Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NDUFS1 Gene

Aliases for NDUFS1 Gene

  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q Reductase) 2 3
  • Complex I 75kDa Subunit 2 3
  • CI-75Kd 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme Q Reductase) 2
  • Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit 3
  • Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit 3
  • NADH-Ubiquinone Oxidoreductase 75 KDa Subunit 2
  • Complex I-75kD 4
  • Mitochondrial 2
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • PRO1304 3
  • CI-75k 3

External Ids for NDUFS1 Gene

Previous GeneCards Identifiers for NDUFS1 Gene

  • GC02M205205
  • GC02M205712
  • GC02M206950
  • GC02M207188
  • GC02M207190
  • GC02M206813
  • GC02M206695
  • GC02M206986
  • GC02M198836

Summaries for NDUFS1 Gene

Entrez Gene Summary for NDUFS1 Gene

  • The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for NDUFS1 Gene

NDUFS1 (NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS1 include progressive cavitating leukoencephalopathy and mitochondrial complex i deficiency. Among its related pathways are Metabolism and Alzheimers disease. GO annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFS1 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). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.

Gene Wiki entry for NDUFS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS1 Gene

Genomics for NDUFS1 Gene

Regulatory Elements for NDUFS1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFS1 Gene

Chromosome:
2
Start:
206,114,817 bp from pter
End:
206,159,603 bp from pter
Size:
44,787 bases
Orientation:
Minus strand

Genomic View for NDUFS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS1 Gene

Proteins for NDUFS1 Gene

  • Protein details for NDUFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28331-NDUS1_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
    Protein Accession:
    P28331
    Secondary Accessions:
    • B4DIN9
    • B4DJA0
    • B4DPG1
    • B4DUC1
    • E7ENF3
    • Q53TR8
    • Q8N1C4
    • Q8TCC9

    Protein attributes for NDUFS1 Gene

    Size:
    727 amino acids
    Molecular mass:
    79468 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Note=Binds 1 [2Fe-2S] cluster per subunit.;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 2 [4Fe-4S] clusters per subunit.;
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Alternative splice isoforms for NDUFS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS1 Gene

Proteomics data for NDUFS1 Gene at MOPED

Post-translational modifications for NDUFS1 Gene

  • Ubiquitination at Lys 499
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for NDUFS1 Gene

Domains & Families for NDUFS1 Gene

Graphical View of Domain Structure for InterPro Entry

P28331

UniProtKB/Swiss-Prot:

NDUS1_HUMAN :
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Belongs to the complex I 75 kDa subunit family.
Domain:
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Contains 1 4Fe-4S Mo/W bis-MGD-type domain.
Family:
  • Belongs to the complex I 75 kDa subunit family.
genes like me logo Genes that share domains with NDUFS1: view

Function for NDUFS1 Gene

Molecular function for NDUFS1 Gene

GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),75kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 1,inner mitochondrial membrane
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). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.

Enzyme Numbers (IUBMB) for NDUFS1 Gene

Gene Ontology (GO) - Molecular Function for NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15186778
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
GO:0009055 electron carrier activity NAS 1935949
GO:0016491 oxidoreductase activity --
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
genes like me logo Genes that share ontologies with NDUFS1: view
genes like me logo Genes that share phenotypes with NDUFS1: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS1 Gene

Localization for NDUFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS1 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFS1 Gene COMPARTMENTS Subcellular localization image for NDUFS1 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005758 mitochondrial intermembrane space IDA 15186778
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NDUFS1: view

Pathways & Interactions for NDUFS1 Gene

genes like me logo Genes that share pathways with NDUFS1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NDUFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9878551
GO:0008637 apoptotic mitochondrial changes IDA 15186778
GO:0022904 respiratory electron transport chain TAS --
GO:0042773 ATP synthesis coupled electron transport --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFS1: view

No data available for SIGNOR curated interactions for NDUFS1 Gene

Drugs & Compounds for NDUFS1 Gene

(6) Drugs for NDUFS1 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Agonist, Activator 0

(5) Additional Compounds for NDUFS1 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 NDUFS1: view

Transcripts for NDUFS1 Gene

Unigene Clusters for NDUFS1 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - - - - - - - -
SP3: - - - - -
SP4:

Relevant External Links for NDUFS1 Gene

GeneLoc Exon Structure for
NDUFS1
ECgene alternative splicing isoforms for
NDUFS1

Expression for NDUFS1 Gene

mRNA expression in normal human tissues for NDUFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFS1 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.6) and Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for NDUFS1 Gene

