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Aliases for NDUFV1 Gene

Aliases for NDUFV1 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit V1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 51 KDa Subunit 3 4
  • Complex I 51kDa Subunit 2 3
  • UQOR1 3 4
  • Mitochondrial NADH:Ubiquinone Oxidoreductase 51 Kda Subunit 3
  • Mitochondrial NADH Dehydrogenase Ubiquinone Flavoprotein 1 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 1 (51kD) 2
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 1 2
  • Complex I, Mitochondrial Respiratory Chain 3
  • NADH Dehydrogenase Flavoprotein 1 4
  • Complex I 51 Kda Subunit 3
  • Complex I-51kD 4
  • Mitochondrial 2
  • EC 1.6.99.5 63
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-51kD 4
  • CI-51K 3
  • CI51KD 3

External Ids for NDUFV1 Gene

Previous GeneCards Identifiers for NDUFV1 Gene

  • GC11P069897
  • GC11P069070
  • GC11P067149
  • GC11P067130
  • GC11P067374
  • GC11P063703

Summaries for NDUFV1 Gene

Entrez Gene Summary for NDUFV1 Gene

  • 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]

GeneCards Summary for NDUFV1 Gene

NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) is a Protein Coding gene. Diseases associated with NDUFV1 include mitochondrial complex i deficiency and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and Metformin Pathway, Pharmacodynamics. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFV1 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Gene Wiki entry for NDUFV1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFV1 Gene

Genomics for NDUFV1 Gene

Regulatory Elements for NDUFV1 Gene

Promoters for NDUFV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFV1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFV1 Gene

Chromosome:
11
Start:
67,606,852 bp from pter
End:
67,612,541 bp from pter
Size:
5,690 bases
Orientation:
Plus strand

Genomic View for NDUFV1 Gene

Genes around NDUFV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV1 Gene

Proteins for NDUFV1 Gene

  • Protein details for NDUFV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49821-NDUV1_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
    Protein Accession:
    P49821
    Secondary Accessions:
    • O60924
    • O60940
    • Q16104
    • Q6IBR3
    • Q96BF8
    • Q96HS7

    Protein attributes for NDUFV1 Gene

    Size:
    464 amino acids
    Molecular mass:
    50817 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.

    Alternative splice isoforms for NDUFV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFV1 Gene

Proteomics data for NDUFV1 Gene at MOPED

Selected DME Specific Peptides for NDUFV1 Gene

Post-translational modifications for NDUFV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for NDUFV1 Gene

Gene Families for NDUFV1 Gene

Graphical View of Domain Structure for InterPro Entry

P49821

UniProtKB/Swiss-Prot:

NDUV1_HUMAN :
  • Belongs to the complex I 51 kDa subunit family.
Family:
  • Belongs to the complex I 51 kDa subunit family.
genes like me logo Genes that share domains with NDUFV1: view

Function for NDUFV1 Gene

Molecular function for NDUFV1 Gene

GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),flavoprotein 1,located at the inner mitochondrial membrane,expressed in testis and pancreas
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + acceptor = NAD(+) + reduced acceptor.
UniProtKB/Swiss-Prot Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Enzyme Numbers (IUBMB) for NDUFV1 Gene

Gene Ontology (GO) - Molecular Function for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 8288251
GO:0010181 contributes_to FMN binding IEA,IBA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA,IBA --
genes like me logo Genes that share ontologies with NDUFV1: view
genes like me logo Genes that share phenotypes with NDUFV1: view

Human Phenotype Ontology for NDUFV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NDUFV1 Gene

miRTarBase miRNAs that target NDUFV1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFV1 Gene

Localization for NDUFV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFV1 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFV1 Gene COMPARTMENTS Subcellular localization image for NDUFV1 gene
Compartment Confidence
mitochondrion 5

No data available for Gene Ontology (GO) - Cellular Components for NDUFV1 Gene

Pathways & Interactions for NDUFV1 Gene

genes like me logo Genes that share pathways with NDUFV1: view

Gene Ontology (GO) - Biological Process for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS,TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

No data available for SIGNOR curated interactions for NDUFV1 Gene

Drugs & Compounds for NDUFV1 Gene

(7) Drugs for NDUFV1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Flavin Mononucleotide Experimental Pharma 6
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0

(5) Additional Compounds for NDUFV1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with NDUFV1: view

Transcripts for NDUFV1 Gene

Unigene Clusters for NDUFV1 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4:
SP5:
SP6:
SP7: - - - - - -
SP8: - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - -
SP11: - - - - - - -
SP12:
SP13: - - - - -
SP14: - - - -
SP15: - - -
SP16: - -
SP17: - - - -
SP18: - - - - - - - - -
SP19: - - - - -
SP20: -

ExUns: 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for NDUFV1 Gene

GeneLoc Exon Structure for
NDUFV1
ECgene alternative splicing isoforms for
NDUFV1

Expression for NDUFV1 Gene

mRNA expression in normal human tissues for NDUFV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFV1 Gene

This gene is overexpressed in Heart (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFV1 Gene



