This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chro... See more...

Aliases for NDUFS5 Gene

Aliases for NDUFS5 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S5 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 5 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 5, 15kDa (NADH-Coenzyme Q Reductase) 2 3
  • Complex I-15 KDa 3 4
  • CI-15 KDa 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 5 (15kD) (NADH-Coenzyme Q Reductase) 2
  • NADH:Ubiquinone Oxidoreductase 15 KDa IP Subunit 3
  • NADH-Ubiquinone Oxidoreductase 15 KDa Subunit 4
  • Complex I 51kDa Subunit 2
  • CI-15k 3
  • CI15K 3

External Ids for NDUFS5 Gene

Previous GeneCards Identifiers for NDUFS5 Gene

  • GC01P039409
  • GC01P038493
  • GC01P038955
  • GC01P038905
  • GC01P039161
  • GC01P039264
  • GC01P039491
  • GC01P037612

Summaries for NDUFS5 Gene

Entrez Gene Summary for NDUFS5 Gene

  • This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]

GeneCards Summary for NDUFS5 Gene

NDUFS5 (NADH:Ubiquinone Oxidoreductase Subunit S5) is a Protein Coding gene. Diseases associated with NDUFS5 include Mitochondrial Complex I Deficiency, Nuclear Type 1 and Visual Epilepsy. 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.

UniProtKB/Swiss-Prot Summary for NDUFS5 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Gene Wiki entry for NDUFS5 Gene

Additional gene information for NDUFS5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFS5 Gene

Genomics for NDUFS5 Gene

GeneHancer (GH) Regulatory Elements for NDUFS5 Gene

Promoters and enhancers for NDUFS5 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 NDUFS5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFS5

Top Transcription factor binding sites by QIAGEN in the NDUFS5 gene promoter:
  • ATF
  • C/EBPalpha
  • CREB
  • deltaCREB
  • E47
  • Evi-1
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for NDUFS5 Gene

Genomic Locations for NDUFS5 Gene
chr1:39,026,295-39,034,636
(GRCh38/hg38)
Size:
8,342 bases
Orientation:
Plus strand
chr1:39,491,967-39,500,308
(GRCh37/hg19)
Size:
8,342 bases
Orientation:
Plus strand

Genomic View for NDUFS5 Gene

Genes around NDUFS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS5 Gene

Proteins for NDUFS5 Gene

  • Protein details for NDUFS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43920-NDUS5_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 5
    Protein Accession:
    O43920

    Protein attributes for NDUFS5 Gene

    Size:
    106 amino acids
    Molecular mass:
    12518 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.

    Three dimensional structures from OCA and Proteopedia for NDUFS5 Gene

neXtProt entry for NDUFS5 Gene

Post-translational modifications for NDUFS5 Gene

  • Ubiquitination at Lys8, Lys28, and Lys101
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFS5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFS5 Gene

Domains & Families for NDUFS5 Gene

Gene Families for NDUFS5 Gene

Protein Domains for NDUFS5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFS5 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 15 kDa subunit (NDUS5_HUMAN)
  • cDNA, FLJ92475, Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa(NADH-coenzyme Q reductase) (NDUFS5), mRNA (Q6IBA0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43920

UniProtKB/Swiss-Prot:

NDUS5_HUMAN :
  • Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
  • Belongs to the complex I NDUFS5 subunit family.
Domain:
  • Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
Family:
  • Belongs to the complex I NDUFS5 subunit family.
genes like me logo Genes that share domains with NDUFS5: view

Function for NDUFS5 Gene

Molecular function for NDUFS5 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),15kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 5,inner mitochondrial membrane,expressed in heart,skeletal muscle,liver,kidney,fetal heart

Phenotypes From GWAS Catalog for NDUFS5 Gene

Gene Ontology (GO) - Molecular Function for NDUFS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFS5: view
genes like me logo Genes that share phenotypes with NDUFS5: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS5 Gene

Localization for NDUFS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS5 Gene

Mitochondrion inner membrane; Peripheral membrane protein. Mitochondrion intermembrane space.

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 NDUFS5 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for NDUFS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16826196
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005758 mitochondrial intermembrane space IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFS5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFS5 Gene

Pathways & Interactions for NDUFS5 Gene

genes like me logo Genes that share pathways with NDUFS5: view

Gene Ontology (GO) - Biological Process for NDUFS5 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:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS5: view

No data available for SIGNOR curated interactions for NDUFS5 Gene

Drugs & Compounds for NDUFS5 Gene

(6) Drugs for NDUFS5 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
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFS5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFS5: view

Transcripts for NDUFS5 Gene

mRNA/cDNA for NDUFS5 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for NDUFS5 Gene

GeneLoc Exon Structure for
NDUFS5

Expression for NDUFS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFS5 Gene

Protein differential expression in normal tissues from HIPED for NDUFS5 Gene

This gene is overexpressed in Heart (14.9) and Peripheral blood mononuclear cells (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFS5 Gene



Protein tissue co-expression partners for NDUFS5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFS5

SOURCE GeneReport for Unigene cluster for NDUFS5 Gene:

Hs.632385

Evidence on tissue expression from TISSUES for NDUFS5 Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Blood(4.3)
  • Heart(3.3)
  • Muscle(3.3)
  • Nervous system(3.3)
  • Intestine(2.8)
  • Spleen(2.6)
  • Eye(2.5)
  • Lung(2.5)
  • Adrenal gland(2.2)
  • Skin(2.2)
  • Stomach(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with NDUFS5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS5 Gene

Orthologs for NDUFS5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFS5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS5 31 30
  • 100 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs5 31
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS5 31
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS5 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS5 31
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS5 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS5 31 30
  • 59.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS5 31
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufs5 31 30
  • 65.71 (n)
OneToOne
Dr.13417 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1159 30
Species where no ortholog for NDUFS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFS5 Gene

ENSEMBL:
Gene Tree for NDUFS5 (if available)
TreeFam:
Gene Tree for NDUFS5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFS5: view image

Paralogs for NDUFS5 Gene

genes like me logo Genes that share paralogs with NDUFS5: view

No data available for Paralogs for NDUFS5 Gene

Variants for NDUFS5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFS5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
789427 Benign: not provided 39,028,754(+) C/T SYNONYMOUS_VARIANT
rs6981 Benign: not specified 39,034,514(+) G/A THREE_PRIME_UTR_VARIANT
rs201212110 - p.Pro96Ser

Additional dbSNP identifiers (rs#s) for NDUFS5 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFS5 Gene

Variant ID Type Subtype PubMed ID
esv3585778 CNV gain 21293372

Variation tolerance for NDUFS5 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFS5 Gene

Human Gene Mutation Database (HGMD)
NDUFS5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS5 Gene

Disorders for NDUFS5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFS5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFS5

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 NDUFS5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFS5 Gene

Publications for NDUFS5 Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. (PMID: 21310150) Szklarczyk R … Huynen MA (FEBS letters 2011) 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. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41 54

Products for NDUFS5 Gene

Sources for NDUFS5 Gene