Ndufs6 NADH:ubiquinone oxidoreductase core subunit S6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufs6provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase core subunit S6provided by MGI
Primary source: MGI:MGI:107932
See related: Ensembl:ENSMUSG00000021606 AllianceGenome:MGI:107932
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: IP13
Summary: Acts upstream of or within several processes, including mitochondrion organization; multicellular organism aging; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Is expressed in limb; respiratory system; and skeleton. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in cervical cancer and nuclear type mitochondrial complex I deficiency 9. Orthologous to human NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 124.2), placenta adult (RPKM 69.8) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13; 13 C1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (73467995..73476601, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (73319876..73328482, complement)

Chromosome 13 - NC_000079.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
Title: Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
The studies identify for the first time that complex I deficiency as the result of interruption of Ndufs6 is an independent cause of renal impairment.
Title: Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease.
Data show that Ndufs6(gt/gt) mice are born healthy, attain normal weight and maturity, and are fertile, however, after 4 mo in males and 8 mo in females, Ndufs6(gt/gt) mice are at increased risk of cardiac failure and death.
Title: Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Ndufs6 gene: The Ndufs6 gene is conserved in human, chimpanzee, Rhesus monkey, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 494 organisms have orthologs with human gene Ndufs6
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within circulatory system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within reproductive system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in respirasome	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: CI-13kD-A; NADH dehydrogenase (ubiquinone) Fe-S protein 6; NADH dehydrogenase Fe-S protein 6; NADH-ubiquinone oxidoreductase 13 kDa-A subunit; complex I-13kD-A

NP_035018.1

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.

mRNA and Protein(s)

NM_010888.2 → NP_035018.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

See identical proteins and their annotated locations for NP_035018.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the full-length protein.

Source sequence(s)

AC154266, BC076501, BG081040

Consensus CDS

CCDS26630.1

UniProtKB/Swiss-Prot

P52503, Q5M9J7

UniProtKB/TrEMBL

A0A8C6MXR5

Related

ENSMUSP00000022097.6, ENSMUST00000022097.6

Conserved Domains (1) summary

pfam10276
Location:75 → 111

zf-CHCC; Zinc-finger domain

RNA

NR_033306.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC154266, BC076501

Related

ENSMUST00000147407.2