TIMM50 - translocase of inner mitochondrial membrane 50 Gene

Homo sapiens

Also known as MGCA9; TIM50; TIM50L

Gene ID: 92609 | Gene type: protein coding

About TIMM50

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,480,838-39,493,779 (from NCBI)

This gene has 19 transcripts (splice variants), 201 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 9.8), thyroid (RPKM 6.2) and 25 other tissues.

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]

TIMM50 Products(2)

mRNA	Protein	Name
NM_001001563.5	NP_001001563.2	mitochondrial import inner membrane translocase subunit TIM50 isoform 1
NM_001329559.2	NP_001316488.1	mitochondrial import inner membrane translocase subunit TIM50 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cysteine-type endopeptidase activator activity	IDA IDA: Inferred from direct assay	32848200	GOA
enables interleukin-2 receptor binding	IDA IDA: Inferred from direct assay	15044455	GOA
enables phosphoprotein phosphatase activity	IDA IDA: Inferred from direct assay	15044455	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	15044455	GOA
enables protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	15044455	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	16008839	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial membrane organization	IMP IMP: Inferred from mutant phenotype	15044455	GOA
involved in protein dephosphorylation	IDA IDA: Inferred from direct assay	15044455	GOA
acts upstream of or within release of cytochrome c from mitochondria	IDA IDA: Inferred from direct assay	15044455	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in Golgi apparatus	IDA IDA: Inferred from direct assay	32848200	GOA
part of TIM23 mitochondrial import inner membrane translocase complex	IDA IDA: Inferred from direct assay	30598479	GOA
part of TIM23 mitochondrial import inner membrane translocase complex	IPI IPI: Inferred from physical interaction	15044455	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	32848200	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	15044455	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	32848200	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	16008839	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMM50 Protein Structure

NIF

0
100
200
300
353 a.a.

Protein Preferred Names

Protein Names

mitochondrial import inner membrane translocase subunit TIM50

Tim50-like protein

Related Diseases

Diseases

Alias

3-Methylglutaconic Aciduria, Type Ix

3-Methylglutaconic Aciduria Type 9	MGCA9
3-Methylglutaconic Acuduria Type Ix, Mgca9	3-Methylglutaconic Aciduria-Epilepsy-Spasticity-Severe Intellectual Disability Syndrome
Mga9	3-Methylglutaconic Aciduria 9

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia

3-Methylglutaconic Aciduria Type 7	Mga7
3-Methylglutaconic Aciduria Type Vii	Megcann
Mgca7	3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia

Combined Oxidative Phosphorylation Deficiency 31

Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome

COXPD31

3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5	Mga5
MGCA5	Dcma
Dcma Syndrome	Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic Aciduria Type V	Mga Type V
Cardiomyopathy, Dilated, With Ataxia	Mga, Type V
Dilated Cardiomyopathy With Ataxia Syndrome	Dnajc19 Defect
3-Methylglutaconic Aciduria 5	3-Alpha-Methylglutaconic Aciduria Type 5
3-@Methylglutaconic Aciduria, Type V

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

SMDMDM	Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type	Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type
Chondrodysplasia, Megarbane-Dagher-Melki Type	Megarbane-Dagher-Melike Type Chondrodysplasia
Chondrodysplasia, Megarbane-Dagher-Melike Type	Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10	Cardiomyopathy And Cataract
Cataract And Cardiomyopathy	MTDPS10
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
Senger Syndrome

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdel Syndrome	MEGDEL
Mgca6	3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
Megdhel	3-Methylglutaconic Aciduria, Type Vi
Serac1 Defect	3-Methylglutaconic Aciduria Type 6
3-Mgca Type Iv	3-Mgca-4
3-Methylglutaconic Aciduria Type Vi	3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
Megdhel Syndrome	3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x	Cmtx4
Cowchock Syndrome	X-Linked Charcot-Marie-Tooth Disease Type 4
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation	Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
Nadmr	Namsd

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

3-Methylglutaconic Aciduria, Type I

3-Methylglutaconyl-Coa Hydratase Deficiency	3-Methylglutaconic Aciduria Type 1
Mga1	MGCA1
3mg-Coa Hydratase Deficiency	Mga Type I
Mga, Type I	3-Mg-Coa-Hydratase Deficiency
3 Methylglutaconyl Coa Hydratase Deficiency	3-Methylglutaconic Aciduria Type I
3 Alpha Methylglutaconic Aciduria Type I	3 Methylglutaconic Aciduria Type 1
3-Mgca Type I	3mg Coa Hydratase Deficiency
Auh Defect	Primary 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 1	3-Alpha-Methylglutaconic Aciduria Type 1
3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency	3-@Methylglutaconic Aciduria, Type I
Megaloblastic Anemia Due To Inborn Errors Of Metabolism

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14533	TIMM50 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TIMM50	VGNC	VGNC:49147
Rattus norvegicus	TIMM50	RGD	RGD:1587684
Canis familiaris	TIMM50	VGNC	VGNC:49032
Mus musculus	TIMM50	MGD	MGI:1913775

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