NDUFB7 - NADH:ubiquinone oxidoreductase subunit B7 Gene

Homo sapiens

Also known as B18; CI-B18; MC1DN39

Gene ID: 4713 | Gene type: protein coding

About NDUFB7

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:14,566,078-14,572,066 (from NCBI)

This gene has 2 transcripts (splice variants), 184 orthologues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 29.3), heart (RPKM 25.7) 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 composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the Enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

NDUFB7 Products(1)

mRNA	Protein	Name
NM_004146.6	NP_004137.2	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables NADH dehydrogenase (ubiquinone) activity	IMP IMP: Inferred from mutant phenotype	33502047	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	21310150	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

NDUFB7 Protein Structure

NDUF_B7

0
100
137 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa

Related Diseases

Diseases

Alias

Mitochondrial Disorder Due To A Defect In Assembly Or Maturation Of The Respiratory Chain Complexes

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency
Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5	MC5DN3
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency Nuclear Type 3
MC3DN5	Mitochondrial Complex V Deficiency, Atp5e Type
Mitochondrial Complex Iii Deficiency, Nuclear 5	Mitochondrial Complex V Deficiency, Nuclear Type 3
Mitochondrial Complex V Deficiency Atp5e Type	Mitochondrial Complex V Deficiency Type 3
Mitochondrial Complex V Deficiency, Nuclear, Type 3

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-169281	Antiviral agent 61		/	Unkown
HY-RS09152	NDUFB7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NDUFB7	VGNC	VGNC:68443
Canis familiaris	NDUFB7	VGNC	VGNC:43705
Bos taurus	NDUFB7	VGNC	VGNC:31966
Mus musculus	NDUFB7	MGD	MGI:1914166
Rattus norvegicus	NDUFB7	RGD	RGD:1308550

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