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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. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

Chromosome:
3
Start:
28,241,584 bp from pter
End:
28,325,142 bp from pter
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 some MITRAC complex.

neXtProt entry for CMC1 Gene

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

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

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.

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

Clone Products

Flow Cytometry 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
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

Gene Ontology (GO) - Cellular Components for CMC1 Gene

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

Pathways & Interactions for CMC1 Gene

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 Pharma 166
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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
cow
(Bos Taurus)
Mammalia CMC1 34
  • 92.77 (n)
  • 92.45 (a)
CMC1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CMC1 34
  • 94.34 (n)
  • 93.4 (a)
CMC1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cmc1 34
  • 89.31 (n)
  • 88.68 (a)
Cmc1 16
Cmc1 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CMC1 34
  • 99.69 (n)
  • 99.06 (a)
CMC1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cmc1 34
  • 88.68 (n)
  • 89.62 (a)
oppossum
(Monodelphis domestica)
Mammalia CMC1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMC1 34
  • 72.11 (n)
  • 67.35 (a)
CMC1 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMC1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cmc1 34
  • 73.33 (n)
  • 75 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21066 34
zebrafish
(Danio rerio)
Actinopterygii cmc1 34
  • 63.53 (n)
  • 67.06 (a)
cmc1 35
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007922 34
  • 52.98 (n)
  • 54.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17996 34
  • 56.23 (n)
  • 63.64 (a)
CG17996 35
  • 53 (a)
OneToOne
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)

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 Sequence Context AA Info Type
rs952888 -- 28,297,975(+) GTGCT(C/T)CAGTC intron-variant
rs1058569 -- 28,247,009(-) caaac(C/G)attga intron-variant
rs4585155 -- 28,280,095(+) tgtac(A/G)acagt intron-variant
rs4642078 -- 28,278,353(+) TCTTA(C/T)TAATT intron-variant
rs4680747 -- 28,245,873(+) GACAT(C/G)TAAAC 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)

Relevant External Links for CMC1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • capillary malformations, congenital
- 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)
CMC1
Human Genome Epidemiology (HuGE) Navigator
CMC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMC1
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 65
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 65
  4. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick D.U. … Rehling P. (Cell 2012) 4 65
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 65

Products for CMC1 Gene

Sources for CMC1 Gene

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