NDUFB11 - NADH:ubiquinone oxidoreductase subunit B11 Gene

Also Known as ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 54539

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	31206022	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFB11 Protein Structure

ESSS

0
100
153 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa

NDUFB11 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	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

Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFB11 抗体

製品番号	製品名	アプリケーション	反応性
HY-P81586	NDUFB11 Antibody (YA1331)	WB, IHC-P	Human, Mouse, Rat
HY-P81586A	NDUFB11 Antibody (YA1331)(PBS only)	WB, IHC-P	Human, Mouse, Rat

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS09146	NDUFB11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22014	Ndufb11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28532	Ndufb11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	NDUFB11	NCBI