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

Gene ID: 4696, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 30.6), fat (RPKM 26.2) and 25 other tissues See more
Orthologs
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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
NP_004533.1
XP_054177044.1
XP_054185658.1
XP_054186153.1
XP_054186450.1
XP_054186933.1
XP_054187214.1
XP_054187489.1
XP_054189529.1
XP_054189630.1

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.

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

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