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Aliases for NDUFA5 Gene

Aliases for NDUFA5 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A5 2 3 5
  • NADH-Ubiquinone Oxidoreductase 13 KDa-B Subunit 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5, 13kDa 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 2 3
  • Complex I 13kDa Subunit B 2 3
  • Complex I Subunit B13 3 4
  • Type I Dehydrogenase 2 3
  • Ubiquinone Reductase 2 3
  • CI-13KD-B 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 (13kD, B13) 2
  • Complex I-13kD-B 4
  • CI-13kB 3
  • UQOR13 3
  • NUFM 3
  • B13 3

External Ids for NDUFA5 Gene

Previous GeneCards Identifiers for NDUFA5 Gene

  • GC07M121658
  • GC07M122721
  • GC07M122735
  • GC07M122775
  • GC07M122964
  • GC07M123177
  • GC07M117543

Summaries for NDUFA5 Gene

Entrez Gene Summary for NDUFA5 Gene

  • This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

GeneCards Summary for NDUFA5 Gene

NDUFA5 (NADH:Ubiquinone Oxidoreductase Subunit A5) is a Protein Coding gene. Diseases associated with NDUFA5 include leber hereditary optic neuropathy and korean hemorrhagic fever. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for NDUFA5 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 NDUFA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA5 Gene

Genomics for NDUFA5 Gene

Regulatory Elements for NDUFA5 Gene

Genomic Location for NDUFA5 Gene

Chromosome:
7
Start:
123,536,997 bp from pter
End:
123,601,651 bp from pter
Size:
64,655 bases
Orientation:
Minus strand

Genomic View for NDUFA5 Gene

Genes around NDUFA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA5 Gene

Proteins for NDUFA5 Gene

  • Protein details for NDUFA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16718-NDUA5_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5
    Protein Accession:
    Q16718
    Secondary Accessions:
    • B2RD98
    • Q5H9R2
    • Q6IRX7

    Protein attributes for NDUFA5 Gene

    Size:
    116 amino acids
    Molecular mass:
    13459 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Alternative splice isoforms for NDUFA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA5 Gene

Proteomics data for NDUFA5 Gene at MOPED

Post-translational modifications for NDUFA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for NDUFA5 Gene

Domains & Families for NDUFA5 Gene

Protein Domains for NDUFA5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16718

UniProtKB/Swiss-Prot:

NDUA5_HUMAN :
  • Belongs to the complex I NDUFA5 subunit family.
Family:
  • Belongs to the complex I NDUFA5 subunit family.
genes like me logo Genes that share domains with NDUFA5: view

Function for NDUFA5 Gene

Molecular function for NDUFA5 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),component alpha 5,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),13kDa,,homologous to bovine and rat subunit B13
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.
genes like me logo Genes that share phenotypes with NDUFA5: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA5 Gene

Localization for NDUFA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA5 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA5 Gene COMPARTMENTS Subcellular localization image for NDUFA5 gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 1
extracellular 1

Gene Ontology (GO) - Cellular Components for NDUFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
genes like me logo Genes that share ontologies with NDUFA5: view

Pathways & Interactions for NDUFA5 Gene

genes like me logo Genes that share pathways with NDUFA5: view

Gene Ontology (GO) - Biological Process for NDUFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS,TAS --
genes like me logo Genes that share ontologies with NDUFA5: view

No data available for SIGNOR curated interactions for NDUFA5 Gene

Drugs & Compounds for NDUFA5 Gene

(7) Drugs for NDUFA5 Gene - From: Novoseek, 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

(8) Additional Compounds for NDUFA5 Gene - From: HMDB and Novoseek

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 NDUFA5: view

Transcripts for NDUFA5 Gene

Unigene Clusters for NDUFA5 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5:
SP6: - - -
SP7: - - - - - - -
SP8:
SP9:

Relevant External Links for NDUFA5 Gene

GeneLoc Exon Structure for
NDUFA5
ECgene alternative splicing isoforms for
NDUFA5

Expression for NDUFA5 Gene

mRNA expression in normal human tissues for NDUFA5 Gene

Protein differential expression in normal tissues from HIPED for NDUFA5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4) and Heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA5 Gene



