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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. 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 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA8 Gene

Genomics for NDUFA8 Gene

Regulatory Elements for NDUFA8 Gene

Enhancers for NDUFA8 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
GH09G122159 1 ENCODE 0.7 +0.2 200 1.6 HDGF ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B YY1 ELK1 NDUFA8 MIR4478
GH09G122158 0.7 ENCODE 0.7 +1.4 1393 0.2 HDGF CTCF ARID4B RAD21 SMC3 ZNF600 PRDM10 SMARCA5 ATF2 NFIC NDUFA8 MIR4478
GH09G122125 1.2 Ensembl ENCODE 0.3 +33.4 33355 2.8 ELF3 HDGF ATF1 PKNOX1 RB1 ARID4B SIN3A DNMT3B ZNF2 RAD21 TTLL11 MRRF RBM18 PTGS1 OR1K1 MIR4478 NDUFA8
GH09G122140 0.7 ENCODE 0.4 +19.2 19223 0.2 ELF3 SOX13 FOXA2 ZNF792 SAP130 ARID4B ZMYM3 RARA NR2F6 ZNF652 MRRF RBM18 TTLL11 OR1K1 NDUFA8 MIR4478
GH09G122123 0.8 ENCODE 0.3 +36.7 36653 0.2 BCOR CTCF ESRRA ATF1 ZMYM3 RAD21 TEAD3 EGR1 SMC3 ZNF143 MIR4478 NDUFA8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA8 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241018 419 1600 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B YY1 ELK1 ZNF143

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

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 posLast=1919, Lys65, posLast=106106, and Lys114
  • Modification sites at PhosphoSitePlus

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

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.

Gene Ontology (GO) - Molecular Function for NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity 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

Clone Products

Flow Cytometry 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

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 IDA,IEA 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
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

(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

Clone Products

Flow Cytometry 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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia NDUFA8 34 35
  • 90.06 (n)
cow
(Bos Taurus)
Mammalia NDUFA8 34 35
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Ndufa8 34 16 35
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA8 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA8 35
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa8 34
  • 80.2 (n)
chicken
(Gallus gallus)
Aves NDUFA8 34 35
  • 72.32 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA8 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa8 34
  • 72.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6970 34
zebrafish
(Danio rerio)
Actinopterygii ndufa8 34 35
  • 72.51 (n)
zgc73139 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8533 34
fruit fly
(Drosophila melanogaster)
Insecta CG3683 36 34 35
  • 53.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006918 34
  • 53.21 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54F10AM.5 34 35
  • 44.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4447 35
  • 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 Sequence Context AA Info Type
VAR_036176 A breast cancer sample
rs1000150238 -- 122,137,022(+) TTCCT(C/T)CACAC intron-variant
rs1000278827 -- 122,159,820(+) CAACC(A/C)CGAGC upstream-variant-2KB, reference, missense
rs1000357653 -- 122,134,044(+) TCTAA(A/T)ACTTG intron-variant
rs1000382584 -- 122,140,859(+) TAAGT(A/G)TCTTC 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)

Relevant External Links 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

(1) MalaCards diseases for NDUFA8 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 NDUFA8

Genetic Association Database (GAD)
NDUFA8
Human Genome Epidemiology (HuGE) Navigator
NDUFA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA8
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. (Hum. Genet. 1998) 3 4 22 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. 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
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64

Products for NDUFA8 Gene

Sources for NDUFA8 Gene

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