NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 Gene

中文名称：NADH：泛醌氧化还原酶复合物组装因子 1

种属: Homo sapiens

同用名: CGI65; CIA30; CGI-65; MC1DN11

基因 ID: 51103 | 基因类型: protein coding

关于 NDUFAF1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,387,353-41,403,026 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues.

功能概要

该基因编码复合物 I 组装因子蛋白。复合物 I (NADH-泛醌氧化还原酶) 在线粒体呼吸链的第一步中催化电子从 NADH 转移到泛醌 (辅酶 Q) ，导致质子跨线粒体内膜易位。编码的蛋白质是复合物 I 组装所必需的，该基因的突变是线粒体复合物 I 缺陷的原因。已观察到该基因的选择性剪接转录变体，该基因的假基因位于 19 号染色体的长臂上。[RefSeq 提供，2011 年 12 月]

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

NDUFAF1 基因产物(1)

mRNA	Protein	Name
NM_016013.4	NP_057097.2	complex I intermediate-associated protein 30, mitochondrial precursor

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	17344420	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chaperone-mediated protein complex assembly	IDA IDA: 通过直接分析推断	17344420	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: 通过突变表型推断	16218961	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	16218961	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

NDUFAF1 蛋白结构

CIA30

0
100
200
300
327 a.a.

蛋白主名

其他名称

complex I intermediate-associated protein 30, mitochondrial

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

NDUFAF1 抗体

目录号	产品名	应用	反应物种
HY-P82434	NDUFAF1 Antibody (YA2179)	WB, IHC-P, ICC/IF, IP, FC	Human

关联疾病

疾病名称

别名

Mitochondrial Complex I Deficiency, Nuclear Type 11

MC1DN11	Mitochondrial Complex 1 Deficiency, Nuclear Type 11
Nuclear Type Mitochondrial Complex I Deficiency 11

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

Peroxisome Biogenesis Disorder 4a

PBD4A	Peroxisome Biogenesis Disorder Complementation Group 4
PBD-CG4	Cg4
Pbd-Cg6	Pbd-Cgc
Peroxisome Biogenesis Disorder Complementation Group 6	Peroxisome Biogenesis Disorder Complementation Group C
Peroxisome Biogenesis Disorder, Type 4a

Leukodystrophy

Leukodystrophies

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

Hypoinsulinemic Hypoglycemia With Hemihypertrophy

Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy

HIHGHH

Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency	Acad9 Deficiency
MC1DN20	Mitochondrial Complex I Deficiency Due To Acad9 Deficiency
Nuclear Type Mitochondrial Complex I Deficiency 20	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency	Deficiency Of Acyl-Coa Dehydrogenase Family Member 9
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn	Mitochondrial Complex I Deficiency, Nuclear Type
Mitochondrial Complex I Deficiency, Nuclear

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

Myopathy

Muscular Diseases

Myopathies

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09137	NDUFAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	NDUFAF1	VGNC	VGNC:43691
Bos taurus	NDUFAF1	VGNC	VGNC:31953
Felis catus	NDUFAF1	VGNC	VGNC:80897
Mus musculus	NDUFAF1	MGD	MGI:1916952
Rattus norvegicus	NDUFAF1	RGD	RGD:1306202
Macaca mulatta	NDUFAF1	VGNC	VGNC:84406

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 Gene

关于 NDUFAF1

功能概要

NDUFAF1 基因产物(1)

NDUFAF1 蛋白结构

NDUFAF1 抗体

关联疾病

直系同源

热门区域

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NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 Gene

关于 NDUFAF1

功能概要

NDUFAF1 基因产物(1)

NDUFAF1 蛋白结构

NDUFAF1 抗体

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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