NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: NDUFS6provided by HGNC
Official Full Name: NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)provided by HGNC
Primary source: HGNC:7713
See related: HPRD:10356; MIM:603848
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CI-13kA; CI13KDA; CI-13kD-A
Summary: This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

Genomic context

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Location :: 5p15.33

Sequence :: Chromosome: 5; NC_000005.9 (1801496..1816165)

See NDUFS6 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
NDUFS6 is required for the assembly and stabilization of a portion of complex I that contains a number of subunits.
Title: Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.
NDUFS6, a complex I subunit gene not previously associated with complex I deficiency, was grossly underexpressed in t patient cell lines.
Title: NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Mitochondrial complex I deficiency

MIM: 252010

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
O75380	P22607	FGFR3	HPRD	PubMed
O75380	Q12809	KCNH2	HPRD	PubMed
BioGRID:110805	BioGRID:107747	COX15	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:108552	FGFR3	BioGRID	PubMed	Two-hybrid
BioGRID:110805	BioGRID:115506	FLOT1	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:109822	ILF3	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:109959	KCNH2	BioGRID	PubMed	Two-hybrid
BioGRID:110805	BioGRID:112748	MAP3K7	BioGRID	PubMed	Two-hybrid
BioGRID:110805	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:110805	BioGRID:117086	MAPK8IP2	BioGRID	PubMed	Two-hybrid
BioGRID:110805	BioGRID:110498	MPV17	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110775	NDUFA2	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110790	NDUFB4	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110800	NDUFS2	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110803	NDUFS4	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:131889	NDUFS7	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110806	NDUFS8	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:110815	NEDD8	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:117076	NNT	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:128532	OR4S2	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:111834	RALA	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:112120	RPS12	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:112290	SDHA	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:120870	SEPT11	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:112937	TJP1	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:127596	TMEM65	BioGRID	PubMed	Co-fractionation
BioGRID:110805	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Alzheimer's disease, organism-specific biosystem (from KEGG)
Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimer's disease, conserved biosystem (from KEGG)
Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Electron Transport Chain, organism-specific biosystem (from WikiPathways)
Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
Huntington's disease, organism-specific biosystem (from KEGG)
Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Huntington's disease, conserved biosystem (from KEGG)
Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria, organism-specific biosystem (from KEGG)
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, organism-specific biosystem (from KEGG)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, conserved biosystem (from KEGG)
Oxidative phosphorylation, conserved biosystem
Oxidative phosphorylation
Parkinson's disease, organism-specific biosystem (from KEGG)
Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
Respiratory electron transport, organism-specific biosystem (from REACTOME)
Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

General gene information

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Markers

D5S2243E (e-PCR)
- UniSTS:154449

RH41903 (e-PCR)
- UniSTS:27234

Genotypes

See NDUFS6 SNP Geneview Report
See NDUFS6 SNP Genotype Report
See NDUFS6 SNP Variation Viewer Report

Homology

Homologs of the NDUFS6 gene: The NDUFS6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed
electron carrier activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

Names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; complex I 13kDa subunit A; NADH:ubiquinone oxidoreductase NDUFS6 subunit; NADH-ubiquinone oxidoreductase 13 kDa-A subunit; complex I, mitochondrial respiratory chain, 13-kD subunit

NP_004544.1

EC 1.6.5.3

EC 1.6.99.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013354.1 RefSeqGene

Range

5001..19670

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004553.4 → NP_004544.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

BC038664, BE900424, CN285188

Consensus CDS

CCDS3866.1

UniProtKB/Swiss-Prot

O75380

UniProtKB/TrEMBL

Q6IBC4

Conserved Domains (1) summary

pfam10276
Location:81 – 120
Blast Score: 162

zf-CHCC; Zinc-finger domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p10 Primary Assembly

Range

1801496..1816165

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

1783132..1798367

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018916.1 Alternate CHM1_1.0

Range

1764965..1779632

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01034195.1 (41210..44488)	None
genomic	ABBA01034196.1	None
genomic	AC026443.4 (70243..84912)	None
genomic	AMYH01014864.1 (133340..148007)	None
genomic	CH471102.2	EAX08142.1
		EAX08143.1
mRNA	AF044959.1	AAC27799.1
mRNA	AK022503.1	BAG51079.1
mRNA	BC038664.1	AAH38664.1
mRNA	BC046155.2	AAH46155.1
mRNA	BE900424.1	None
mRNA	BG706812.1	None
mRNA	BM172493.1	None
mRNA	BM759028.1	None
mRNA	BM764340.1	None
mRNA	CN285188.1	None
mRNA	CR456880.1	CAG33161.1
other-genetic	HQ257915.1	ADR82670.1