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Aliases for CMC1 Gene

Aliases for CMC1 Gene

  • C-X9-C Motif Containing 1 2 3
  • C-X(9)-C Motif Containing 1 2 3 5
  • 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

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. Diseases associated with CMC1 include Sturge-Weber Syndrome, Somatic, Mosaic and Capillary Malformations, Congenital, 1, Somatic, Mosaic.

UniProtKB/Swiss-Prot for CMC1 Gene

  • Required for mitochondrial cytochrome c oxidase (COX) assembly and respiration.

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

Genomics for CMC1 Gene

Regulatory Elements for CMC1 Gene

Enhancers for CMC1 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 CMC1 on UCSC Golden Path with GeneCards custom track

Promoters for CMC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CMC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CMC1 Gene

28,241,584 bp from pter
28,325,142 bp from pter
83,559 bases
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:
    Recommended name:
    COX assembly mitochondrial protein homolog
    Protein Accession:
    Secondary Accessions:
    • Q68DJ7

    Protein attributes for CMC1 Gene

    106 amino acids
    Molecular mass:
    12490 Da
    Quaternary structure:
    • Component of some MITRAC complex.

neXtProt entry for CMC1 Gene

Proteomics data for CMC1 Gene at MOPED

Post-translational modifications for CMC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CMC1 Gene

No data available for DME Specific Peptides for CMC1 Gene

Domains & Families for CMC1 Gene

Protein Domains for CMC1 Gene


Suggested Antigen Peptide Sequences for CMC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for CMC1 Gene

Function for CMC1 Gene

Molecular function for CMC1 Gene

UniProtKB/Swiss-Prot Function:
Required for mitochondrial cytochrome c oxidase (COX) assembly and respiration.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for CMC1 Gene COMPARTMENTS Subcellular localization image for CMC1 gene
Compartment Confidence
mitochondrion 4
extracellular 3
nucleus 3
cytosol 1
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for CMC1 Gene

Pathways & Interactions for CMC1 Gene

SuperPathways for CMC1 Gene

No Data Available

Interacting Proteins for CMC1 Gene

Gene Ontology (GO) - Biological Process for CMC1 Gene


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 Pharma 161
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:

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: - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - - - - -

Relevant External Links for CMC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CMC1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CMC1 Gene

SOURCE GeneReport for Unigene cluster for CMC1 Gene Hs.444724

genes like me logo Genes that share expression patterns with CMC1: view

Protein tissue co-expression partners for CMC1 Gene

- Elite partner

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 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
(Bos Taurus)
Mammalia CMC1 35
  • 92.77 (n)
  • 92.45 (a)
CMC1 36
  • 93 (a)
(Canis familiaris)
Mammalia CMC1 35
  • 94.34 (n)
  • 93.4 (a)
CMC1 36
  • 93 (a)
(Mus musculus)
Mammalia Cmc1 35
  • 89.31 (n)
  • 88.68 (a)
Cmc1 16
Cmc1 36
  • 89 (a)
(Pan troglodytes)
Mammalia CMC1 35
  • 99.69 (n)
  • 99.06 (a)
CMC1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cmc1 35
  • 88.68 (n)
  • 89.62 (a)
(Monodelphis domestica)
Mammalia CMC1 36
  • 70 (a)
(Gallus gallus)
Aves CMC1 35
  • 72.11 (n)
  • 67.35 (a)
CMC1 36
  • 62 (a)
(Anolis carolinensis)
Reptilia CMC1 36
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cmc1 35
  • 73.33 (n)
  • 75 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21066 35
(Danio rerio)
Actinopterygii cmc1 35
  • 63.53 (n)
  • 67.06 (a)
cmc1 36
  • 64 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007922 35
  • 52.98 (n)
  • 54.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17996 35
  • 56.23 (n)
  • 63.64 (a)
CG17996 36
  • 53 (a)
Species with no ortholog for CMC1:
  • 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

Gene Tree for CMC1 (if available)
Gene Tree for CMC1 (if available)

Paralogs for CMC1 Gene 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 Sequence Context AA Info Type
rs1058569 -- 28,247,009(-) caaac(C/G)attga intron-variant
rs1130269 -- 28,246,051(-) ccgag(A/G)tgggc intron-variant
rs1913141 -- 28,253,182(-) AAGTG(C/T)TTCAC intron-variant
rs1955312 -- 28,249,444(-) GGTAA(A/G)TATGC intron-variant
rs1955313 -- 28,249,188(-) AATCT(C/T)CCAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv876649 CNV Gain 21882294
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CMC1 Gene

Disorders for CMC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CMC1 Gene - From: OMIM

Disorder Aliases PubMed IDs
sturge-weber syndrome, somatic, mosaic
  • sturge-weber syndrome
capillary malformations, congenital, 1, somatic, mosaic
  • strawberry nevus of skin
- elite association - COSMIC cancer census association via MalaCards
Search CMC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CMC1: view

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

Publications for CMC1 Gene

  1. Cmc1p is a conserved mitochondrial twin CX(9)C protein involved in cytochrome c oxidase biogenesis. (PMID: 18443040) Horn D. … Barrientos A. (Mol. Cell. Biol. 2008) 2 3 4 67
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CMC1 Gene

Sources for CMC1 Gene