2. Gene
  3. CHCHD4 - coiled-coil-helix-coiled-coil-helix domain containing 4 Gene

CHCHD4 - coiled-coil-helix-coiled-coil-helix domain containing 4 Gene

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

中文名称：含卷曲-卷曲-螺旋-卷曲-卷曲-螺旋结构域 4

种属: Homo sapiens

同用名: MIA40; TIMM40

基因 ID: 131474 | 基因类型: protein coding

关于 CHCHD4

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,112,077-14,124,870 (from NCBI)

This gene has 3 transcripts (splice variants) and 251 orthologues. Ubiquitous expression in kidney (RPKM 8.0), duodenum (RPKM 6.4) and 25 other tissues.

功能概要

CCHHD4 是人类线粒体的一个组成部分，属于一个蛋白质家族，其成员共享 6 个高度保守的半胱氨酸残基，构成 C 末端的 -CXC-CX (9) C-CX (9) C- 基序 (Hofmann 等人，2005 年) [PubMed 16185709]) .[OMIM 提供，2008 年 3 月]

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

CHCHD4 基因产物(2)

mRNA Protein Name
NM_001098502.2 NP_001091972.1 mitochondrial intermembrane space import and assembly protein 40 isoform 1
NM_144636.3 NP_653237.1 mitochondrial intermembrane space import and assembly protein 40 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 protein binding IPI
IPI: 通过物理相互作用推断
19182799 GOA
enables protein-disulfide reductase activity IDA
IDA: 通过直接分析推断
26387864 GOA
enables protein-disulfide reductase activity IMP
IMP: 通过突变表型推断
19182799 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 'de novo' post-translational protein folding IMP
IMP: 通过突变表型推断
21059946 GOA
involved in mitochondrial respiratory chain complex assembly IMP
IMP: 通过突变表型推断
26004228 GOA
involved in peptidyl-cysteine oxidation IMP
IMP: 通过突变表型推断
23676665 GOA
involved in protein folding IMP
IMP: 通过突变表型推断
37159021 GOA
involved in protein import into mitochondrial intermembrane space IMP
IMP: 通过突变表型推断
23676665 GOA
involved in protein maturation by protein folding IMP
IMP: 通过突变表型推断
21059946 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
26004228 GOA
is active in mitochondrial intermembrane space IMP
IMP: 通过突变表型推断
37159021 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
23676665 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

CHCHD4 蛋白结构

CHCH

CHCH: CHCH domain (64 - 100)

  • 0
  • 100
  • 142 a.a.
蛋白主名 其他名称

mitochondrial intermembrane space import and assembly protein 40

coiled-coil-helix-coiled-coil-helix domain-containing protein 4

CHCHD4 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
CHCHD4 Q8N4Q1 MICU1 Homo sapiens Q9BPX6
Anti Bait CoIP
26387864
种属内
CHCHD4 Q8N4Q1 MICU1 Homo sapiens Q9BPX6
Anti Tag CoIP
26387864
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
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
Mitochondrial Dna Depletion Syndrome 9

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile
Combined Oxidative Phosphorylation Deficiency 6

Severe X-Linked Mitochondrial Encephalomyopathy

COXPD6

Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6

Mitochondrial Encephalomyopathy Due To Coxpd6

Encephalomyopathy, Mitochondrial, X-Linked

Encephalomyopathy Mitochondrial X-Linked

Oxidative Phosphorylation Deficiency, Combined, Type 6
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
Charcot-Marie-Tooth Disease Type X
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
Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS02601 CHCHD4 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CHCHD4 MGD MGI:1919420
Canis familiaris CHCHD4 VGNC VGNC:39196
Bos taurus CHCHD4 VGNC VGNC:27273
Rattus norvegicus CHCHD4 RGD RGD:1310746
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