2. Gene
  3. TIMM13 - translocase of inner mitochondrial membrane 13 Gene

TIMM13 - translocase of inner mitochondrial membrane 13 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 13

种属: Homo sapiens

同用名: ppv1; TIM13; TIM13B; TIMM13A; TIMM13B

基因 ID: 26517 | 基因类型: protein coding

关于 TIMM13

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,425,625-2,427,586 (from NCBI)

This gene has 2 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in kidney (RPKM 14.4), colon (RPKM 14.1) and 25 other tissues.

功能概要

该基因编码进化上保守的 TIMM (线粒体内膜转位酶) 蛋白质家族的成员，该蛋白质家族在将蛋白质从细胞质输入线粒体内膜中起伴侣作用。该家族的蛋白质在从线粒体外膜 (TOM) 复合体的转位酶收集底物蛋白并将它们递送至线粒体外膜 (SAM) 复合体中的分选和组装机器或线粒体内部的 TIMM22 复合体中发挥作用膜。编码的蛋白质和线粒体内膜 8a 蛋白的转位酶在膜间隙形成一个 70 kDa 的复合物。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]

TIMM13 基因产物(1)

mRNA Protein Name
NM_012458.4 NP_036590.1 mitochondrial import inner membrane translocase subunit Tim13
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11956200 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
24746669 GOA
part of mitochondrial intermembrane space protein transporter complex IPI
IPI: 通过物理相互作用推断
11956200 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

TIMM13 蛋白结构

zf-Tim10_DDP

zf-Tim10_DDP: Tim10/DDP family zinc finger (23 - 87)

  • 0
  • 95 a.a.
蛋白主名 其他名称

mitochondrial import inner membrane translocase subunit Tim13

mitochondrial import inner membrane translocase subunit Tim13B

TIMM13 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TIMM13 Q9Y5L4 TIMM8A Homo sapiens O60220
Anti Bait CoIP
17353931
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
Visual Cortex Disease

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex
Visual Pathway Disease

Disorder Of Visual Pathways
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy

Dominant Optic Atrophy Plus Syndrome

DOA+

Adoa

Autosomal Dominant Optic Atrophy

Doa

Optic Atrophy Plus Syndrome

Dominant Optic Atrophy

Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy

Optic Atrophy, Dominant

3-Methylglutaconic Aciduria Type 3

Optic Atrophy, Autosomal Dominant
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Cortical Blindness

Blindness, Cortical
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, 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
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-RS14528 TIMM13 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus TIMM13 VGNC VGNC:52893
Felis catus TIMM13 VGNC VGNC:102715
Mus musculus TIMM13 MGD MGI:1353432
Rattus norvegicus TIMM13 RGD RGD:628845
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