MTCH1 (mitochondrial carrier 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23787 |
| Gene name | Mitochondrial carrier 1 |
| Gene symbol | MTCH1 |
| Synonyms (NCBI Gene) |
CGI-64PIG60PSAPSLC25A49
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| Chromosome | 6 |
| Chromosome location | 6p21.2 |
| Summary | This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been |
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miRNA
miRNA information provided by mirtarbase database.
288
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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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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Q9NZJ7 | ||||||||||
| Protein name | Mitochondrial carrier homolog 1 (Presenilin-associated protein) | ||||||||||
| Protein function | Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and mul | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed with a predominant expression in brain. {ECO:0000269|PubMed:10551805}. | ||||||||||
| Sequence |
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| Sequence length | 389 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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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