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    NDUFA3 NADH:ubiquinone oxidoreductase subunit A3 [ Homo sapiens (human) ]

    Gene ID: 4696, updated on 30-Oct-2024

    Summary

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    Official Symbol
    NDUFA3provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A3provided by HGNC
    Primary source
    HGNC:HGNC:7686
    See related
    Ensembl:ENSG00000170906 MIM:603832; AllianceGenome:HGNC:7686
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B9; CI-B9
    Summary
    Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 30.6), fat (RPKM 26.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54102855..54107568)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57180922..57186265)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54606163..54610875)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene T cell-interacting, activating receptor on myeloid cells 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54605952-54606928 Neighboring gene osteoclast associated Ig-like receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54617323-54618196 Neighboring gene TCF3 fusion partner Neighboring gene PRPF31 antisense RNA 1 Neighboring gene pre-mRNA processing factor 31 Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene uncharacterized LOC102724273

    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 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. Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. Rak M, et al. FEBS Lett, 2014 May 2. PMID 24717771
    2. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Loeffen JL, et al. Biochem Biophys Res Commun, 1998 Dec 18. PMID 9878551
    3. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371
    4. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. Murray J, et al. J Biol Chem, 2003 Apr 18. PMID 12611891
    5. Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes. Signes A, et al. Essays Biochem, 2018 Jul 20. PMID 30030361, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFA3, NDUFA5 and NDUFA12 supernumerary subunits are necessary for complex I activity and biogenesis.
      Title: Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    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

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) 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 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
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    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] 1 alpha subcomplex subunit 3
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa
    NADH-ubiquinone oxidoreductase B9 subunit
    complex I B9 subunit
    complex I-B9

    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)

    1. NM_004542.4 → NP_004533.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3

      See identical proteins and their annotated locations for NP_004533.1

      Status: VALIDATED

      Source sequence(s)
      AC245052, BC061644
      Consensus CDS
      CCDS12877.1
      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4
      Related
      ENSP00000418438.1, ENST00000485876.6
      Conserved Domains (1) summary
      pfam14987
      Location:7 → 84
      NADHdh_A3; NADH dehydrogenase 1 alpha subcomplex subunit 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54102855..54107568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329683.1 → XP_054185658.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      76759..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330178.1 → XP_054186153.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330475.1 → XP_054186450.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      77276..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330958.1 → XP_054186933.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331239.1 → XP_054187214.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331514.1 → XP_054187489.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      76759..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333554.1 → XP_054189529.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      76646..81988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333655.1 → XP_054189630.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57180922..57186265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321069.1 → XP_054177044.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O95167
      UniProtKB/TrEMBL
      Q6FGG4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95167.1 GenPept UniProtKB/Swiss-Prot:O95167

    Gene LinkOut

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