NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFS6provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase subunit S6provided by HGNC
Primary source: HGNC:HGNC:7713
See related: Ensembl:ENSG00000145494 MIM:603848; AllianceGenome:HGNC:7713
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: MC1DN9; 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]
Expression: Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1801407..1816048)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (1716295..1731268)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1801521..1816162)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Title: Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
Title: Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
CD147 appears to regulate complex I activity and apoptosis in malignant melanoma cells by interacting with mitochondrial NDUFS6.
Title: CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells.
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.

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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

Associated conditions

Description	Tests
Mitochondrial complex 1 deficiency, nuclear type 9 MedGen: C4748767 OMIM: 618232 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 6 (NADH-coenzyme Q reductase; NDUFS6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2243E (e-PCR)
- UniSTS:154449

RH41903 (e-PCR)
- UniSTS:27234

Homology

Homologs of the NDUFS6 gene: The NDUFS6 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 449 organisms have orthologs with human gene NDUFS6
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in aerobic respiration	IC Inferred by Curator more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	IPI Inferred from Physical Interaction more info	PubMed
part_of 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) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase); NADH-ubiquinone oxidoreductase 13 kDa-A subunit; NADH:ubiquinone oxidoreductase NDUFS6 subunit; complex I 13kDa subunit A; complex I, mitochondrial respiratory chain, 13-kD subunit

NP_004544.1

EC 1.6.99.3

EC 7.1.1.2

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

5026..19667

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_004544.1

Status: REVIEWED

Source sequence(s)

BC038664

Consensus CDS

CCDS3866.1

UniProtKB/Swiss-Prot

O75380

UniProtKB/TrEMBL

Q6IBC4

Related

ENSP00000274137.6, ENST00000274137.10

Conserved Domains (1) summary

pfam10276
Location:82 → 119

zf-CHCC; Zinc-finger domain