NDUFB6 - NADH:ubiquinone oxidoreductase subunit B6 Gene

Homo sapiens

Also known as CI; B17

Gene ID: 4712 | Gene type: protein coding

About NDUFB6

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,553,001-32,573,159 (from NCBI)

This gene has 3 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in heart (RPKM 40.7), kidney (RPKM 36.7) 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 locates 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. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

NDUFB6 Products(3)

mRNA	Protein	Name
NM_001199987.2	NP_001186916.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 3
NM_002493.5	NP_002484.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1
NM_182739.3	NP_877416.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial ATP synthesis coupled electron transport	IMP IMP: Inferred from mutant phenotype	24746669	GOA
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 membrane	IDA IDA: Inferred from direct assay	17209039	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA
part of respiratory chain complex I	IMP IMP: Inferred from mutant phenotype	24746669	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

NDUFB6 Protein Structure

NDUF_B6

0
100
128 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6

CI-B17

NDUFB6 Protein-protein interaction Information

Type Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NDUFB6	O95139	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	NDUFB6	O95139	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	NDUFB6	O95139	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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 (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS09151	NDUFB6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NDUFB6	RGD	RGD:1311354
Felis catus	NDUFB6	VGNC	VGNC:68442
Mus musculus	NDUFB6	MGD	MGI:2684983
Macaca mulatta	NDUFB6	VGNC	VGNC:75159
Canis familiaris	NDUFB6	VGNC	VGNC:43704
Bos taurus	NDUFB6	VGNC	VGNC:31965

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