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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 Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 8 3
  • 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. Diseases associated with NDUFA8 include Mitochondrial Complex I Deficiency and Mitochondrial Metabolism Disease. 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 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

Additional gene information for NDUFA8 Gene

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

Genomics for NDUFA8 Gene

GeneHancer (GH) Regulatory Elements for NDUFA8 Gene

Promoters and enhancers for NDUFA8 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
GH09I122159 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.3 303 1.8 HDGF CLOCK ATF1 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF48 YY1 NDUFA8 MORN5 MIR4478
GH09I122158 Enhancer 0.6 ENCODE 550.8 +1.4 1392 0.2 SMARCA5 HDGF CTCF ARID4B RAD21 NFIC ZNF341 ZNF143 PRDM10 ZNF600 NDUFA8 MORN5 MIR4478
GH09I122125 Enhancer 1.1 Ensembl ENCODE 0.3 +33.4 33354 2.8 ELF3 HDGF PKNOX1 ATF1 RB1 ARID4B SIN3A ZNF2 KLF5 DNMT3B TTLL11 RBM18 MRRF PTGS1 OR1K1 MIR4478 NDUFA8
GH09I122140 Enhancer 0.7 ENCODE 0.4 +19.2 19222 0.2 ELF3 SOX13 FOXA2 ZNF792 SAP130 ARID4B ZMYM3 RARA NR2F6 CREM MRRF RBM18 TTLL11 OR1K1 NDUFA8 MIR4478
GH09I122123 Enhancer 0.8 ENCODE 0.3 +36.7 36652 0.2 ATF1 SIN3A RAD21 ARID2 EGR1 ZNF143 RCOR1 ATF7 RUNX3 CREM MIR4478 NDUFA8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NDUFA8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA8 gene promoter:

Genomic Locations for NDUFA8 Gene

Genomic Locations for NDUFA8 Gene
chr9:122,132,466-122,159,819
(GRCh38/hg38)
Size:
27,354 bases
Orientation:
Minus strand
chr9:124,894,745-124,922,098
(GRCh37/hg19)

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.

    Three dimensional structures from OCA and Proteopedia for NDUFA8 Gene

neXtProt entry for NDUFA8 Gene

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 Lys19, isoforms=65, isoforms=106, and Lys114

Other Protein References for NDUFA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA8 Gene

Domains & Families for NDUFA8 Gene

Gene 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.
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.

Phenotypes From GWAS Catalog for NDUFA8 Gene

Gene Ontology (GO) - Molecular Function for NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
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

CRISPR Products

Inhibitory RNA 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
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 NDUFA8 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005758 mitochondrial intermembrane space IEA,IDA 21310150
GO:0016020 membrane IEA --
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 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 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
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 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

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(322) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NDUFA8 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NDUFA8 Gene



Protein tissue co-expression partners for NDUFA8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA8 Gene:

NDUFA8

SOURCE GeneReport for Unigene cluster for NDUFA8 Gene:

Hs.495039

Evidence on tissue expression from TISSUES for NDUFA8 Gene

  • Nervous system(4.7)
  • Kidney(4.4)
  • Liver(4.3)
  • Pancreas(4.2)
  • Heart(2.7)
  • Muscle(2.7)
  • Gall bladder(2.1)
  • Intestine(2.1)
  • Spleen(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with NDUFA8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia NDUFA8 33 34
  • 90.06 (n)
cow
(Bos Taurus)
Mammalia NDUFA8 33 34
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Ndufa8 33 16 34
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA8 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA8 34
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa8 33
  • 80.2 (n)
chicken
(Gallus gallus)
Aves NDUFA8 33 34
  • 72.32 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA8 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa8 33
  • 72.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6970 33
zebrafish
(Danio rerio)
Actinopterygii ndufa8 33 34
  • 72.51 (n)
zgc73139 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8533 33
fruit fly
(Drosophila melanogaster)
Insecta CG3683 35 33 34
  • 53.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006918 33
  • 53.21 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54F10AM.5 33 34
  • 44.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4447 34
  • 31 (a)
OneToOne
Species where no ortholog for NDUFA8 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)
  • 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 Variation AA Info Type
VAR_036176 A breast cancer sample p.Asn140His
rs1000150238 -- 122,137,022(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000278827 -- 122,159,820(-) A/C upstream_transcript_variant
rs1000357653 -- 122,134,044(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000382584 -- 122,140,859(-) A/G genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv6702 CNV insertion 18451855
nsv831715 CNV gain 17160897

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)

Additional Variant Information for NDUFA8 Gene

Human Gene Mutation Database (HGMD)
NDUFA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA8

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

Disorders for NDUFA8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFA8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFA8

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 NDUFA8: view

No data available for 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 (Human genetics 1998) 3 4 22 58
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  3. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. (PMID: 21310150) Szklarczyk R … Huynen MA (FEBS letters 2011) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for NDUFA8 Gene

Sources for NDUFA8 Gene

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