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

Gene ID: 4731, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42893309..42913299)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41281682..41301785)
105.20220307 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
  • 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. A novel isoform of the human mitochondrial complex I subunit NDUFV3. Dibley MG, et al. FEBS Lett, 2017 Jan. PMID 27987311
  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. Kinetics of the mitochondrial NADH-ubiquinone oxidoreductase interaction with hexammineruthenium(III). Sled VD, et al. Biochim Biophys Acta, 1993 Mar 1. PMID 8443212
  4. 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
  5. 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

See all (56) 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 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
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

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_2023_10

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

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