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. Al... See more...

Aliases for NDUFA8 Gene

Aliases for NDUFA8 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A8 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 8 3 4
  • 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-PGIV 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8 (19kD, PGIV) 2
  • NADH:Ubiquinone Oxidoreductase PGIV Subunit 3
  • Complex I PGIV Subunit 2
  • CI-19KD 3
  • CI-19kD 4
  • 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 Leigh Syndrome and Mitochondrial Metabolism Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH09J122158 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 442 2.1 FOXK2 CTCF SIN3A NRF1 POLR2G PHF8 ZFX POLR2A ZBTB10 RFX1 MORN5 NDUFA8 lnc-NDUFA8-2 lnc-LHX6-1 L13304-039 L13715-031
GH09J122144 Enhancer 0.6 Ensembl 4.8 +15.4 15418 2.8 CTCF NR2F2 FOXA2 RAD21 TAL1 TCF12 GATA2 SMC3 GATA1 POLR2A MRRF RBM18 TTLL11 LHX6 PTGS1 OR1K1 NDUFA8 lnc-LHX6-1 MIR4478 L13304-039
GH09J122140 Enhancer 0.7 ENCODE 0.4 +19.2 19222 0.2 FOXA2 CEBPB SAP130 HDAC1 CREM FOXP1 CHD4 RARA ZNF792 NR2F6 MRRF RBM18 TTLL11 OR1K1 lnc-LHX6-1 NDUFA8 MIR4478 L13304-039 L13715-031
GH09J122142 Enhancer 0.6 Ensembl 0.4 +18.9 18919 0.2 RBM25 SRF SAP130 HDAC1 ZMYM3 CHD4 RARA KDM1A ZNF792 NFIL3 MRRF RBM18 TTLL11 OR1K1 lnc-LHX6-1 NDUFA8 MIR4478 L13304-039 L13715-031
GH09J122138 Enhancer 0.6 Ensembl 0.4 +20.8 20818 0.8 TEAD1 SAP130 POLR2A FOSL2 ZNF3 NR2F6 TEAD3 ARID4B HLF ELF3 MRRF RBM18 TTLL11 OR1K1 lnc-LHX6-1 MIR4478 NDUFA8 L13304-039 L13715-031
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA8

Top Transcription factor binding sites by QIAGEN in the NDUFA8 gene promoter:
  • Brachyury
  • GATA-1
  • GATA-3
  • GR
  • GR-alpha
  • GR-beta
  • POU3F1
  • STAT5A
  • STAT5B

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)
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.

    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, Lys65, Lys106, 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

Gene Families for NDUFA8 Gene

Protein Domains for NDUFA8 Gene

Blocks:
  • CHCH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94833, Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa (NDUFA8), mRNA (B1AM93_HUMAN)
  • NADH-ubiquinone oxidoreductase 19 kDa subunit (NDUA8_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for NDUFA8 Gene

Gene Ontology (GO) - Molecular Function for NDUFA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21310150
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
GO:0044877 protein-containing 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:
  • Ndufa8 Ndufa8<tm1b(EUCOMM)Hmgu>
  • Ndufa8 Ndufa8<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA8

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. Mitochondrion.

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
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

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 23676665
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

(6) 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
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
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 :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA8

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

Expression for NDUFA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NDUFA8 Gene



Protein tissue co-expression partners for NDUFA8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA8 31 30
  • 90.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA8 31 30
  • 86.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa8 17 31 30
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA8 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA8 31
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa8 30
  • 80.2 (n)
chicken
(Gallus gallus)
Aves NDUFA8 31 30
  • 72.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA8 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa8 30
  • 72.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6970 30
zebrafish
(Danio rerio)
Actinopterygii ndufa8 31 30
  • 72.51 (n)
OneToOne
zgc73139 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8533 30
fruit fly
(Drosophila melanogaster)
Insecta CG3683 31 32 30
  • 53.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006918 30
  • 53.21 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54F10AM.5 31 30
  • 44.36 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4447 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA8: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA8 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs200528860 Uncertain Significance: not provided 122,152,296(-) C/T MISSENSE_VARIANT
VAR_036176 A breast cancer sample p.Asn140His

Additional dbSNP identifiers (rs#s) for NDUFA8 Gene

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

(3) MalaCards diseases for NDUFA8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
mitochondrial metabolism disease
  • mitochondrial diseases
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- 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 23 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. (PMID: 23676665) Fischer M … Riemer J (Molecular biology of the cell 2013) 3 4 54
  4. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. (PMID: 21310150) Szklarczyk R … Huynen MA (FEBS letters 2011) 3 4 54
  5. 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 41 54

Products for NDUFA8 Gene

Sources for NDUFA8 Gene