Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufs1provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase core subunit S1provided by MGI
Primary source: MGI:MGI:2443241
See related: Ensembl:ENSMUSG00000025968 AllianceGenome:MGI:2443241
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: 5830412M15Rik; 9930026A05Rik
Summary: Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in inherited metabolic disorder; mitochondrial complex I deficiency; and nuclear type mitochondrial complex I deficiency 5. Orthologous to human NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart adult (RPKM 78.5), cerebellum adult (RPKM 29.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C2; 1 32.29 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (63182751..63215981, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (63143592..63176822, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Targeted degradation of NDUFS1 by agrimol B promotes mitochondrial ROS accumulation and cytotoxic autophagy arrest in hepatocellular carcinoma.
Title: Targeted degradation of NDUFS1 by agrimol B promotes mitochondrial ROS accumulation and cytotoxic autophagy arrest in hepatocellular carcinoma.
Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis.
Title: Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis.
Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy.
Title: Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy.
The transition of mitochondrial complex I into the D-form in the absence of oxygen may represent a key event in promoting cardiac injury during I/R.
Title: Conformational change of mitochondrial complex I increases ROS sensitivity during ischemia.
lysosomal membrane permeability induced by TNFalpha plus cycloheximide, the release of lysosomal cathepsins and reactive oxygen species formation require the caspase-3-mediated cleavage of the p75 NDUFS1 subunit of respiratory complex I.
Title: TNFα-induced lysosomal membrane permeability is downstream of MOMP and triggered by caspase-mediated NDUFS1 cleavage and ROS formation.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66863 (e-PCR)
- UniSTS:88377

Ndufs1 (e-PCR), detects polymorphism
- UniSTS:527441

G19935 (e-PCR)
- UniSTS:42920

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
contributes_to NADH dehydrogenase (ubiquinone) activity	IBA Inferred from Biological aspect of Ancestor more info
enables NADH dehydrogenase (ubiquinone) activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
enables NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
contributes_to NADH dehydrogenase (ubiquinone) activity	ISS Inferred from Sequence or Structural Similarity more info
enables electron transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	ISO Inferred from Sequence Orthology more info
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in apoptotic mitochondrial changes	ISO Inferred from Sequence Orthology more info
involved_in cellular respiration	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, NADH to ubiquinone	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	ISO Inferred from Sequence Orthology more info
part_of respiratory chain complex I	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial

Names: CI-75kD; NADH dehydrogenase (ubiquinone) Fe-S protein 1; complex I-75kD

NP_001153510.1

EC 7.1.1.2

NP_001153511.1

EC 7.1.1.2

NP_001153512.1

EC 7.1.1.2

NP_663493.2

EC 7.1.1.2

XP_006496015.1

EC 7.1.1.2

XP_030109554.1

EC 7.1.1.2

XP_036020306.1

EC 7.1.1.2

XP_036020310.1

EC 7.1.1.2

XP_036020314.1

EC 7.1.1.2

XP_036020318.1

EC 7.1.1.2

XP_036020320.1

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_001160038.1 → NP_001153510.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

See identical proteins and their annotated locations for NP_001153510.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.

Source sequence(s)

AK036926, AV444601, BU708393, BY709888

Consensus CDS

CCDS14996.1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
NM_001160039.1 → NP_001153511.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

See identical proteins and their annotated locations for NP_001153511.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.

Source sequence(s)

AK036926, AV444601, BY709888, CN715066

Consensus CDS

CCDS14996.1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
NM_001160040.1 → NP_001153512.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

See identical proteins and their annotated locations for NP_001153512.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.

Source sequence(s)

AK036926, AV444601, BG808119, BY709888

Consensus CDS

CCDS14996.1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Related

ENSMUSP00000126621.3, ENSMUST00000168099.9

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
NM_145518.2 → NP_663493.2 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

See identical proteins and their annotated locations for NP_663493.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.

Source sequence(s)

AK036926, AV444601, BY709888

Consensus CDS

CCDS14996.1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Related

ENSMUSP00000027111.9, ENSMUST00000027111.15

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

63182751..63215981 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495952.4 → XP_006496015.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_006496015.1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
XM_036164427.1 → XP_036020320.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

UniProtKB/TrEMBL

Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:1 → 580

PRK09130; NADH dehydrogenase subunit G; Validated
XM_030253694.2 → XP_030109554.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
XM_036164417.1 → XP_036020310.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
XM_036164421.1 → XP_036020314.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated
XM_036164425.1 → XP_036020318.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

UniProtKB/TrEMBL

Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:1 → 580

PRK09130; NADH dehydrogenase subunit G; Validated
XM_036164413.1 → XP_036020306.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q3UQ73, Q8BM16, Q91VD9

UniProtKB/TrEMBL

Q3TIU7, Q3UIQ2

Conserved Domains (1) summary

PRK09130
Location:31 → 723

PRK09130; NADH dehydrogenase subunit G; Validated