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Aliases for NDUFS3 Gene

Aliases for NDUFS3 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S3 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial 2 3
  • NADH-Ubiquinone Oxidoreductase 30 KDa Subunit 3 4
  • Complex I 30kDa Subunit 2 3
  • Complex I-30kD 3 4
  • CI-30kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3 (30kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase-Ubiquinone 30 KDa Subunit 3
  • EC 1.6.99.5 56
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-30 3

External Ids for NDUFS3 Gene

Previous GeneCards Identifiers for NDUFS3 Gene

  • GC11P049512
  • GC11P048478
  • GC11P047632
  • GC11P047564
  • GC11P047544
  • GC11P047601
  • GC11P047301

Summaries for NDUFS3 Gene

Entrez Gene Summary for NDUFS3 Gene

  • This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

GeneCards Summary for NDUFS3 Gene

NDUFS3 (NADH:Ubiquinone Oxidoreductase Core Subunit S3) is a Protein Coding gene. Diseases associated with NDUFS3 include Leigh Syndrome and Mitochondrial Complex I Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for NDUFS3 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 NDUFS3 Gene

Additional gene information for NDUFS3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS3 Gene

Genomics for NDUFS3 Gene

GeneHancer (GH) Regulatory Elements for NDUFS3 Gene

Promoters and enhancers for NDUFS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I047577 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 550.4 +13.5 13530 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 KBTBD4 ENSG00000231880 NDUFS3 FNBP4 NUP160 ENSG00000200090 ENSG00000270060 DDB2 ZNF408 CELF1
GH11I047564 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.5 546 2.1 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 CELF1 PTPMT1 NDUFS3 NUP160 FNBP4 ENSG00000270060 ZNF408 DDB2 C1QTNF4 ENSG00000255197
GH11I047521 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12.6 -41.1 -41120 4.8 HDGF PKNOX1 FEZF1 FOS ATF7 DEK JUNB GMEB1 SMARCA4 STAT3 CELF1 C1QTNF4 NDUFS3 PTPMT1 FAM180B ENSG00000231880 RNU5E-10P C11orf49 ENSG00000270072 RN7SL652P
GH11I047506 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -51.8 -51755 14.4 HDGF PKNOX1 ZFP64 ZNF213 FOS JUNB ZC3H11A REST SREBF1 SMARCA4 ENSG00000270072 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 ZNF408 DDB2 AMBRA1 CELF1
GH11I047537 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 -25.9 -25943 4.4 PKNOX1 INSM2 KLF17 SIN3A FEZF1 ZNF2 RAD21 ZNF335 ZNF366 SCRT2 C1QTNF4 NDUFS3 PTPMT1 CELF1 KBTBD4 ENSG00000231880 RNU5E-10P MADD MTCH2 FNBP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NDUFS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFS3 gene promoter:

Genomic Locations for NDUFS3 Gene

Genomic Locations for NDUFS3 Gene
chr11:47,565,336-47,584,563
(GRCh38/hg38)
Size:
19,228 bases
Orientation:
Plus strand
chr11:47,586,888-47,606,115
(GRCh37/hg19)

Genomic View for NDUFS3 Gene

Genes around NDUFS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS3 Gene

Proteins for NDUFS3 Gene

  • Protein details for NDUFS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75489-NDUS3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
    Protein Accession:
    O75489
    Secondary Accessions:
    • B2R9J1
    • B4DFM8
    • Q9UNQ8

    Protein attributes for NDUFS3 Gene

    Size:
    264 amino acids
    Molecular mass:
    30242 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3.

    Three dimensional structures from OCA and Proteopedia for NDUFS3 Gene

    Alternative splice isoforms for NDUFS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS3 Gene

Selected DME Specific Peptides for NDUFS3 Gene

O75489:
  • LTDYGFEG
  • RRILTDY
  • ANWYERE
  • GHPFRKDFPL
  • PFRKDFPLSG

Post-translational modifications for NDUFS3 Gene

  • Ubiquitination at Lys56, Lys200, and Lys232

Other Protein References for NDUFS3 Gene

Domains & Families for NDUFS3 Gene

Gene Families for NDUFS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O75489

UniProtKB/Swiss-Prot:

NDUS3_HUMAN :
  • Belongs to the complex I 30 kDa subunit family.
Family:
  • Belongs to the complex I 30 kDa subunit family.
genes like me logo Genes that share domains with NDUFS3: view

Function for NDUFS3 Gene

Molecular function for NDUFS3 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),30kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 3,containing casein kinase 2 phosphorylation site,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).

