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

Gene ID: 4723, updated on 3-May-2020

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

Genomic context

See NDUFV1 in Genome Data Viewer
Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67606936..67612554)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67374323..67380012)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase pi 1 Neighboring gene chromosome 11 putative open reading frame 72 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
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
FMN binding IEA
Inferred from Electronic Annotation
more info
 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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.

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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