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Aliases for NDUFV1 Gene

Aliases for NDUFV1 Gene

  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa 2 3
  • UQOR1 3 4 6
  • NADH-Ubiquinone Oxidoreductase 51 KDa Subunit 3 4
  • Complex I 51kDa Subunit 2 3
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial 3
  • 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

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 Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa) is a Protein Coding gene. Diseases associated with NDUFV1 include mitochondrial complex i deficiency and alexander disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and NAD 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

Genomic Location for NDUFV1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV1 Gene

Regulatory Elements 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; Note=Binds 1 FMN.;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    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

Domains for NDUFV1 Gene

Gene Families for NDUFV1 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Graphical View of Domain Structure for InterPro Entry

P49821

UniProtKB/Swiss-Prot:

NDUV1_HUMAN
Family:
  • Belongs to the complex I 51 kDa subunit family.:
    • P49821
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 --
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 8288251
GO:0010181 FMN binding IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

Phenotypes for NDUFV1 Gene

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

miRNA for NDUFV1 Gene

miRTarBase miRNAs that target NDUFV1

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
genes like me logo Genes that share ontologies with NDUFV1: view

Pathways 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 9878551
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with NDUFV1: view

Compounds for NDUFV1 Gene

(10) HMDB Compounds for NDUFV1 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Flavin Mononucleotide
  • FMN
146-17-8
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(1) Drugbank Compounds for NDUFV1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
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

Integrated Proteomics: protein expression 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 expressions with NDUFV1: view

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 35
  • 99.57 (n)
  • 99.78 (a)
NDUFV1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFV1 35
  • 90.59 (n)
  • 97.33 (a)
NDUFV1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFV1 35
  • 90.95 (n)
  • 97.41 (a)
NDUFV1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufv1 35
  • 89.77 (n)
  • 96.25 (a)
Ndufv1 16
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 35
  • 73.19 (n)
  • 83.11 (a)
CG9140 36
  • 80 (a)
OneToMany
CG8102 37
  • 54 (a)
CG11423 37
  • 74 (a)
CG9140 37
  • 85 (a)
worm
(Caenorhabditis elegans)
Secernentea nuo-1 35
  • 67.49 (n)
  • 79.87 (a)
nuo-1 36
  • 75 (a)
OneToOne
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 MAF
rs1043770 - 67,611,123(+) TATTC(A/T)ACATC reference, missense
rs1043934 -- 67,612,454(+) TGCCT(C/T)TTAGC reference, missense
rs1127436 -- 67,610,999(+) GGAGT(G/T)TTTGG reference, synonymous-codon
rs1127501 -- 67,612,236(+) GTGCT(C/T)TGGGT reference, synonymous-codon
rs1127511 -- 67,612,375(+) AGGGT(A/C/T)TGATC missense, reference, synonymous-codon

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

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

(1) OMIM Diseases for NDUFV1 Gene (161015)

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.

(2) University of Copenhagen DISEASES for NDUFV1 Gene

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

Publications for NDUFV1 Gene

  1. 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 4 23 25
  2. 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 4 23
  3. 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
  4. 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 4 25
  5. The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. (PMID: 9892733) de Coo R.F.M. … van Oost B.A. (Mamm. Genome 1999) 3 4

Products for NDUFV1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NDUFV1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFV1
    • Block miRNA regulation of NDUFV1 using miScript Target Protectors

    Sources for NDUFV1 Gene

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