 21882294
nsv831142 CNV Gain 17160897
nsv507419 CNV Insertion 20534489
nsv525206 CNV Loss 19592680
esv2735169 CNV Deletion 23290073
esv2677444 CNV Deletion 23128226
nsv515919 CNV Gain 19592680
nsv7407 OTHER Inversion 18451855
nsv511991 CNV Loss 21212237
esv1285918 CNV Deletion 17803354
nsv889214 CNV Gain 21882294

Relevant External Links for CHCHD3 Gene

HapMap Linkage Disequilibrium report
CHCHD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD3 Gene

Disorders for CHCHD3 Gene

Relevant External Links for CHCHD3

Genetic Association Database (GAD)
CHCHD3
Human Genome Epidemiology (HuGE) Navigator
CHCHD3
genes like me logo Genes that share disorders with CHCHD3: view

No data available for UniProtKB/Swiss-Prot for CHCHD3 Gene

Publications for CHCHD3 Gene

  1. ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function. (PMID: 21081504) Darshi M. … Taylor S.S. (J. Biol. Chem. 2011) 2 3 4
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for CHCHD3 Gene

Sources for CHCHD3 Gene

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