Human Gene CMC1 (uc003cea.3) Description and Page Index
  Description: Homo sapiens COX assembly mitochondrial protein 1 homolog (S. cerevisiae) (CMC1), nuclear gene encoding mitochondrial protein, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr3:28,283,124-28,361,263 Size: 78,140 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr3:28,283,285-28,361,120 Size: 77,836 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:28,283,124-28,361,263)mRNA (may differ from genome)Protein (106 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: COXM1_HUMAN
DESCRIPTION: RecName: Full=COX assembly mitochondrial protein homolog; Short=Cmc1p;
FUNCTION: Required for mitochondrial cytochrome c oxidase (COX) assembly and respiration. Binds copper. May be involved in copper trafficking and distribution to COX and SOD1 (By similarity).
SUBCELLULAR LOCATION: Mitochondrion. Note=Colocalizes with MT-CO1.
SIMILARITY: Belongs to the CMC family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CMC1
CDC HuGE Published Literature: CMC1
Positive Disease Associations: Body Mass Index
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.87 RPKM in Spleen
Total median expression: 152.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.52161-0.401 Picture PostScript Text
3' UTR -28.10143-0.197 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013892 - Cyt_c_biogenesis_Cmc1-like

Pfam Domains:
PF06986 - Type-1V conjugative transfer system mating pair stabilisation
PF08583 - Cytochrome c oxidase biogenesis protein Cmc1 like

ModBase Predicted Comparative 3D Structure on Q7Z7K0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046872 metal ion binding

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  CR749370 - Homo sapiens mRNA; cDNA DKFZp779D0833 (from clone DKFZp779D0833).
BX648671 - Homo sapiens mRNA; cDNA DKFZp686B0247 (from clone DKFZp686B0247).
BC052644 - Homo sapiens COX assembly mitochondrial protein homolog (S. cerevisiae), mRNA (cDNA clone MGC:61571 IMAGE:6163781), complete cds.
HQ448584 - Synthetic construct Homo sapiens clone IMAGE:100072022; CCSB011909_01 hypothetical protein MGC61571 (C3orf68) gene, encodes complete protein.
KJ895669 - Synthetic construct Homo sapiens clone ccsbBroadEn_05063 CMC1 gene, encodes complete protein.
JD241610 - Sequence 222634 from Patent EP1572962.
JD160083 - Sequence 141107 from Patent EP1572962.
JD143226 - Sequence 124250 from Patent EP1572962.
JD442805 - Sequence 423829 from Patent EP1572962.
JD456453 - Sequence 437477 from Patent EP1572962.
JD361408 - Sequence 342432 from Patent EP1572962.
AF086095 - Homo sapiens full length insert cDNA clone YZ88A07.

-  Other Names for This Gene
  Alternate Gene Symbols: C3orf68, COXM1_HUMAN, NM_182523, NP_872329, Q68DJ7, Q7Z7K0
UCSC ID: uc003cea.3
RefSeq Accession: NM_182523
Protein: Q7Z7K0 (aka COXM1_HUMAN)
CCDS: CCDS33722.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_182523.1
exon count: 4CDS single in 3' UTR: no RNA size: 640
ORF size: 321CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 842.00frame shift in genome: no % Coverage: 97.66
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.