SOURCE GeneReport for Unigene cluster for NDUFV1 Gene Hs.7744

genes like me logo Genes that share expression patterns with NDUFV1: view

Protein tissue co-expression partners for NDUFV1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFV1 Gene

Orthologs for NDUFV1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFV1 36
  • 100 (a)
OneToOne
NDUFV1 35
  • 99.57 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia NDUFV1 36
  • 97 (a)
OneToOne
NDUFV1 35
  • 90.59 (n)
  • 97.33 (a)
dog
(Canis familiaris)
Mammalia NDUFV1 35
  • 90.95 (n)
  • 97.41 (a)
NDUFV1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufv1 16
Ndufv1 35
  • 89.77 (n)
  • 96.25 (a)
Ndufv1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFV1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufv1 35
  • 89.77 (n)
  • 95.14 (a)
chicken
(Gallus gallus)
Aves NDUFV1 35
  • 82.03 (n)
  • 91.28 (a)
NDUFV1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFV1 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ndufv1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufv1 35
  • 74.29 (n)
  • 90.53 (a)
Str.3261 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8347 35
zebrafish
(Danio rerio)
Actinopterygii ndufv1 35
  • 75.32 (n)
  • 87.7 (a)
ndufv1 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010039 35
  • 72.98 (n)
  • 86.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11423 36
  • 47 (a)
OneToMany
CG8102 36
  • 48 (a)
OneToMany
CG9140 36
  • 80 (a)
OneToMany
CG11423 37
  • 74 (a)
CG8102 37
  • 54 (a)
CG9140 37
  • 85 (a)
CG9140 35
  • 73.19 (n)
  • 83.11 (a)
worm
(Caenorhabditis elegans)
Secernentea nuo-1 36
  • 75 (a)
OneToOne
nuo-1 35
  • 67.49 (n)
  • 79.87 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.367 35
soybean
(Glycine max)
eudicotyledons Gma.10702 35
thale cress
(Arabidopsis thaliana)
eudicotyledons CI51 35
  • 67.22 (n)
  • 76 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3082 35
corn
(Zea mays)
Liliopsida Zm.6628 35
rice
(Oryza sativa)
Liliopsida Os.7359 35
Os07g0645400 35
  • 66.51 (n)
  • 75.76 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28740 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04044 35
  • 68.21 (n)
  • 74.25 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2993 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 78 (a)
OneToOne
Species with no ortholog for NDUFV1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFV1 Gene

ENSEMBL:
Gene Tree for NDUFV1 (if available)
TreeFam:
Gene Tree for NDUFV1 (if available)

Paralogs for NDUFV1 Gene

No data available for Paralogs for NDUFV1 Gene

Variants for NDUFV1 Gene

Sequence variations from dbSNP and Humsavar for NDUFV1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_008846 Mitochondrial complex I deficiency (MT-C1D)
VAR_008847 Leigh syndrome (LS)
VAR_014480 -
rs1043770 - 67,611,123(+) TATTC(A/T)ACATC reference, missense
VAR_019534 Mitochondrial complex I deficiency (MT-C1D)

Structural Variations from Database of Genomic Variants (DGV) for NDUFV1 Gene

Variant ID Type Subtype PubMed ID
nsv897801 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
esv2422195 CNV Duplication 17116639
dgv1196n71 CNV Loss 21882294
nsv897815 CNV Loss 21882294
nsv468606 CNV Gain 19166990
dgv1197n71 CNV Loss 21882294
dgv154n27 CNV Loss 19166990
dgv1198n71 CNV Loss 21882294
dgv1199n71 CNV Loss 21882294

Variation tolerance for NDUFV1 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFV1 Gene

HapMap Linkage Disequilibrium report
NDUFV1
Human Gene Mutation Database (HGMD)
NDUFV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFV1 Gene

Disorders for NDUFV1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NDUFV1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
reticulate acropigmentation of kitamura
  • rapk
interstitial lung and liver disease
  • infantile liver failure syndrome 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUV1_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10080174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:10080174, ECO:0000269 PubMed:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NDUFV1 Gene

myoclonic epilepsy,hypotonia,leukodystrophy,complex 1 deficiency

Relevant External Links for NDUFV1

Genetic Association Database (GAD)
NDUFV1
Human Genome Epidemiology (HuGE) Navigator
NDUFV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFV1
genes like me logo Genes that share disorders with NDUFV1: view

Publications for NDUFV1 Gene

  1. The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. (PMID: 1478657) Spencer S.R. … Ketterer B. (Genomics 1992) 2 3 4 67
  2. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (PMID: 8288251) Ali S.T. … Robinson B.H. (Genomics 1993) 3 23 25
  3. Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. (PMID: 14662656) Grad L.I. … Lemire B.D. (Hum. Mol. Genet. 2004) 23 25
  4. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PMID: 11349233) Benit P. … Roetig A. (Am. J. Hum. Genet. 2001) 3 23
  5. Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma- interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? (PMID: 9571201) Schuelke M. … van den Heuvel L. (Biochem. Biophys. Res. Commun. 1998) 3 25

Products for NDUFV1 Gene

Sources for NDUFV1 Gene

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