Enzyme Numbers (IUBMB) for NDUFS3 Gene

Phenotypes From GWAS Catalog for NDUFS3 Gene

Gene Ontology (GO) - Molecular Function for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 NADH dehydrogenase activity IMP 11112787
GO:0005515 protein binding IPI 15250827
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IBA 9647766
GO:0009055 electron transfer activity NAS 9647766
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFS3: view
genes like me logo Genes that share phenotypes with NDUFS3: view

Human Phenotype Ontology for NDUFS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS3 Gene

MGI Knock Outs for NDUFS3:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NDUFS3 Gene

Localization for NDUFS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS3 Gene

Mitochondrion inner membrane.

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 NDUFS3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 9647766
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFS3: view

Pathways & Interactions for NDUFS3 Gene

genes like me logo Genes that share pathways with NDUFS3: view

Gene Ontology (GO) - Biological Process for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0021762 substantia nigra development IEP,HEP 22926577
GO:0030308 negative regulation of cell growth IMP 16826196
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0045333 cellular respiration IBA --
genes like me logo Genes that share ontologies with NDUFS3: view

No data available for SIGNOR curated interactions for NDUFS3 Gene

Drugs & Compounds for NDUFS3 Gene

(8) Drugs for NDUFS3 Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Doxorubicin Approved, Investigational Pharma Enzyme Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1828
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 129

(5) Additional Compounds for NDUFS3 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 NDUFS3: view

Transcripts for NDUFS3 Gene

Unigene Clusters for NDUFS3 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS3 Gene

No ASD Table

Relevant External Links for NDUFS3 Gene

GeneLoc Exon Structure for
NDUFS3
ECgene alternative splicing isoforms for
NDUFS3

Expression for NDUFS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFS3 Gene

Protein differential expression in normal tissues from HIPED for NDUFS3 Gene

This gene is overexpressed in Heart (9.8), Frontal cortex (7.5), and Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFS3 Gene



Protein tissue co-expression partners for NDUFS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS3 Gene:

NDUFS3

SOURCE GeneReport for Unigene cluster for NDUFS3 Gene:

Hs.502528

Evidence on tissue expression from TISSUES for NDUFS3 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(4.4)
  • Muscle(3.1)
  • Pancreas(3.1)
  • Heart(3)
  • Lung(2.7)
  • Blood(2.2)
  • Kidney(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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 NDUFS3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS3 Gene

Orthologs for NDUFS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS3 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia NDUFS3 33 34
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia NDUFS3 33 34
  • 90.03 (n)
mouse
(Mus musculus)
Mammalia Ndufs3 33 16 34
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs3 33
  • 85.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS3 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS3 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS3 33 34
  • 76.13 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFS3 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs3 33
  • 71.41 (n)
LOC394690 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24382 33
zebrafish
(Danio rerio)
Actinopterygii ndufs3 33 34
  • 72.42 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8655 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006456 33
  • 64.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12079 35 33 34
  • 64.27 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-2 33 34
  • 61.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons nad9 33
  • 57.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04074 33
  • 57.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3587 34
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1144 33
Species where no ortholog for NDUFS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 (Oryza sativa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for NDUFS3 Gene

ENSEMBL:
Gene Tree for NDUFS3 (if available)
TreeFam:
Gene Tree for NDUFS3 (if available)

Paralogs for NDUFS3 Gene

No data available for Paralogs for NDUFS3 Gene

Variants for NDUFS3 Gene

Sequence variations from dbSNP and Humsavar for NDUFS3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894270 pathogenic, Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency 47,582,436(+) C/T coding_sequence_variant, missense_variant
rs11039306 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Leigh syndrome, Mitochondrial complex I deficiency 47,584,307(+) C/T intron_variant
rs117981655 uncertain-significance, Leigh syndrome, Mitochondrial complex I deficiency 47,584,469(+) T/C coding_sequence_variant, synonymous_variant
rs148331180 uncertain-significance, Mitochondrial complex I deficiency, Leigh syndrome 47,582,181(+) G/C coding_sequence_variant, missense_variant
rs28939714 pathogenic, Leigh syndrome due to mitochondrial complex I deficiency 47,582,140(+) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFS3 Gene

Variant ID Type Subtype PubMed ID
nsv314 CNV deletion 18451855
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv832142 CNV loss 17160897

Variation tolerance for NDUFS3 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS3 Gene

Human Gene Mutation Database (HGMD)
NDUFS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS3 Gene

Disorders for NDUFS3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NDUFS3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
tungiasis
  • chigger flea
ethmoid sinus cancer
  • malignant neoplasm of ethmoidal sinus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFS3

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 NDUFS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFS3 Gene

Publications for NDUFS3 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. 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 44 58
  3. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A … Nijtmans LG (American journal of human genetics 2009) 3 4 58
  4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 44 58
  5. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PMID: 17601350) Harris SE … Deary IJ (BMC genetics 2007) 3 44 58

Products for NDUFS3 Gene

Sources for NDUFS3 Gene

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