Gene Gene information from NCBI Gene database.
Entrez ID 23787
Gene name Mitochondrial carrier 1
Gene symbol MTCH1
Synonyms (NCBI Gene)
CGI-64PIG60PSAPSLC25A49
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
miRNA miRNA information provided by mirtarbase database.
288
miRTarBase ID miRNA Experiments Reference
MIRT022610 hsa-miR-124-3p Microarray 18668037
MIRT052714 hsa-miR-1260b CLASH 23622248
MIRT493074 hsa-miR-142-3p PAR-CLIP 23592263
MIRT493074 hsa-miR-142-3p PAR-CLIP 23592263
MIRT493072 hsa-miR-548n PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10551805
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion IMP 12377771
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610449 17586 ENSG00000137409
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00153 Mito_carr 191 282 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with a predominant expression in brain. {ECO:0000269|PubMed:10551805}.
Sequence
MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQP
SARRMDGGSGGLGSGDNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTN
VLGRKVLYLPSFFTYAKYIVQVDGKIGLFRGLSPRLMSNALSTVTRGSMKKVFPPDEIEQ
VSNKDDMKTSLKKVVKETSYEMMMQCVSRMLAHPLHVISMRCMVQFVGREAKYSGVLSSI
GKIFKEEGLLGFFVGLIPHLLGDVVFLWGCNLLAHFINAYLV
DDSVSDTPGGLGNDQNPG
SQFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDLMAVNNCGLQAGLPPYSPVFKSWIHCW
KYLSVQGQLFRGSSLLFRRVSSGSCFALE
Sequence length 389
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 34195286
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 34195286
★☆☆☆☆
Found in Text Mining only