CMC1 (C-X9-C motif containing 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152100
Gene name Gene Name - the full gene name approved by the HGNC.
C-X9-C motif containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CMC1
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf68, cmc1p
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615166 28783 ENSG00000187118
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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