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

Gene ID: 92609, updated on 13-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39480838..39493779)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42285093..42298036)
105.20220307 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
  • 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. 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
  5. Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions. Reyes A, et al. EMBO Mol Med, 2018 Oct. PMID 30190335, Free PMC Article

See all (172) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 
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_2023_10

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

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