PTCD1 (pentatricopeptide repeat domain 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 26024 |
| Gene name | Pentatricopeptide repeat domain 1 |
| Gene symbol | PTCD1 |
| Synonyms (NCBI Gene) |
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| Chromosome | 7 |
| Chromosome location | 7q22.1 |
| Summary | This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurrin |
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miRNA
miRNA information provided by mirtarbase database.
525
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O75127 | |||||||||||||||
| Protein name | Pentatricopeptide repeat-containing protein 1, mitochondrial | |||||||||||||||
| Protein function | Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Also affects the 3'-processing of mitochondrial tRNAs. {ECO:0000269|PubMed:21857155 | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Abundant in testes, skeletal muscle and heart. {ECO:0000269|PubMed:19651879}. | |||||||||||||||
| Sequence |
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| Sequence length | 700 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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