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Aliases for CMC1 Gene

Aliases for CMC1 Gene

  • C-X9-C Motif Containing 1 2 3 5
  • C-X(9)-C Motif Containing 1 2 3
  • C3orf68 3 4
  • Cmc1p 3 4
  • CX9C Mitochondrial Protein Required For Full Expression Of COX 1 3
  • COX Assembly Mitochondrial Protein 1 Homolog (S. Cerevisiae) 2
  • COX Assembly Mitochondrial Protein 1 Homolog 3
  • Mitochondrial Metallochaperone-Like Protein 3
  • COX Assembly Mitochondrial Protein Homolog 3
  • Chromosome 3 Open Reading Frame 68 2

External Ids for CMC1 Gene

Previous HGNC Symbols for CMC1 Gene

  • C3orf68

Previous GeneCards Identifiers for CMC1 Gene

  • GC03P028259

Summaries for CMC1 Gene

GeneCards Summary for CMC1 Gene

CMC1 (C-X9-C Motif Containing 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CMC1 Gene

  • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

Additional gene information for CMC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMC1 Gene

Genomics for CMC1 Gene

GeneHancer (GH) Regulatory Elements for CMC1 Gene

Promoters and enhancers for CMC1 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
GH03J028240 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 650.7 +0.7 741 4.6 HDGF FOXA2 PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CMC1 GC03P028315
GH03J027316 Enhancer 0.9 ENCODE 8.9 -924.3 -924289 0.8 ELF3 FOXA2 ARID4B RAD21 THRB RARA ZNF614 CREM THAP11 MIXL1 NEK10 RNU6-342P CMC1 GC03P027342 GC03M027265
GH03J028287 Enhancer 0.7 ENCODE 11.4 +45.2 45201 0.2 SMARCA5 CTCF ZNF654 TRIM22 ELF1 RAD21 ZNF592 ZNF148 ZNF217 ZNF143 CMC1 GC03P028315
GH03J028326 Enhancer 0.7 ENCODE 10.7 +85.2 85161 1 PKNOX1 SMAD1 BMI1 GATA3 ATF7 NFE2 IKZF2 RUNX3 SRF SMARCA5 AZI2 ZCWPW2 CMC1 GC03P028315
GH03J028140 Enhancer 0.7 ENCODE 10.3 -101.2 -101169 0.2 ELF3 SOX13 FOXA2 SAP130 RAD21 RARA ZKSCAN1 TEAD3 SMARCC2 NR2F6 CMC1 LOC105377008 GC03P028218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CMC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CMC1 gene promoter:

Genomic Locations for CMC1 Gene

Genomic Locations for CMC1 Gene
chr3:28,241,584-28,325,142
(GRCh38/hg38)
Size:
83,559 bases
Orientation:
Plus strand
chr3:28,283,075-28,366,633
(GRCh37/hg19)

Genomic View for CMC1 Gene

Genes around CMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMC1 Gene

Proteins for CMC1 Gene

  • Protein details for CMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7K0-COXM1_HUMAN
    Recommended name:
    COX assembly mitochondrial protein homolog
    Protein Accession:
    Q7Z7K0
    Secondary Accessions:
    • Q68DJ7

    Protein attributes for CMC1 Gene

    Size:
    106 amino acids
    Molecular mass:
    12490 Da
    Quaternary structure:
    • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14.

neXtProt entry for CMC1 Gene

Post-translational modifications for CMC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CMC1 Gene

Domains & Families for CMC1 Gene

Gene Families for CMC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CMC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z7K0

UniProtKB/Swiss-Prot:

COXM1_HUMAN :
  • Belongs to the CMC family.
Family:
  • Belongs to the CMC family.
genes like me logo Genes that share domains with CMC1: view

Function for CMC1 Gene

Molecular function for CMC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

Phenotypes From GWAS Catalog for CMC1 Gene

Gene Ontology (GO) - Molecular Function for CMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CMC1: view
genes like me logo Genes that share phenotypes with CMC1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CMC1

miRNA for CMC1 Gene

miRTarBase miRNAs that target CMC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMC1 Gene

Localization for CMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMC1 Gene

Mitochondrion. Note=Colocalizes with MT-CO1.

