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

    Gene ID: 4722, updated on 8-Jul-2021

    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
    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
    NEW
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    Genomic context

    See NDUFS3 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47579074..47584562)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47600626..47606114)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene family with sequence similarity 180 member B Neighboring gene C1q and TNF related 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Mitochondrial complex 1 deficiency, nuclear type 8
    MedGen: C4748766 OMIM: 618230 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    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
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    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

    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)

    NEW Try the new Transcript table

    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_004551.3NP_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
      O75489
      Related
      ENSP00000263774.4, ENST00000263774.9
      Conserved Domains (1) summary
      PRK06074
      Location:58240
      PRK06074; NADH dehydrogenase subunit C; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p13 PATCHES

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