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:
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.
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.
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.
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
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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.