2. Gene
  3. NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

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

中文名称：NADH：泛醌氧化还原酶亚基 A13

种属: Homo sapiens

同用名: B16.6; CDA016; CGI-39; GRIM19; GRIM-19; MC1DN28

基因 ID: 51079 | 基因类型: protein coding

关于 NDUFA13

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,516,225-19,528,198 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues.

功能概要

该基因编码线粒体膜呼吸链 NADH 脱氢酶 (复合物 I) 的一个亚基，其功能是将电子从 NADH 转移到呼吸链。该蛋白质是复合物 I 组装和电子转移活动所必需的。该蛋白结合信号转导和转录激活因子 3 (STAT3) 转录因子，并可作为肿瘤抑制因子发挥作用。从线粒体中纯化的人类蛋白质在大约 16 kDa 处迁移。已发现源自上游启动子并能够表达具有较长 N 末端的蛋白质的转录本，但尚未确定其生物学有效性。[RefSeq 提供，2009 年 10 月]

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

NDUFA13 基因产物(1)

mRNA Protein Name
NM_015965.7 NP_057049.5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
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
12867595 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to interferon-beta IDA
IDA: 通过直接分析推断
17297443 GOA
involved in cellular response to retinoic acid IDA
IDA: 通过直接分析推断
17297443 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
25901006 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12867595 GOA
involved in positive regulation of execution phase of apoptosis IGI
IGI: 通过遗传相互作用推断
17297443 GOA
involved in positive regulation of protein catabolic process IGI
IGI: 通过遗传相互作用推断
17297443 GOA
involved in protein insertion into mitochondrial inner membrane IDA
IDA: 通过直接分析推断
23271731 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10924506 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28844695 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
17209039 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
12611891 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
10924506 GOA
part of respiratory chain complex IDA
IDA: 通过直接分析推断
12611891 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 GOA
part of respiratory chain complex I IMP
IMP: 通过突变表型推断
25901006 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

NDUFA13 蛋白结构

GRIM-19

GRIM-19: GRIM-19 protein (3 - 130)

  • 0
  • 100
  • 144 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

CI-B16.6

NDUFA13 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
NDUFA13 Q9P0J0 HTRA2 Homo sapiens O43464
Anti Bait CoIP
17297443
种属间: 跨种属相互作用 种属内: 同种属相互作用

NDUFA13 抗体

目录号 产品名 应用 反应物种
HY-P82207 GRIM19 Antibody (YA1952) WB, IHC-P, ICC/IF Human

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 28

MC1DN28

Mitochondrial Complex 1 Deficiency, Nuclear Type 28

Nuclear Type Mitochondrial Complex I Deficiency 28
Thyroid Carcinoma, Hurthle Cell

Hurthle Cell Carcinoma Of Thyroid

Hurthle Cell Thyroid Neoplasia

Hurthle Cell Thyroid Cancer

Follicular Thyroid Cancer, Hurthle Cell Type

Hurthle Cell Carcinoma Of The Thyroid

Thyroid Cancer, Hurthle Cell

Thyroid Cancer, Follicular, Hurthle Cell Type

Hurthle Cell Thyroid Carcinoma

HCTC

Hurthle Cell Carcinoma

Thyroid Hurthle Cell Carcinoma

Adenocarcinoma, Oxyphilic
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy
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
Differentiated Thyroid Carcinoma

Papillary Or Follicular Thyroid Carcinoma

Well-Differentiated Thyroid Carcinoma

Differentiated Thyroid Gland Carcinoma
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
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Adenomyosis

Endometriosis Of Uterus

Endometriosis Interna

Endometriosis Of Myometrium

Endometriosis, Myometrium

Uterine Adenomyosis

Adenomyosis Uteri

Internal Endometriosis
Thyroid Hurthle Cell Adenoma

Benign Oncocytoma Of The Thyroid

Thyroid Gland Oncocytic Adenoma
Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland
Leukodystrophy

Leukodystrophies
Myopathy

Muscular Diseases

Myopathies
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-RS09126 NDUFA13 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus NDUFA13 VGNC VGNC:80633
Mus musculus NDUFA13 MGD MGI:1914434
Bos taurus NDUFA13 VGNC VGNC:31946
Canis familiaris NDUFA13 VGNC VGNC:43686
Rattus norvegicus NDUFA13 RGD RGD:6492821
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