Timm50 translocase of inner mitochondrial membrane 50 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Timm50provided by MGI
Official Full Name: translocase of inner mitochondrial membrane 50provided by MGI
Primary source: MGI:MGI:1913775
See related: Ensembl:ENSMUSG00000003438 AllianceGenome:MGI:1913775
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TIM50L; 2810403L02Rik
Summary: Predicted to enable several functions, including cysteine-type endopeptidase activator activity; interleukin-2 receptor binding activity; and phosphoprotein phosphatase activity. Predicted to be involved in mitochondrial membrane organization; protein dephosphorylation; and protein import into mitochondrial matrix. Predicted to act upstream of or within release of cytochrome c from mitochondria. Located in mitochondrion. Is expressed in several structures, including adrenal gland; alimentary system; cerebral cortex; olfactory epithelium; and submandibular gland primordium. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 9. Orthologous to human TIMM50 (translocase of inner mitochondrial membrane 50). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 30.4), ovary adult (RPKM 29.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 16.67 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (28004947..28011517, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (28305516..28312046, complement)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TIM50 deficiency increased heart and cardiomyocyte size with more severe cardiac fibrosis compared with wild-type littermates. In cardiomyocyte-specific TIM50 transgenic mice, the hypertrophic and fibrotic phenotypes were all alleviated.
Title: Translocase of Inner Membrane 50 Functions as a Novel Protective Regulator of Pathological Cardiac Hypertrophy.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activator activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables interleukin-2 receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein serine/threonine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein tyrosine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribonucleoprotein complex binding	IEA Inferred from Electronic Annotation more info
enables ribonucleoprotein complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
part_of TIM23 mitochondrial import inner membrane translocase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit TIM50

Names: translocase of inner mitochondrial membrane 50 homolog

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.