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Aliases for CHCHD3 Gene

Aliases for CHCHD3 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 2 3 5
  • Mitochondrial Inner Membrane Organizing System 3 2 3
  • MINOS3 3 4
  • Mic19 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
  • Protein Phosphatase 1 2
  • Regulatory Subunit 22 2
  • PPP1R22 3

External Ids for CHCHD3 Gene

Previous GeneCards Identifiers for CHCHD3 Gene

  • GC07M131885
  • GC07M131926
  • GC07M132120
  • GC07M132470
  • GC07M126786

Summaries for CHCHD3 Gene

Entrez Gene Summary for CHCHD3 Gene

  • The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

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 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding. 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. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180).

No data available for 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

Enhancers for CHCHD3 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 CHCHD3 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHCHD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD3 Gene

Chromosome:
7
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

Genes around CHCHD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for CHCHD3 Gene

    Size:
    227 amino acids
    Molecular mass:
    26152 Da
    Quaternary structure:
    • Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:21081504, PubMed:22114354, PubMed:22228767, PubMed:25997101). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:21081504, PubMed:22114354, PubMed:22228767, PubMed:25997101). Found in a complex with IMMT/MIC60 and SAMM50 termed mitochondrial intermembrane space bridging (MIB) complex. Interacts with HSPA1A/HSPA1B and OPA1, preferentially with the soluble OPA1 form (By similarity). Interacts with IMMT/MIC60.

neXtProt entry for CHCHD3 Gene

Proteomics data for CHCHD3 Gene at MOPED

Post-translational modifications for CHCHD3 Gene

  • Ubiquitination at Lys 189
  • Modification sites at PhosphoSitePlus

Other Protein References for CHCHD3 Gene

No data available for DME Specific Peptides for CHCHD3 Gene

Domains & Families for CHCHD3 Gene

Protein Domains for CHCHD3 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NX63

UniProtKB/Swiss-Prot:

MIC19_HUMAN :
  • Contains 1 CHCH domain.
  • Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic19 subfamily.
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. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180).

Gene Ontology (GO) - Molecular Function for CHCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16189514
genes like me logo Genes that share ontologies with CHCHD3: view
genes like me logo Genes that share phenotypes with CHCHD3: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. Mitochondrion.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for CHCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22567091
GO:0061617 MICOS complex IDA 25781180
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CHCHD3: view

Pathways & Interactions 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:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CHCHD3: view

No data available for Pathways by source and SIGNOR curated interactions for CHCHD3 Gene

Drugs & Compounds for CHCHD3 Gene

No Compound Related Data Available

Transcripts for CHCHD3 Gene

Unigene Clusters for CHCHD3 Gene

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

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 (x5.4).

Protein differential expression in normal tissues from HIPED for CHCHD3 Gene

This gene is overexpressed in Nasal epithelium (18.2) and Peripheral blood mononuclear cells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CHCHD3: view

Protein tissue co-expression partners for CHCHD3 Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia CHCHD3 35
  • 99.56 (n)
  • 99.56 (a)
CHCHD3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd3 35
  • 85.76 (n)
  • 85.9 (a)
oppossum
(Monodelphis domestica)
Mammalia CHCHD3 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD3 36
  • 73 (a)
OneToOne
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

(1) 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
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
rs998827 -- 132,802,235(-) ATGTT(A/G)TTAGA 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

Variation tolerance for CHCHD3 Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.55% 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 CHCHD3 Gene

Disorders for CHCHD3 Gene

Relevant External Links for CHCHD3

Genetic Association Database (GAD)
CHCHD3
Human Genome Epidemiology (HuGE) Navigator
CHCHD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD3

No disorders were found for CHCHD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHCHD3 Gene

Publications for CHCHD3 Gene

  1. Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes. (PMID: 22252321) Ott C. … Kozjak-Pavlovic V. (Mol. Cell. Biol. 2012) 2 3 4 67
  2. Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space. (PMID: 23019327) Darshi M. … Taylor S.S. (J. Biol. Chem. 2012) 2 3
  3. 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. The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil- helix domain-containing protein 3 and 6 and DnaJC11. (PMID: 17624330) Xie J. … Capaldi R.A. (FEBS Lett. 2007) 2 3
  5. Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization. (PMID: 26250910) Li H. … Song Z. (Cell Death Differ. 2016) 3

Products for CHCHD3 Gene

Sources for CHCHD3 Gene

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