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    NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 [ Homo sapiens (human) ]

    Gene ID: 4731, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NDUFV3provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit V3provided by HGNC
    Primary source
    HGNC:HGNC:7719
    See related
    Ensembl:ENSG00000160194 MIM:602184; AllianceGenome:HGNC:7719
    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-10k; CI-9KD
    Summary
    The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 8.3), heart (RPKM 7.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NDUFV3 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42893309..42913299)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41281682..41301785)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44313419..44333409)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44197711-44198660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44199612-44200561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44201049-44201772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44202497-44203220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44203221-44203942 Neighboring gene long intergenic non-protein coding RNA 1668 Neighboring gene NANOG hESC enhancer GRCh37_chr21:44220991-44221572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44254625-44255576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44268253-44268818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44268819-44269384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44280271-44280829 Neighboring gene WD repeat domain 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44285917-44286612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44297711-44298674 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44298675-44299639 Neighboring gene uncharacterized LOC105372817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44334874-44335381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44335382-44335888 Neighboring gene endogenous retrovirus group 48 member 1, envelope Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44345875-44346396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44346397-44346918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44348205-44348758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44348759-44349310 Neighboring gene uncharacterized LOC124905022 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44356879-44357537

    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. Kinetics of the mitochondrial NADH-ubiquinone oxidoreductase interaction with hexammineruthenium(III). Sled VD, et al. Biochim Biophys Acta, 1993 Mar 1. PMID 8443212
    2. Kinetic mechanism of mitochondrial NADH:ubiquinone oxidoreductase interaction with nucleotide substrates of the transhydrogenase reaction. Zakharova NV, et al. Biochemistry (Mosc), 2002 Dec. PMID 12600270
    3. A novel isoform of the human mitochondrial complex I subunit NDUFV3. Dibley MG, et al. FEBS Lett, 2017 Jan. PMID 27987311
    4. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3). de Coo RF, et al. Genomics, 1997 Oct 15. PMID 9344673
    5. The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. Kervinen M, et al. Hum Mol Genet, 2006 Sep 1. PMID 16849371

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFV3 represents the first known complex I subunit present in two functional isoforms.
      Title: A novel isoform of the human mitochondrial complex I subunit NDUFV3.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. The results provide new information on the function of the region affected by the MELAS mutations 3946 and 3949 that is not obtainable from patient samples or current eukaryote models.
      Title: The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates NDUFV3 in HeLa cells within 12 hours of exposure 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA binding HDA 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 ATP synthesis coupled electron transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial ATP synthesis coupled electron transport 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 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 
    located_in mitochondrion 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 IMP
    Inferred from Mutant Phenotype
    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] flavoprotein 3, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa
    NADH-ubiquinone oxidoreductase 9 kD subunit
    NADH-ubiquinone oxidoreductase 9 kDa subunit
    NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD
    complex I 10kDa subunit
    complex I, mitochondrial respiratory chain, 10-kD subunit
    complex I-9kD
    mitochondrial NADH oxidoreductase-like protein
    renal carcinoma antigen NY-REN-4
    NP_001001503.1
    NP_066553.3
    XP_011527888.1
    XP_016883848.1
    XP_054180499.1
    XP_054180500.1

    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_042281.2 RefSeqGene

      Range
      5002..24992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001503.2 → NP_001001503.1  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001001503.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AP001629, BC033766, BI829092, CF123536
      Consensus CDS
      CCDS33573.1
      UniProtKB/Swiss-Prot
      A8K0M1, J3KNX7, P56181, Q6FGD3, Q8WU60, Q9HCR5
      Related
      ENSP00000342895.3, ENST00000340344.4
      Conserved Domains (1) summary
      pfam15880
      Location:67 → 100
      NDUFV3; NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

    2. NM_021075.4 → NP_066553.3  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_066553.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AP001629, BC021217, BC033766, BF311986, BI829092, BU629860, CF123536
      Consensus CDS
      CCDS33572.1
      UniProtKB/TrEMBL
      Q96DP0
      Related
      ENSP00000346196.2, ENST00000354250.7
      Conserved Domains (1) summary
      pfam15880
      Location:432 → 465
      NDUFV3; NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      42893309..42913299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529586.3 → XP_011527888.1  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q96DP0
      Conserved Domains (1) summary
      pfam15880
      Location:453 → 486
      NDUFV3; NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

    2. XM_017028359.2 → XP_016883848.1  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q2VYF0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      41281682..41301785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324524.1 → XP_054180499.1  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform X1

    2. XM_054324525.1 → XP_054180500.1  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56181.2 GenPept UniProtKB/Swiss-Prot:P56181

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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