This gene is overexpressed in Heart (18.5), Frontal cortex (7.2), and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS1 Gene



SOURCE GeneReport for Unigene cluster for NDUFS1 Gene Hs.471207

genes like me logo Genes that share expression patterns with NDUFS1: view

Protein tissue co-expression partners for NDUFS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NDUFS1 Gene

Orthologs for NDUFS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS1 35
  • 93.76 (n)
  • 97.39 (a)
NDUFS1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS1 35
  • 94.31 (n)
  • 97.8 (a)
NDUFS1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs1 35
  • 90.74 (n)
  • 94.09 (a)
Ndufs1 16
Ndufs1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS1 35
  • 99.4 (n)
  • 99.45 (a)
NDUFS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs1 35
  • 91.1 (n)
  • 94.91 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFS1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFS1 35
  • 78.82 (n)
  • 86.8 (a)
NDUFS1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs1 35
  • 75.42 (n)
  • 86.11 (a)
zebrafish
(Danio rerio)
Actinopterygii ndufs1 35
  • 71.62 (n)
  • 81.02 (a)
wufb33h05 35
ndufs1 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ND75 37
  • 60 (a)
ND75 35
  • 57.61 (n)
  • 63.73 (a)
ND75 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001653 35
  • 59.88 (n)
  • 66.95 (a)
worm
(Caenorhabditis elegans)
Secernentea nuo-5 35
  • 58.59 (n)
  • 59.35 (a)
nuo-5 36
  • 57 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB1467 35
  • 58.54 (n)
  • 55.8 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3751 35
rice
(Oryza sativa)
Liliopsida Os.12117 35
Os03g0713400 35
  • 58.16 (n)
  • 57.33 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6543 35
corn
(Zea mays)
Liliopsida Zm.17248 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01765 35
  • 55.75 (n)
  • 56.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7103 36
  • 73 (a)
OneToOne
Species with no ortholog for NDUFS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFS1 Gene

ENSEMBL:
Gene Tree for NDUFS1 (if available)
TreeFam:
Gene Tree for NDUFS1 (if available)

Paralogs for NDUFS1 Gene

No data available for Paralogs for NDUFS1 Gene

Variants for NDUFS1 Gene

Sequence variations from dbSNP and Humsavar for NDUFS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1044049 - 206,126,784(-) AAGAA(G/T)TCTCT reference, missense
rs1044120 -- 206,123,849(-) AAGAG(A/G/T)TTCAA utr-variant-3-prime
rs1127565 -- 206,153,656(-) AAGAA(A/G)GGCCT reference, missense, utr-variant-5-prime
rs1127566 Likely benign 206,144,039(-) GATGC(A/G/T)CTCTC synonymous-codon, reference
rs1127567 -- 206,141,954(-) ATGCT(A/G)GAATT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NDUFS1 Gene

Variant ID Type Subtype PubMed ID
nsv875735 CNV Gain 21882294
nsv875736 CNV Gain+Loss 21882294
nsv875737 CNV Gain 21882294
nsv821884 CNV Gain 20364138
esv2664428 CNV Deletion 23128226
nsv821885 CNV Gain 20364138

Variation tolerance for NDUFS1 Gene

Residual Variation Intolerance Score: 4.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS1 Gene

HapMap Linkage Disequilibrium report
NDUFS1
Human Gene Mutation Database (HGMD)
NDUFS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS1 Gene

Disorders for NDUFS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
progressive cavitating leukoencephalopathy
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leber hereditary optic neuropathy
  • optic atrophy, leber's
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association

UniProtKB/Swiss-Prot

NDUS1_HUMAN
  • 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:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFS1

Genetic Association Database (GAD)
NDUFS1
Human Genome Epidemiology (HuGE) Navigator
NDUFS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS1
genes like me logo Genes that share disorders with NDUFS1: view

No data available for Genatlas for NDUFS1 Gene

Publications for NDUFS1 Gene

  1. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PMID: 18435906) Koopman W.J. … Willems P.H. (Biochim. Biophys. Acta 2008) 23 67
  2. [Screening human gastric carcinoma-associated antigens by serologic proteome analysis]. (PMID: 17927877) Zeng X. … Su Q. (Ai Zheng 2007) 23 67
  3. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. (PMID: 16478720) Iuso A. … Papa S. (J. Biol. Chem. 2006) 23 67
  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) 23 67
  5. Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34. (PMID: 1505218) Duncan A.M. … Robinson B.H. (Cytogenet. Cell Genet. 1992) 23 67

Products for NDUFS1 Gene

Sources for NDUFS1 Gene

Back to Top

Content