TIMM50 - translocase of inner mitochondrial membrane 50 Gene

Also Known as MGCA9; TIM50; TIM50L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92609

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	References	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	References	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	References	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

TIMM50 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82645	TIMM50 Antibody (YA2390)	WB, IHC-P	Human, Mouse

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

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 Set	/	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
Others	TIMM50	NCBI