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NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 [ Homo sapiens (human) ]

Gene ID: 4723, updated on 11-Apr-2024

Summary

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Official Symbol
NDUFV1provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit V1provided by HGNC
Primary source
HGNC:HGNC:7716
See related
Ensembl:ENSG00000167792 MIM:161015; AllianceGenome:HGNC:7716
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
UQOR1; CI-51K; CI51KD; MC1DN4
Summary
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in heart (RPKM 100.7), kidney (RPKM 86.9) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFV1 in Genome Data Viewer
Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67606936..67612554)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67601624..67607243)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67374407..67380025)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67351053-67351195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5110 Neighboring gene glutathione S-transferase pi 1 Neighboring gene MPRA-validated peak1312 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5112 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67370959-67371644 Neighboring gene NDUFV1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67372331-67373016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5114 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67380373-67380888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67381921-67382434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67382435-67382950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67382951-67383466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67383983-67384496 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:67384509-67385123 Neighboring gene double C2 domain gamma, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67386492-67387365 Neighboring gene uncharacterized LOC124902696 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67388663-67389245 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67389246-67389827 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67393084-67393613

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. Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency. Tang X, et al. Genes Genomics, 2022 Jun. PMID 35482246
  2. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. Srivastava A, et al. Eur J Hum Genet, 2018 Nov. PMID 29976978, Free PMC Article
  3. Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. Varghese F, et al. Hum Mol Genet, 2015 Nov 15. PMID 26345448, Free PMC Article
  4. A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Ortega-Recalde O, et al. Mitochondrion, 2013 Nov. PMID 23562761
  5. A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. Vilain C, et al. Clin Genet, 2012 Sep. PMID 21696386

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
    Title: Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
  2. Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.
    Title: Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.
  3. Biallelic missense variants in NDUFV1 were identified in two cases of mitochondrial complex I deficiency.
    Title: Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
  4. Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency.
    Title: Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
  5. we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I
    Title: Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
  6. The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum.
    Title: Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
  7. small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1.
    Title: Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
  8. The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy.
    Title: A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
  9. observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue
    Title: A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
  10. study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1
    Title: Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 4
MedGen: C4748753 OMIM: 618225 GeneReviews: Not available
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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

Clone Names

  • FLJ59059

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables FMN binding IEA
Inferred from Electronic Annotation
more info
  
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables NADH dehydrogenase (ubiquinone) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial electron transport, NADH to ubiquinone IC
Inferred by Curator
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone IDA
Inferred from Direct Assay
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 cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
Names
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH-ubiquinone oxidoreductase 51 kDa subunit
complex I 51 kda subunit
complex I 51kDa subunit
complex I, mitochondrial respiratory chain
mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1
mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit
NP_001159574.1
NP_009034.2

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_013353.1 RefSeqGene

    Range
    5085..10703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166102.2 → NP_001159574.1  NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001159574.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AP003385, BC008146, BP254989, DB532599
    Consensus CDS
    CCDS53669.1
    UniProtKB/TrEMBL
    G3V0I5
    Related
    ENSP00000436766.1, ENST00000529927.5
    Conserved Domains (4) summary
    PRK13596
    Location:26 → 444
    PRK13596; NADH dehydrogenase I subunit F; Provisional
    pfam01512
    Location:71 → 240
    Complex1_51K; Respiratory-chain NADH dehydrogenase 51 Kd subunit
    pfam10531
    Location:266 → 318
    SLBB; SLBB domain
    pfam10589
    Location:357 → 438
    NADH_4Fe-4S; NADH-ubiquinone oxidoreductase-F iron-sulfur binding region

  2. NM_007103.4 → NP_009034.2  NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_009034.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AF053070, AP003385, DB532599
    Consensus CDS
    CCDS8173.1
    UniProtKB/Swiss-Prot
    O60924, O60940, P49821, Q16104, Q6IBR3, Q96BF8, Q96HS7
    UniProtKB/TrEMBL
    E5KNH5, Q53G70
    Related
    ENSP00000322450.6, ENST00000322776.11
    Conserved Domains (1) summary
    PRK13596
    Location:35 → 453
    PRK13596; NADH dehydrogenase I subunit F; Provisional

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    67606936..67612554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    67601624..67607243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49821.4 GenPept UniProtKB/Swiss-Prot:P49821

Gene LinkOut

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