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 CMC1 gene
Compartment Confidence
extracellular 3
mitochondrion 3
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for CMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 23676665
genes like me logo Genes that share ontologies with CMC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CMC1 Gene

Pathways & Interactions for CMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CMC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CMC1 Gene

Drugs & Compounds for CMC1 Gene

(1) Drugs for CMC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 202
genes like me logo Genes that share compounds with CMC1: view

Transcripts for CMC1 Gene

Unigene Clusters for CMC1 Gene

COX assembly mitochondrial protein 1 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CMC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - - - - - - -
SP2: - - - - - -
SP3:
SP4: - - -
SP5: - - - - -
SP6: - - - - - - - -

Relevant External Links for CMC1 Gene

GeneLoc Exon Structure for
CMC1
ECgene alternative splicing isoforms for
CMC1

Expression for CMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CMC1 Gene

Protein differential expression in normal tissues from HIPED for CMC1 Gene

This gene is overexpressed in Liver (7.3) and Bone marrow stromal cell (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMC1 Gene



Protein tissue co-expression partners for CMC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CMC1 Gene:

CMC1

SOURCE GeneReport for Unigene cluster for CMC1 Gene:

Hs.444724

Evidence on tissue expression from TISSUES for CMC1 Gene

  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with CMC1: 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 CMC1 Gene

Orthologs for CMC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CMC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMC1 34 33
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CMC1 34 33
  • 94.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CMC1 34 33
  • 92.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cmc1 16 34 33
  • 89.31 (n)
rat
(Rattus norvegicus)
Mammalia Cmc1 33
  • 88.68 (n)
oppossum
(Monodelphis domestica)
Mammalia CMC1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMC1 34 33
  • 72.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cmc1 33
  • 73.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21066 33
zebrafish
(Danio rerio)
Actinopterygii cmc1 34 33
  • 63.53 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17996 34 33
  • 56.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007922 33
  • 52.98 (n)
Species where no ortholog for CMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 CMC1 Gene

ENSEMBL:
Gene Tree for CMC1 (if available)
TreeFam:
Gene Tree for CMC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CMC1: view image

Paralogs for CMC1 Gene

Pseudogenes.org Pseudogenes for CMC1 Gene

genes like me logo Genes that share paralogs with CMC1: view

No data available for Paralogs for CMC1 Gene

Variants for CMC1 Gene

Sequence variations from dbSNP and Humsavar for CMC1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000025137 -- 28,240,768(+) G/C upstream_transcript_variant
rs1000036405 -- 28,241,079(+) A/T upstream_transcript_variant
rs1000052229 -- 28,242,232(+) T/C/G intron_variant
rs1000056636 -- 28,305,325(+) T/C intron_variant
rs1000056974 -- 28,260,602(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CMC1 Gene

Variant ID Type Subtype PubMed ID
esv3568668 CNV loss 25503493
esv3595684 CNV loss 21293372
esv3893678 CNV loss 25118596
esv996568 OTHER inversion 20482838

Variation tolerance for CMC1 Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CMC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMC1 Gene

Disorders for CMC1 Gene

Additional Disease Information for CMC1

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

No disorders were found for CMC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CMC1 Gene

Publications for CMC1 Gene

  1. Cmc1p is a conserved mitochondrial twin CX9C protein involved in cytochrome c oxidase biogenesis. (PMID: 18443040) Horn D … Barrientos A (Molecular and cellular biology 2008) 2 3 4 58
  2. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. (PMID: 23676665) Fischer M … Riemer J (Molecular biology of the cell 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. A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis. (PMID: 28082314) Bourens M … Barrientos A (EMBO reports 2017) 3 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for CMC1 Gene

Sources for CMC1 Gene

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