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 liberate... See more...

Aliases for NDUFV1 Gene

Aliases for NDUFV1 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit V1 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial 2 3 4
  • 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
  • Complex I, Mitochondrial Respiratory Chain 3
  • NADH Dehydrogenase Flavoprotein 1 4
  • Complex I 51 Kda Subunit 3
  • Complex I-51kD 4
  • EC 1.6.99.5 52
  • EC 1.6.99.3 4
  • EC 7.1.1.2 4
  • CI-51kD 4
  • CI-51K 3
  • CI51KD 3
  • MC1DN4 3

External Ids for NDUFV1 Gene

Previous GeneCards Identifiers for NDUFV1 Gene

  • GC11P069897
  • GC11P069070
  • GC11P067624
  • GC11P067149
  • GC11P067130
  • GC11P067374
  • GC11P063703
  • GC11P067612

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, Nuclear Type 4 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NDUFV1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFV1 Gene

Genomics for NDUFV1 Gene

GeneHancer (GH) Regulatory Elements for NDUFV1 Gene

Promoters and enhancers for NDUFV1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFV1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFV1

Top Transcription factor binding sites by QIAGEN in the NDUFV1 gene promoter:
  • GATA-2
  • HOXA5
  • LUN-1
  • MyoD
  • Nkx2-5
  • Pax-4a
  • Pax-5
  • Pax-6
  • Pbx1a
  • Zic3

Genomic Locations for NDUFV1 Gene

Genomic Locations for NDUFV1 Gene
chr11:67,605,653-67,612,554
(GRCh38/hg38)
Size:
6,902 bases
Orientation:
Plus strand
chr11:67,374,323-67,380,012
(GRCh37/hg19)
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.

    Three dimensional structures from OCA and Proteopedia for NDUFV1 Gene

    Alternative splice isoforms for NDUFV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFV1 Gene

Selected DME Specific Peptides for NDUFV1 Gene

P49821:
  • SGLRGRGGAGF
  • GAGAYICGEETA
  • YIYIRGE
  • CTPCREG

Post-translational modifications for NDUFV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NDUFV1 Gene

Gene Families for NDUFV1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NDUFV1 Gene

Blocks:
  • Respiratory-chain NADH dehydrogenase, 51 kDa subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFV1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79021, highly similar to NADH-ubiquinone oxidoreductase 51 kDa subunit, mitochondrial (EC 1.6.5.3) (B4DE93_HUMAN)
  • NADH-ubiquinone oxidoreductase 51 kDa subunit (NDUV1_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=A + H(+) + NADH = AH2 + NAD(+); Xref=Rhea:RHEA:11356, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17499, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.6.99.3;.
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

Enzyme Numbers (IUBMB) for NDUFV1 Gene

Phenotypes From GWAS Catalog for NDUFV1 Gene

Gene Ontology (GO) - Molecular Function for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24344204
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 8288251
GO:0010181 FMN binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
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 Models for NDUFV1 Gene

MGI Knock Outs for NDUFV1:
  • Ndufv1 Ndufv1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for NDUFV1 Gene

miRTarBase miRNAs that target NDUFV1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFV1

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFV1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

Pathways & Interactions for NDUFV1 Gene

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

SIGNOR curated interactions for NDUFV1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 24746669
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

Drugs & Compounds for NDUFV1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Flavin Mononucleotide Approved, Investigational Pharma 11
Iron Approved, Experimental Pharma 1496
Coenzyme Q10 Approved, Investigational Nutra 159

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6
genes like me logo Genes that share compounds with NDUFV1: view

Transcripts for NDUFV1 Gene

mRNA/cDNA for NDUFV1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFV1

Clone Products

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

Expression for NDUFV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NDUFV1 Gene



Protein tissue co-expression partners for NDUFV1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFV1

SOURCE GeneReport for Unigene cluster for NDUFV1 Gene:

Hs.7744

Evidence on tissue expression from TISSUES for NDUFV1 Gene

  • Nervous system(5)
  • Eye(4.7)
  • Kidney(4.7)
  • Liver(4.5)
  • Intestine(4.2)
  • Lung(4)
  • Muscle(3.5)
  • Skin(3.4)
  • Stomach(3.3)
  • Heart(3.2)
  • Blood(3.1)
  • Pancreas(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFV1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns 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 31 30
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFV1 31 30
  • 90.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFV1 31 30
  • 90.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufv1 17 31 30
  • 89.77 (n)
rat
(Rattus norvegicus)
Mammalia Ndufv1 30
  • 89.77 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFV1 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFV1 31 30
  • 82.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFV1 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufv1 30
  • 74.29 (n)
Str.3261 30
African clawed frog
(Xenopus laevis)
Amphibia ndufv1-prov 30
zebrafish
(Danio rerio)
Actinopterygii ndufv1 31 30
  • 75.32 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8347 30
fruit fly
(Drosophila melanogaster)
Insecta CG9140 31 32 30
  • 73.19 (n)
OneToMany
CG8102 31 32
  • 48 (a)
OneToMany
CG11423 31 32
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010039 30
  • 72.98 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-1 31 30
  • 67.49 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons CI51 30
  • 67.22 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.367 30
soybean
(Glycine max)
eudicotyledons Gma.10702 30
rice
(Oryza sativa)
Liliopsida Os07g0645400 30
  • 66.51 (n)
Os.7359 30
barley
(Hordeum vulgare)
Liliopsida Hv.3082 30
wheat
(Triticum aestivum)
Liliopsida Ta.28740 30
corn
(Zea mays)
Liliopsida Zm.6628 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 78 (a)
OneToOne
Cin.2993 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04044 30
  • 68.21 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2993 30
Species where no ortholog for NDUFV1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFV1: view image

Paralogs for NDUFV1 Gene

No data available for Paralogs for NDUFV1 Gene

Variants for NDUFV1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFV1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
638374 Uncertain Significance: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 67,610,540(+) C/T MISSENSE_VARIANT
675482 Benign: not provided 67,610,287(+) C/T INTRON_VARIANT
675483 Benign: not provided 67,611,236(+) G/T INTRON_VARIANT
681938 Likely Benign: not provided 67,611,997(+) G/A INTRON_VARIANT
683144 Benign: not provided 67,606,685(+) A/G NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFV1 Gene

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

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv154n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1982n54 CNV loss 21841781
esv2422195 CNV duplication 17116639
nsv468606 CNV gain 19166990
nsv951023 CNV deletion 24416366

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)

Additional Variant Information for NDUFV1 Gene

Human Gene Mutation Database (HGMD)
NDUFV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFV1

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

Disorders for NDUFV1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NDUFV1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 4
  • mc1dn4
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome
  • ls
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
alexander disease
  • alxdrd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUV1_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance. {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

Additional Disease Information for NDUFV1

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

Publications for NDUFV1 Gene

  1. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PMID: 11349233) Bénit P … Rötig A (American journal of human genetics 2001) 3 4 23 54
  2. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (PMID: 8288251) Ali ST … Robinson BH (Genomics 1993) 3 4 23 54
  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 SR … Ketterer B (Genomics 1992) 2 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41 54

Products for NDUFV1 Gene