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Aliases for NDUFS5 Gene

Aliases for NDUFS5 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S5 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 5, 15kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 5 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. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS5 Gene

Genomics for NDUFS5 Gene

Regulatory Elements for NDUFS5 Gene

Enhancers for NDUFS5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G039025 1.1 ENCODE 70 +0.3 271 2.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 NDUFS5 MYCBP LOC101929516 AKIRIN1 SNORA55 GJA9 RRAGC PPIEL LOC105378663 GC01M038902
GH01G039016 0.8 ENCODE 65.4 -9.4 -9368 1.5 ELF3 FOXA2 ARID4B RAD21 THRB ZSCAN9 RARA FOS EGR2 CEBPB NDUFS5 AKIRIN1 KIAA0754 MACF1 GJA9 MYCBP PIR42637
GH01G038989 1.4 ENCODE dbSUPER 32.5 -35.0 -35024 4.0 HDGF FOXA2 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 NDUFS5 RHBDL2 GJA9 MYCBP UTP11 AKIRIN1 PIR42637
GH01G038984 1.5 Ensembl ENCODE dbSUPER 22.6 -40.1 -40077 2.5 PKNOX1 FOXA2 ZFP64 YY1 ZNF121 GATA2 FOS ZNF263 PAF1 REST PPIEL SF3A3 NDUFS5 AKIRIN1 EIF1P2
GH01G038999 0.8 ENCODE dbSUPER 26.1 -25.2 -25168 2.4 POU5F1 CHD1 CHD7 RBFOX2 NDUFS5 GJA9 MYCBP POU3F1 PIR42637 AKIRIN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFS5 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004998 505 1601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for NDUFS5 Gene

Chromosome:
1
Start:
39,026,295 bp from pter
End:
39,034,636 bp from pter
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.

neXtProt entry for NDUFS5 Gene

Post-translational modifications for NDUFS5 Gene

  • Ubiquitination at Lys8, posLast=2828, and posLast=101101
  • 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

Protein Domains for NDUFS5 Gene

InterPro:
ProtoNet:

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

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
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.

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

Phenotypes for NDUFS5 Gene

GenomeRNAi human phenotypes for NDUFS5:
genes like me logo Genes that share phenotypes with NDUFS5: view

Animal Model Products

CRISPR Products

Inhibitory RNA 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. 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
peroxisome 1
nucleus 1
cytosol 1

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

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

(5) Drugs for NDUFS5 Gene - From: DrugBank and HMDB

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 Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFS5: view

Transcripts for NDUFS5 Gene

mRNA/cDNA for NDUFS5 Gene

Unigene Clusters for NDUFS5 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase):
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
NDUFS5

Expression for NDUFS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NDUFS5 Gene



Protein tissue co-expression partners for NDUFS5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS5 Gene:

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

Primer Products

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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia NDUFS5 35
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs5 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS5 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS5 35
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS5 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS5 34 35
  • 59.12 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFS5 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufs5 34 35
  • 65.71 (n)
Dr.13417 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1159 34
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)

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 from dbSNP and Humsavar for NDUFS5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs6981 Benign 39,034,514(+) CTGAT(A/G)TCTGG utr-variant-3-prime
rs1000034728 -- 39,031,936(+) TGGAT(C/T)ACCTG intron-variant
rs1000375737 -- 39,025,453(+) GGATT(C/T)AAGCG upstream-variant-2KB
rs1000477408 -- 39,028,507(+) TTTCC(C/T)TGAGT intron-variant
rs1000534158 -- 39,028,252(+) CATGC(C/T)GAAAC intron-variant

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)

Relevant External Links 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

(1) MalaCards diseases for NDUFS5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFS5

Genetic Association Database (GAD)
NDUFS5
Human Genome Epidemiology (HuGE) Navigator
NDUFS5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS5
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. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 64
  2. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. (PMID: 21310150) Szklarczyk R. … Huynen M.A. (FEBS Lett. 2011) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 64
  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 S.E. … Deary I.J. (BMC Genet. 2007) 3 46 64

Products for NDUFS5 Gene

Sources for NDUFS5 Gene

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