TIMM50 (translocase of inner mitochondrial membrane 50)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 92609
Gene name Translocase of inner mitochondrial membrane 50
Gene symbol TIMM50
Synonyms (NCBI Gene)
MGCA9TIM50TIM50L
Chromosome 19
Chromosome location 19q13.2
Summary This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs35135520 C>A,G,T Benign, pathogenic Coding sequence variant, stop gained, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs776019250 G>C,T Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs797044891 G>A Pathogenic Missense variant, coding sequence variant
rs1244226820 C>T Pathogenic Coding sequence variant, missense variant
rs1300848445 C>T Pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
458
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (458)
miRTarBase ID miRNA Experiments Reference
MIRT016403 hsa-miR-193b-3p Proteomics 21512034
MIRT025669 hsa-miR-7-5p Microarray 19073608
MIRT052037 hsa-let-7b-5p CLASH 23622248
MIRT051530 hsa-let-7e-5p CLASH 23622248
MIRT046584 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IDA 15044455
GO:0003723 Function RNA binding IEA
GO:0004721 Function Phosphoprotein phosphatase activity IDA 15044455
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 15044455
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607381 23656 ENSG00000105197
Protein Protein information from UniProt database.
Gene SNPs 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.
Q3ZCQ8
Protein name Mitochondrial import inner membrane translocase subunit TIM50
Protein function Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:30190335, PubMed:38828998). Has some phosphatase activity in vitro; howeve
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03031 NIF 148 → 295 NLI interacting factor-like phosphatase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level). {ECO:0000269|PubMed:15044455, ECO:0000269|PubMed:16008839}.
Sequence 
MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGSTKAQGPQQQPGSEGP
SYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEFDNDPILVQQLRRTYKYFK
DYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLHPEWSLATGWRFKKRPGIETL
FQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDATRYMDGHHVKDISCLNRD
PARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSAFLKTIALNGVEDVRTVLEH
YALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLGSLTSRLWPRSKQP
Sequence length 353
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3-methylglutaconic aciduria type 9 Likely pathogenic; Pathogenic rs1457024558, rs797044891, rs1244226820, rs1305711807, rs776019250, rs35135520 RCV002308496
RCV001812182
RCV000509024
RCV000578358
RCV001328001
RCV001328000
Mitochondrial encephalopathy Pathogenic rs776019250, rs35135520 RCV000677433
RCV000677434
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs45575734 RCV005921539
Cervical cancer Benign; Uncertain significance rs45575734, rs11545196 RCV005921542
RCV005924248
Familial cancer of breast - rs1470199505 RCV005931748
Gastric cancer Benign rs45575734 RCV005921545
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Associate 27573165
Brain Diseases Associate 30190335
Breast Neoplasms Stimulate 21621504
Breast Neoplasms Associate 26289846
Developmental Disabilities Associate 27573165, 35019165
Endometrial Neoplasms Associate 37259038
Epilepsy Associate 27573165
Esophageal Neoplasms Associate 32130753
Intellectual Disability Associate 27573165, 35019165
Leigh Syndrome due to Mitochondrial Complex V Deficiency Associate 27573165