Aliases for CMC1 Gene

Aliases for CMC1 Gene

  • C-X9-C Motif Containing 1 2 3 5
  • COX Assembly Mitochondrial Protein Homolog 3 4
  • 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
  • Chromosome 3 Open Reading Frame 68 2
  • MGC61571 2
  • CMC1 5

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 Summary for CMC1 Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMC1 Gene

Genomics for CMC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 704 4.5 CREB1 GATAD2A PRDM10 REST IKZF1 ZNF692 POLR2A ZNF7 JUND FOXA1 CMC1 NONHSAG034650.2 SLC4A7 HSALNG0024843 piR-38351-297 ZCWPW2
GH03J027449 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 9.5 -787.1 -787104 9.8 GATAD2A ATF7 RCOR2 ZNF7 FOXA1 RXRB IRF2 CEBPA KMT2B SOX13 SLC4A7 NEK10 CMC1 LINC02084 RPS20P15 lnc-LRRC3B-3 lnc-NEK10-4
GH03J028287 Enhancer 0.8 Ensembl ENCODE 11.4 +45.3 45344 1.1 CTCF RAD21 IKZF2 ZNF24 TRIM22 PKNOX1 ARID3A RELB SMARCA5 ZNF444 CMC1 piR-38351-297 lnc-EOMES-5 NONHSAG034650.2 ZCWPW2
GH03J028326 Enhancer 0.9 Ensembl ENCODE 10.7 +85.0 85017 2.4 TCF12 IKZF2 TRIM22 PKNOX1 SIN3A ARID3A DPF2 RELB RUNX3 GATAD2B lnc-EOMES-5 ZCWPW2 AZI2 CMC1 piR-38351-297
GH03J028139 Enhancer 0.9 Ensembl ENCODE 10.3 -101.4 -101434 0.7 GATAD2A SOX13 RXRB CEBPA ZBTB26 SMARCC2 FOXA2 MAFF CREB1 MAFK LOC105377008 lnc-AZI2-1 CMC1 EOMES
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CMC1

Top Transcription factor binding sites by QIAGEN in the CMC1 gene promoter:
  • AML1a
  • c-Myb
  • GATA-2
  • HOXA3
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • YY1

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)
Size:
83,559 bases
Orientation:
Plus strand

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

Protein Domains for CMC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMC1 Gene

GenScript: Design optimal peptide antigens:
  • COX assembly mitochondrial protein homolog (COXAM_HUMAN)

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

CRISPR Products

miRNA for CMC1 Gene

miRTarBase miRNAs that target CMC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMC1

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
mitochondrion 5
nucleus 3
extracellular 2
cytosol 0

Gene Ontology (GO) - Cellular Components for CMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,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

PathCards logo

SuperPathways 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 249
genes like me logo Genes that share compounds with CMC1: view

Transcripts for CMC1 Gene

mRNA/cDNA for CMC1 Gene

6 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMC1

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

Expression for CMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CMC1 30 31
  • 94.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CMC1 30 31
  • 92.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cmc1 30 17 31
  • 89.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cmc1 30
  • 88.68 (n)
Oppossum
(Monodelphis domestica)
Mammalia CMC1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CMC1 30 31
  • 72.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CMC1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cmc1 30
  • 73.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21066 30
Zebrafish
(Danio rerio)
Actinopterygii cmc1 30 31
  • 63.53 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG17996 30 31
  • 56.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007922 30
  • 52.98 (n)
Species where no ortholog for CMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Additional dbSNP identifiers (rs#s) for CMC1 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP 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
Open Targets Platform

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
  2. A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis. (PMID: 28082314) Bourens M … Barrientos A (EMBO reports 2017) 2 3
  3. 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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for CMC1 Gene

Sources for CMC1 Gene