1. Gene
  2. TIMMDC1 - translocase of inner mitochondrial membrane domain containing 1 Gene

TIMMDC1 - translocase of inner mitochondrial membrane domain containing 1 Gene

中文名称:含线粒体内膜结构域转位酶 1

种属: Homo sapiens

同用名: C3orf1; MC1DN31

基因 ID: 51300 | 基因类型: protein coding

关于 TIMMDC1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,498,547-119,525,090 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues.

功能概要

位于线粒体和核质中。涉及核型线粒体复合物 I 缺陷 31。[由基因组资源联盟提供,2022 年 4 月]

Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Apr 2022]

TIMMDC1 基因产物(1)

mRNA Protein Name
NM_016589.4 NP_057673.2 complex I assembly factor TIMMDC1, mitochondrial precursor
基因本体论
  • 分子功能
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
25416956 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

TIMMDC1 蛋白结构

Tim17

Tim17: Tim17/Tim22/Tim23/Pmp24 family (75 - 205)

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

complex I assembly factor TIMMDC1, mitochondrial

M5-14 protein

TIMMDC1 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
Intra TIMMDC1 Q9NPL8 PTPRN Homo sapiens Q16849-3
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 KIR2DL4 Homo sapiens Q99706
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 KIR2DL4 Homo sapiens Q99706
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 TVP23B Homo sapiens Q9NYZ1
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 GPX8 Homo sapiens Q8TED1
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 GPX8 Homo sapiens Q8TED1
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 PEX5 Homo sapiens P50542-3
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 PEX5 Homo sapiens P50542-3
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 NDUFB11 Homo sapiens Q9NX14
Anti Tag CoIP
33961781
Intra TIMMDC1 Q9NPL8 NDUFB11 Homo sapiens Q9NX14
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 RNF24 Homo sapiens Q9Y225-2
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 EPGN Homo sapiens Q6UW88-2
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 EPGN Homo sapiens Q6UW88-2
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 HSD17B13 Homo sapiens Q7Z5P4
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 HSD17B13 Homo sapiens Q7Z5P4
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 APOC4 Homo sapiens P55056
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 APOC4 Homo sapiens P55056
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 FAM210B Homo sapiens Q96KR6
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 FAM210B Homo sapiens Q96KR6
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 MARCHF5 Homo sapiens Q9NX47
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 ARL6IP6 Homo sapiens Q8N6S5
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 MFSD14B Homo sapiens Q5SR56
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 MFSD14B Homo sapiens Q5SR56
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 DIABLO Homo sapiens Q9NR28
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
Intra TIMMDC1 Q9NPL8 FATE1 Homo sapiens Q969F0
Y2H Array
25416956
Intra TIMMDC1 Q9NPL8 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
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
Mitochondrial Complex I Deficiency, Nuclear Type 31

MC1DN31

Mitochondrial Complex 1 Deficiency, Nuclear Type 31

Nuclear Type Mitochondrial Complex I Deficiency 31

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

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn

Mitochondrial Complex I Deficiency, Nuclear Type

Mitochondrial Complex I Deficiency, Nuclear

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Cardiomyopathy, Dilated, 1hh

Dilated Cardiomyopathy 1hh

CMD1HH

Cardiomyopathy, Dilated 1hh

Cardiomyopathy, Dilated, Type 1hh

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

Leukodystrophy

Leukodystrophies

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

Myopathy

Muscular Diseases

Myopathies

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus TIMMDC1 VGNC VGNC:49579
Canis familiaris TIMMDC1 VGNC VGNC:49626
Mus musculus TIMMDC1 MGD MGI:1922139
Macaca mulatta TIMMDC1 VGNC VGNC:78377
Felis catus TIMMDC1 VGNC VGNC:66192
Rattus norvegicus TIMMDC1 RGD RGD:1359380