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

Aliases for NDUFA8 Gene

Aliases for NDUFA8 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A8 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8, 19kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 19 KDa Subunit 3 4
  • Complex I-19kD 3 4
  • Complex I-PGIV 3 4
  • CI-19KD 3 4
  • CI-PGIV 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8 (19kD, PGIV) 2
  • NADH:Ubiquinone Oxidoreductase PGIV Subunit 3
  • Complex I PGIV Subunit 2
  • PGIV 3

External Ids for NDUFA8 Gene

Previous GeneCards Identifiers for NDUFA8 Gene

  • GC09M116010
  • GC09M116552
  • GC09M118360
  • GC09M120282
  • GC09M121985
  • GC09M123946
  • GC09M124906
  • GC09M094521

Summaries for NDUFA8 Gene

Entrez Gene Summary for NDUFA8 Gene

  • The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for NDUFA8 Gene

NDUFA8 (NADH:Ubiquinone Oxidoreductase Subunit A8) is a Protein Coding gene. 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 protein complex binding and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFA8 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 NDUFA8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA8 Gene

Genomics for NDUFA8 Gene

Regulatory Elements for NDUFA8 Gene

Promoters for NDUFA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA8 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA8 Gene

Chromosome:
9
Start:
122,132,466 bp from pter
End:
122,159,819 bp from pter
Size:
27,354 bases
Orientation:
Minus strand

Genomic View for NDUFA8 Gene

Genes around NDUFA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA8 Gene

Proteins for NDUFA8 Gene

  • Protein details for NDUFA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51970-NDUA8_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
    Protein Accession:
    P51970
    Secondary Accessions:
    • B1AM93
    • Q9Y6N0

    Protein attributes for NDUFA8 Gene

    Size:
    172 amino acids
    Molecular mass:
    20105 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

neXtProt entry for NDUFA8 Gene

Proteomics data for NDUFA8 Gene at MOPED

Post-translational modifications for NDUFA8 Gene

  • May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions.
  • Ubiquitination at Lys 19, Lys 65, Lys 106, and Lys 114
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NDUFA8 Gene

Domains & Families for NDUFA8 Gene

Protein Domains for NDUFA8 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P51970

UniProtKB/Swiss-Prot:

NDUA8_HUMAN :
  • Contains four 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 NDUFA8 subunit family.
Domain:
  • Contains four C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
  • Contains 2 CHCH domains.
Family:
  • Belongs to the complex I NDUFA8 subunit family.
genes like me logo Genes that share domains with NDUFA8: view

Function for NDUFA8 Gene

Molecular function for NDUFA8 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),19kDa,component alpha 8,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),expressed in fetal and adult heart,skeletal muscle,unlikely to be a common cause of complex I deficiency
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 NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding IDA 23209302
genes like me logo Genes that share ontologies with NDUFA8: view
genes like me logo Genes that share phenotypes with NDUFA8: view

Animal Models for NDUFA8 Gene

MGI Knock Outs for NDUFA8:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFA8 Gene

Localization for NDUFA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA8 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA8 Gene COMPARTMENTS Subcellular localization image for NDUFA8 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with NDUFA8: view

Pathways & Interactions for NDUFA8 Gene

genes like me logo Genes that share pathways with NDUFA8: view

Gene Ontology (GO) - Biological Process for NDUFA8 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 NDUFA8: view

No data available for SIGNOR curated interactions for NDUFA8 Gene

Drugs & Compounds for NDUFA8 Gene

(5) Drugs for NDUFA8 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 NDUFA8 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 NDUFA8: view

Transcripts for NDUFA8 Gene

mRNA/cDNA for NDUFA8 Gene

Unigene Clusters for NDUFA8 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for NDUFA8 Gene

GeneLoc Exon Structure for
NDUFA8
ECgene alternative splicing isoforms for
NDUFA8

Expression for NDUFA8 Gene

mRNA expression in normal human tissues for NDUFA8 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFA8 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for NDUFA8 Gene

This gene is overexpressed in Brain (13.9) and Heart (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA8 Gene



SOURCE GeneReport for Unigene cluster for NDUFA8 Gene Hs.495039

genes like me logo Genes that share expression patterns with NDUFA8: view

Protein tissue co-expression partners for NDUFA8 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 Expression by UniProt/SwissProt for NDUFA8 Gene

Orthologs for NDUFA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA8 36
  • 100 (a)
OneToOne
NDUFA8 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia NDUFA8 35
  • 86.55 (n)
  • 88.3 (a)
NDUFA8 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA8 36
  • 88 (a)
OneToOne
NDUFA8 35
  • 90.06 (n)
  • 88.3 (a)
mouse
(Mus musculus)
Mammalia Ndufa8 16
Ndufa8 36
  • 87 (a)
OneToOne
Ndufa8 35
  • 84.02 (n)
  • 87.13 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA8 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA8 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa8 35
  • 80.2 (n)
  • 85.45 (a)
chicken
(Gallus gallus)
Aves NDUFA8 35
  • 72.32 (n)
  • 76.61 (a)
NDUFA8 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA8 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6970 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa8 35
  • 72.9 (n)
  • 74.85 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8533 35
zebrafish
(Danio rerio)
Actinopterygii ndufa8 36
  • 74 (a)
OneToOne
ndufa8 35
  • 72.51 (n)
  • 74.27 (a)
zgc73139 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006918 35
  • 53.21 (n)
  • 45.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3683 37
  • 46 (a)
CG3683 35
  • 53.62 (n)
  • 47.83 (a)
CG3683 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y54F10AM.5 35
  • 44.36 (n)
  • 34.59 (a)
Y54F10AM.5 36
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4447 36
  • 31 (a)
OneToOne
Species with no ortholog for NDUFA8:
  • 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)
  • 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)
  • 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 NDUFA8 Gene

ENSEMBL:
Gene Tree for NDUFA8 (if available)
TreeFam:
Gene Tree for NDUFA8 (if available)

Paralogs for NDUFA8 Gene

Pseudogenes.org Pseudogenes for NDUFA8 Gene

genes like me logo Genes that share paralogs with NDUFA8: view

No data available for Paralogs for NDUFA8 Gene

Variants for NDUFA8 Gene

Sequence variations from dbSNP and Humsavar for NDUFA8 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_036176 A breast cancer sample
rs1002279 -- 122,137,715(-) TTTCA(G/T)GTTTT intron-variant
rs1537005 -- 122,148,952(+) ACTTC(C/T)GTGTA intron-variant
rs1047197 -- 122,144,253(-) TATTT(C/T)TGGAC intron-variant, reference, synonymous-codon
rs1971583 -- 122,147,836(+) ttagc(C/G/T)aggat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA8 Gene

Variant ID Type Subtype PubMed ID
nsv831715 CNV Gain 17160897
nsv893819 CNV Gain 21882294
nsv6702 CNV Insertion 18451855

Variation tolerance for NDUFA8 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA8 Gene

HapMap Linkage Disequilibrium report
NDUFA8
Human Gene Mutation Database (HGMD)
NDUFA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA8 Gene

Disorders for NDUFA8 Gene

Relevant External Links for NDUFA8

Genetic Association Database (GAD)
NDUFA8
Human Genome Epidemiology (HuGE) Navigator
NDUFA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA8

No disorders were found for NDUFA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NDUFA8 Gene

Publications for NDUFA8 Gene

  1. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. (PMID: 9860297) Triepels R. … Smeitink J. (Hum. Genet. 1998) 3 4 23 25 67
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for NDUFA8 Gene

Sources for NDUFA8 Gene

Back to Top

Content