1. Gene
  2. NDUFC1 - NADH:ubiquinone oxidoreductase subunit C1 Gene

NDUFC1 - NADH:ubiquinone oxidoreductase subunit C1 Gene

中文名称:NADH:泛醌氧化还原酶亚基 C1

种属: Homo sapiens

同用名: KFYI

基因 ID: 4717 | 基因类型: protein coding

关于 NDUFC1

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,289,917-139,302,551 (from NCBI)

This gene has 12 transcripts (splice variants) and 120 orthologues. Ubiquitous expression in kidney (RPKM 30.2), heart (RPKM 27.3) and 25 other tissues.

功能概要

编码的蛋白质是 NADH 的一个亚基:泛醌氧化还原酶 (复合物 I) ,位于线粒体内膜的电子传递链中的第一个酶复合物。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 5 月]

The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NDUFC1 基因产物(7)

mRNA Protein Name
NM_001184986.1 NP_001171915.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184987.1 NP_001171916.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184988.1 NP_001171917.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184989.2 NP_001171918.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184990.1 NP_001171919.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184991.1 NP_001171920.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_002494.3 NP_002485.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
27626371 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
28844695 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
27626371 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

NDUFC1 蛋白结构

NADH_dh_m_C1

NADH_dh_m_C1: NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (28 - 76)

  • 0
  • 76 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

CI-KFYI

关联疾病

疾病名称 别名
Bacterial Gastritis
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

Plethora Of Newborn

Neonatal Polycythemia

Leber Optic Atrophy And Dystonia

LDYT

Marsden Syndrome

Leber Hereditary Optic Neuropathy With Dystonia

Leber Hereditary Optic Neuropathy And Dystonia

Familial Dystonia With Visual Failure And Striatal Lucencies

Dystonia, Familial, With Visual Failure And Striatal Lucencies

Leber Optic Atrophy With Dystonia

Dystonia Familial, With Visual Failure And Striatal Lucencies

Lhon And Dystonia

Leber'S Hereditary Optic Neuropathy With Dystonia

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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus NDUFC1 MGD MGI:1913627
Rattus norvegicus NDUFC1 RGD RGD:1586362
Bos taurus NDUFC1 VGNC VGNC:31968