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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Expression of TIM50 was downregulated in hypertrophic hearts.
Title: Translocase of Inner Membrane 50 Functions as a Novel Protective Regulator of Pathological Cardiac Hypertrophy.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46041 (e-PCR)
- UniSTS:92202

D19S575 (e-PCR)
- UniSTS:149824

RH79802 (e-PCR)
- UniSTS:88688

RH80030 (e-PCR)
- UniSTS:87680

A007E39 (e-PCR)
- UniSTS:56771

GDB:631802 (e-PCR)
- UniSTS:158429

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 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

NG_051245.1 RefSeqGene

Range

5427..18368

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

39480838..39493779

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

42285093..42298036

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322612.1 → XP_054178587.1 mitochondrial import inner membrane translocase subunit TIM50 isoform X1
XM_054322613.1 → XP_054178588.1 mitochondrial import inner membrane translocase subunit TIM50 isoform X2