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

    Gene ID: 4723, updated on 11-Jun-2021

    Summary

    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
    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

    See NDUFV1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67606936..67612554)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67374407..67380025)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase pi 1 Neighboring gene NDUFV1 divergent transcript Neighboring gene double C2 domain gamma, pseudogene Neighboring gene nudix hydrolase 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    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
    PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001166102.2NP_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/Swiss-Prot
      P49821
      Related
      ENSP00000436766.1, ENST00000529927.5
      Conserved Domains (4) summary
      PRK13596
      Location:26444
      PRK13596; NADH dehydrogenase I subunit F; Provisional
      pfam01512
      Location:71240
      Complex1_51K; Respiratory-chain NADH dehydrogenase 51 Kd subunit
      pfam10531
      Location:266318
      SLBB; SLBB domain
      pfam10589
      Location:357438
      NADH_4Fe-4S; NADH-ubiquinone oxidoreductase-F iron-sulfur binding region
    2. NM_007103.4NP_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
      P49821
      UniProtKB/TrEMBL
      E5KNH5
      Related
      ENSP00000322450.6, ENST00000322776.11
      Conserved Domains (1) summary
      PRK13596
      Location:35453
      PRK13596; NADH dehydrogenase I subunit F; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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