2. Gene
  3. TIMM50 - translocase of inner mitochondrial membrane 50 Gene

TIMM50 - translocase of inner mitochondrial membrane 50 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：线粒体内膜转位酶 50

种属: Homo sapiens

同用名: MGCA9; TIM50; TIM50L

基因 ID: 92609 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 TIM23 线粒体内膜转位酶复合物的一个亚基。编码的蛋白质充当受体亚基，识别线粒体靶向信号或前序，蛋白质货物运往线粒体内膜和基质。这种蛋白质也可能在维持膜通透性屏障方面发挥作用，在人类细胞中敲低这种基因会导致细胞色素 c 的释放和细胞凋亡。[RefSeq 提供，2016 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cysteine-type endopeptidase activator activity IDA
IDA: 通过直接分析推断
32848200 GOA
enables interleukin-2 receptor binding IDA
IDA: 通过直接分析推断
15044455 GOA
enables phosphoprotein phosphatase activity IDA
IDA: 通过直接分析推断
15044455 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12620389 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
15044455 GOA
enables protein tyrosine phosphatase activity IDA
IDA: 通过直接分析推断
15044455 GOA
enables ribonucleoprotein complex binding IDA
IDA: 通过直接分析推断
16008839 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial membrane organization IMP
IMP: 通过突变表型推断
15044455 GOA
involved in protein dephosphorylation IDA
IDA: 通过直接分析推断
15044455 GOA
acts upstream of or within release of cytochrome c from mitochondria IDA
IDA: 通过直接分析推断
15044455 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in Golgi apparatus IDA
IDA: 通过直接分析推断
32848200 GOA
part of TIM23 mitochondrial import inner membrane translocase complex IDA
IDA: 通过直接分析推断
30598479 GOA
part of TIM23 mitochondrial import inner membrane translocase complex IPI
IPI: 通过物理相互作用推断
15044455 GOA
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
32848200 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
15044455 GOA
is active in mitochondrion IDA
IDA: 通过直接分析推断
32848200 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
16008839 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TIMM50 蛋白结构

NIF

NIF: NLI interacting factor-like phosphatase (148 - 295)

  • 0
  • 100
  • 200
  • 300
  • 353 a.a.
蛋白主名 其他名称

mitochondrial import inner membrane translocase subunit TIM50

Tim50-like protein

TIMM50 抗体

目录号 产品名 应用 反应物种
HY-P82645 TIMM50 Antibody (YA2390) WB, IHC-P Human, Mouse

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14533 TIMM50 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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