CMC1 (C-X9-C motif containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 152100
Gene name C-X9-C motif containing 1
Gene symbol CMC1
Synonyms (NCBI Gene)
C3orf68cmc1p
Chromosome 3
Chromosome location 3p24.1
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT032230 hsa-let-7b-5p Proteomics 18668040
MIRT2202302 hsa-miR-1200 CLIP-seq
MIRT2202303 hsa-miR-3140-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 23676665
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615166 28783 ENSG00000187118
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7K0
Protein name COX assembly mitochondrial protein homolog (Cmc1p)
Protein function Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08583 Cmc1 19 → 87 Cytochrome c oxidase biogenesis protein Cmc1 like Family
Sequence
Sequence length 106
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Uncertain significance rs771878791 RCV005932311
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Glioma Associate 37091853
Intracranial Arteriovenous Malformations Associate 14639529
Kashin Beck Disease Associate 40507958
Neoplasms Associate 40367012
Urinary Bladder Neoplasms Associate 40367012