SOURCE GeneReport for Unigene cluster for NDUFA5 Gene Hs.651219

mRNA Expression by UniProt/SwissProt for NDUFA5 Gene

Q16718-NDUA5_HUMAN
Tissue specificity: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain.
genes like me logo Genes that share expression patterns with NDUFA5: view

Protein tissue co-expression partners for NDUFA5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NDUFA5 Gene

Orthologs for NDUFA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA5 36
  • 100 (a)
OneToOne
NDUFA5 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia NDUFA5 35
  • 87.93 (n)
  • 87.07 (a)
NDUFA5 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
NDUFA5 35
  • 90.8 (n)
  • 91.38 (a)
mouse
(Mus musculus)
Mammalia Ndufa5 16
Ndufa5 36
  • 83 (a)
OneToOne
Ndufa5 35
  • 83.62 (n)
  • 82.76 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA5 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA5 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa5 35
  • 83.33 (n)
  • 80.17 (a)
chicken
(Gallus gallus)
Aves NDUFA5 35
  • 73.56 (n)
  • 71.55 (a)
NDUFA5 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA5 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa5 35
  • 68.97 (n)
  • 71.55 (a)
Str.15481 35
zebrafish
(Danio rerio)
Actinopterygii ndufa5 36
  • 68 (a)
OneToOne
ndufa5 35
  • 63.51 (n)
  • 68.1 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005621 35
  • 56.52 (n)
  • 53.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6463 36
  • 47 (a)
OneToOne
CG6463 35
  • 53.62 (n)
  • 50.43 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_C33A12.1 35
  • 56.76 (n)
  • 54.05 (a)
C33A12.1 37
  • 54 (a)
C33A12.1 36
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2952 36
  • 44 (a)
OneToOne
Species with no ortholog for NDUFA5:
  • 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)
  • 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)
  • 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 (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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFA5 Gene

ENSEMBL:
Gene Tree for NDUFA5 (if available)
TreeFam:
Gene Tree for NDUFA5 (if available)

Paralogs for NDUFA5 Gene

(1) SIMAP similar genes for NDUFA5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NDUFA5: view

No data available for Paralogs for NDUFA5 Gene

Variants for NDUFA5 Gene

Sequence variations from dbSNP and Humsavar for NDUFA5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs11004 -- 123,541,356(+) TTTCC(A/C/G/T)TTTGT nc-transcript-variant, utr-variant-3-prime
rs1525630 -- 123,545,147(-) TAATT(A/C/T)TACAT intron-variant
rs1525631 -- 123,544,670(-) TACTG(G/T)GTCAT intron-variant
rs1608860 -- 123,562,099(+) TTGTG(C/T)GTGAA intron-variant
rs1972158 -- 123,551,269(-) ttcac(A/G)ccatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA5 Gene

Variant ID Type Subtype PubMed ID
nsv524192 CNV Gain 19592680
nsv889125 CNV Gain 21882294
nsv831116 CNV Gain+Loss 17160897
nsv508479 CNV Loss 20534489
esv270745 CNV Insertion 20981092

Variation tolerance for NDUFA5 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA5 Gene

HapMap Linkage Disequilibrium report
NDUFA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA5 Gene

Disorders for NDUFA5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFA5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber's hereditary optic neuropathy
korean hemorrhagic fever
  • hemorrhagic fever with renal syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA5

Genetic Association Database (GAD)
NDUFA5
Human Genome Epidemiology (HuGE) Navigator
NDUFA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA5
genes like me logo Genes that share disorders with NDUFA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA5 Gene

Publications for NDUFA5 Gene

  1. Cloning of the human NADH:ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. (PMID: 9021153) Russell M.W. … Brody L.C. (Mamm. Genome 1997) 2 3 4 67
  2. Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. (PMID: 20376309) Garbian Y. … Mishmar D. (PLoS ONE 2010) 3 23
  3. Identification of NADH dehydrogenase 1 alpha subcomplex 5 capable to transform murine fibroblasts and overexpressed in human cervical carcinoma cell lines. (PMID: 16329995) Shimada T. … Katamine S. (Biochem. Biophys. Res. Commun. 2006) 3 23
  4. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PMID: 9763677) Emahazion T. … Brookes A.J. (Cytogenet. Cell Genet. 1998) 2 3
  5. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3

Products for NDUFA5 Gene

Sources for NDUFA5 Gene

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