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

Summary

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: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47579074..47584562)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47739496..47744966)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47600626..47606114)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
Title: NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
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.
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.
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.
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.
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.
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.
High NDUFS3 expression is associated with IgA nephropathy.
Title: Altered monocyte expression and expansion of non-classical monocyte subset in IgA nephropathy patients.
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.
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	not available

EBI GWAS Catalog

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

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 3 (NADH-coenzyme Q reductase, 30kDa; NDUFS3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

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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

D11S2921 (e-PCR)
- UniSTS:152074

L18426 (e-PCR)
- UniSTS:34648

MARC_23769-23770:1027452433:1 (e-PCR)
- UniSTS:268770

D5S1597E (e-PCR)
- UniSTS:151019

SHGC-153212 (e-PCR)
- UniSTS:177644

D11S4109 (e-PCR), detects polymorphism
- UniSTS:38904

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 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

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
located_in mitochondrion	HTP 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
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of 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 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

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_011946.2 RefSeqGene

Range

5065..10553

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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