NDUFB11 - NADH:ubiquinone oxidoreductase subunit B11 Gene

中文名称：NADH：泛醌氧化还原酶亚基 B11

种属: Homo sapiens

同用名: ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30

基因 ID: 54539 | 基因类型: protein coding

关于 NDUFB11

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:47,142,216-47,145,491 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues and is associated with 6 phenotypes. Ubiquitous expression in adrenal (RPKM 29.1), heart (RPKM 25.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是多亚基 NADH 的一个亚基：泛醌氧化还原酶 (复合物 I) 。哺乳动物复合体 I 位于线粒体内膜。该蛋白具有 NADH 脱氢酶活性和氧化还原酶活性。它将电子从 NADH 转移到泛醌。人类基因的突变与具有多种先天性异常 3 和线粒体复合物 I 缺陷的线性皮肤缺陷有关。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

NDUFB11 基因产物(2)

mRNA	Protein	Name
NM_001135998.3	NP_001129470.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 2
NM_019056.7	NP_061929.2	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 1

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	25416956	GOA

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
located in mitochondrion	IDA IDA: 通过直接分析推断	31206022	GOA
part of respiratory chain complex I	IDA IDA: 通过直接分析推断	12611891	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

NDUFB11 蛋白结构

ESSS

0
100
153 a.a.

蛋白主名

其他名称

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa

NDUFB11 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	NDUFB11	Q9NX14	HIBADH	Homo sapiens	P31937	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	HIBADH	Homo sapiens	P31937	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	GJB1	Homo sapiens	P08034	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	GJB1	Homo sapiens	P08034	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	GPR101	Homo sapiens	Q96P66	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	GPR101	Homo sapiens	Q96P66	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	GPR42	Homo sapiens	O15529	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	GPR42	Homo sapiens	O15529	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	CLDN7	Homo sapiens	O95471	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	CLDN7	Homo sapiens	O95471	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	32296183
Intra	NDUFB11	Q9NX14	FATE1	Homo sapiens	Q969F0	Y2H Array	25416956
Intra	NDUFB11	Q9NX14	FATE1	Homo sapiens	Q969F0	Y2H Array	32296183
Intra	NDUFB11	Q9NX14	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956

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 30

MC1DN30	Mitochondrial Complex 1 Deficiency, Nuclear Type 30
Nuclear Type Mitochondrial Complex I Deficiency 30

Linear Skin Defects With Multiple Congenital Anomalies 3

LSDMCA3	Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies
Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

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

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Optic Atrophy 2

OPA2	Optic Atrophy, X-Linked
Optic Atrophy, Non-Leber Type, With Early Onset	Optic Atrophy 2, X-Linked
X-Linked Optic Atrophy 2	Early-Onset X-Linked Optic Atrophy
Non-Leber Type Optic Atrophy With Early-Onset	Optic Atrophy Type 2
Atrophy, Optic, Type 2

Orbital Cyst

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

Sclerocornea

Isolated Congenital Sclerocornea

Leukodystrophy

Leukodystrophies

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

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-RS09146	NDUFB11 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NDUFB11	RGD	RGD:1563698
Mus musculus	NDUFB11	MGD	MGI:1349919
Bos taurus	NDUFB11	VGNC	VGNC:31961
Felis catus	NDUFB11	VGNC	VGNC:63761
Canis familiaris	NDUFB11	VGNC	VGNC:43700

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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）

NDUFB11 - NADH:ubiquinone oxidoreductase subunit B11 Gene

关于 NDUFB11

功能概要

NDUFB11 基因产物(2)

NDUFB11 蛋白结构

NDUFB11 蛋白互作信息

关联疾病

直系同源

热门区域

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NDUFB11 - NADH:ubiquinone oxidoreductase subunit B11 Gene

关于 NDUFB11

功能概要

NDUFB11 基因产物(2)

NDUFB11 蛋白结构

NDUFB11 蛋白互作信息

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

Y

Z