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NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 [ Homo sapiens (human) ]

Gene ID: 4722, updated on 11-Apr-2024

Summary

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Official Symbol
NDUFS3provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S3provided by HGNC
Primary source
HGNC:HGNC:7710
See related
Ensembl:ENSG00000213619 MIM:603846; AllianceGenome:HGNC:7710
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-30; MC1DN8
Summary
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
Expression
Ubiquitous expression in heart (RPKM 45.6), duodenum (RPKM 44.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFS3 in Genome Data Viewer
Location:
11p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47579074..47584562)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47739496..47744966)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47600626..47606114)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:47586662-47587162 and GRCh37_chr11:47587163-47587663 Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47597510-47597690 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene MPRA-validated peak1274 silencer Neighboring gene family with sequence similarity 180 member B Neighboring gene MPRA-validated peak1275 silencer Neighboring gene C1q and TNF related 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. Lou X, et al. J Hum Genet, 2018 Dec. PMID 30140060
  2. Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type. Jaokar TM, et al. Biochimie, 2013 Dec. PMID 24028823
  3. Reduced expression of NDUFS3 and its clinical significance in serous ovarian cancer. Wang P, et al. Int J Gynecol Cancer, 2013 May. PMID 23446378
  4. Biomarker signatures of mitochondrial NDUFS3 in invasive breast carcinoma. Suhane S, et al. Biochem Biophys Res Commun, 2011 Sep 9. PMID 21867691, Free PMC Article
  5. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. Bénit P, et al. J Med Genet, 2004 Jan. PMID 14729820, Free PMC Article

See all (152) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
    Title: NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
  2. NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
    Title: NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
  3. 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.
  4. We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody.
    Title: Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
  5. identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study.
    Title: A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
  6. The results suggest that the impaired mitochondrial activity could be due to the broken interaction between DJ-1 and NDUFS3 and that downregulation of DJ-1 in sperm and testes contributes to AS pathogenesis.
    Title: Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia.
  7. The NDUFS3 expressed in the temporal cortex in patient with late-onset Alzheimer's disease.
    Title: Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.
  8. High NDUFS3 expression is associated with IgA nephropathy.
    Title: Altered monocyte expression and expansion of non-classical monocyte subset in IgA nephropathy patients.
  9. pH stability of w-t and Leigh syndrome mutant varied at extreme acidic pH. the molten globule like structure of w-t at pH1 was absent in case of the mutant protein. Both the w-t and mutant proteins showed multi-step thermal and Gdn-HCl induced unfolding
    Title: Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.
  10. NDUFS3 is down-regulated in serous ovarian adenocarcinoma
    Title: Reduced expression of NDUFS3 and its clinical significance in serous ovarian cancer.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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 8
MedGen: C4748766 OMIM: 618230 GeneReviews: Not available
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EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 3 (NADH-coenzyme Q reductase, 30kDa; NDUFS3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: PTPMT1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables electron transfer activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway 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 
involved_in reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in substantia nigra development HEP PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
Names
CI-30kD
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase-ubiquinone 30 kDa subunit
NADH-ubiquinone oxidoreductase 30 kDa subunit
complex I 30kDa subunit
complex I-30kD
NP_004542.1

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

  1. NG_011946.2 RefSeqGene

    Range
    5065..10553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004551.3 → NP_004542.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004542.1

    Status: REVIEWED

    Source sequence(s)
    BC000617
    Consensus CDS
    CCDS7941.1
    UniProtKB/Swiss-Prot
    B2R9J1, B4DFM8, O75489, Q9UNQ8
    UniProtKB/TrEMBL
    Q53FM7
    Related
    ENSP00000263774.4, ENST00000263774.9
    Conserved Domains (1) summary
    PRK06074
    Location:58 → 240
    PRK06074; NADH dehydrogenase subunit C; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47579074..47584562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p14 PATCHES

    Range
    6900..12388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47739496..47744966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75489.1 GenPept UniProtKB/Swiss-Prot:O75489

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