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    TIMM50 translocase of inner mitochondrial membrane 50 [ Homo sapiens (human) ]

    Gene ID: 92609, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TIMM50provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 50provided by HGNC
    Primary source
    HGNC:HGNC:23656
    See related
    Ensembl:ENSG00000105197 MIM:607381; AllianceGenome:HGNC:23656
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGCA9; TIM50; TIM50L
    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 mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 9.8), thyroid (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TIMM50 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39480838..39493779)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42285093..42298036)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39971478..39984419)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39925783-39926362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39928026-39928794 Neighboring gene ribosomal protein S16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39935465-39936262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39936263-39937059 Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene small nucleolar RNA, C/D box 175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39971166-39971760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14623 Neighboring gene uncharacterized LOC124904718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39988291-39989283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10610 Neighboring gene delta like canonical Notch ligand 3 Neighboring gene Sharpr-MPRA regulatory region 12203 Neighboring gene selenoprotein V

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation. Mir A, et al. Clin Genet, 2020 Jul. PMID 32369862
    2. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Tort F, et al. Hum Mutat, 2019 Oct. PMID 31058414
    3. TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients. Zhang X, et al. Mol Carcinog, 2019 May. PMID 30604908
    4. Expression and structural characterization of human translocase of inner membrane of mitochondria Tim50. Zhang Y, et al. Protein Expr Purif, 2011 Nov. PMID 21742040
    5. Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis. Bose HS, et al. Mol Cell Biol, 2019 Jan 1. PMID 30348838, Free PMC Article

    See all (203) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
      Title: Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    2. Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
      Title: Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
    3. MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.
      Title: MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.
    4. TIMM50 deficiency causes a severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology, such as the maintenance of proper mitochondrial morphology, OXPHOS assembly, and mitochondrial respiratory capacity.
      Title: Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
    5. Amino acid changes that suppress the association of Tim50 with Cytochrome P450 side-chain cleavage enzyme ablate metabolic activity.
      Title: Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis.
    6. High TIMM50 expression is associated with non-small cell lung cancer progression.
      Title: TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients.
    7. These results indicate that mutations in TIMM50 cause multiple mitochondrial bioenergetic dysfunction and that functional TIMM50 is essential for cell survival in OxPhos-dependent conditions.
      Title: Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.
    8. Expression of TIM50 was downregulated in hypertrophic hearts.
      Title: Translocase of Inner Membrane 50 Functions as a Novel Protective Regulator of Pathological Cardiac Hypertrophy.
    9. Missense mutations in TIMM50 are likely manifesting by severe intellectual disability and epilepsy accompanied by 3-methylglutaconic aciduria and variable mitochondrial complex V deficiency.
      Title: Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
    10. TIM50 has a role in regulating cell proliferation and apoptosis through decreasing mitochondrial membrane potential in breast cancer cell
      Title: Loss of TIM50 suppresses proliferation and induces apoptosis in breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    3-methylglutaconic aciduria type 9
    MedGen: C4540171 OMIM: 617698 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102733

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cysteine-type endopeptidase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables interleukin-2 receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TIM23 mitochondrial import inner membrane translocase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TIM23 mitochondrial import inner membrane translocase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TIM23 mitochondrial import inner membrane translocase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of TIM23 mitochondrial import inner membrane translocase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit TIM50
    Names
    Tim50-like protein
    homolog of yeast Tim50

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051245.1 RefSeqGene

      Range
      5427..18368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001563.5 → NP_001001563.2  mitochondrial import inner membrane translocase subunit TIM50 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC011500, AK098197, BC014674, BC050082, BI856163, BM463473, BU540967
      Consensus CDS
      CCDS33023.2
      UniProtKB/Swiss-Prot
      Q330K1, Q3ZCQ8, Q6QA00, Q96FJ5, Q96GY2, Q9H370
      Related
      ENSP00000475531.1, ENST00000607714.6
      Conserved Domains (1) summary
      cd07521
      Location:147 → 262
      HAD_FCP1-like; human CTD phosphatase subunit 1 (CTDP1/FCP1) and related proteins; belongs to the haloacid dehalogenase-like superfamily

    2. NM_001329559.2 → NP_001316488.1  mitochondrial import inner membrane translocase subunit TIM50 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, uses a downstream translation start site and lacks an alternate in-frame exon in its 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC011500, BC014674, BC050082, BC121146
      UniProtKB/Swiss-Prot
      Q3ZCQ8
      Conserved Domains (1) summary
      cd07521
      Location:34 → 149
      HAD_FCP1-like; human CTD phosphatase subunit 1 (CTDP1/FCP1) and related proteins; belongs to the haloacid dehalogenase-like superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      39480838..39493779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527491.4 → XP_011525793.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X1

      Conserved Domains (1) summary
      pfam03031
      Location:136 → 283
      NIF; NLI interacting factor-like phosphatase

    2. XM_047439681.1 → XP_047295637.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42285093..42298036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322612.1 → XP_054178587.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X1

    2. XM_054322613.1 → XP_054178588.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCQ8.2 GenPept UniProtKB/Swiss-Prot:Q3ZCQ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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