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Aliases for NDUFA8 Gene

Aliases for NDUFA8 Gene

  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8, 19kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 19 KDa Subunit 3 4
  • Complex I PGIV Subunit 2 3
  • 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
  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFA8 Gene

NDUFA8 (NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8, 19kDa) is a Protein Coding gene. Diseases associated with NDUFA8 include mitochondrial complex i deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 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

Genomic Location for NDUFA8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys19, Lys65, Lys106, and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NDUFA8 Gene

Domains for NDUFA8 Gene

Gene Families for NDUFA8 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for NDUFA8 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P51970

UniProtKB/Swiss-Prot:

NDUA8_HUMAN :
  • P51970
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: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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFA8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005758 mitochondrial intermembrane space IDA 21310150
genes like me logo Genes that share ontologies with NDUFA8: view

Pathways for NDUFA8 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 9878551
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFA8: view

Compounds for NDUFA8 Gene

(8) HMDB Compounds for NDUFA8 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for NDUFA8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
genes like me logo Genes that share compounds with NDUFA8: view

Transcripts for NDUFA8 Gene

mRNA/cDNA for NDUFA8 Gene

(322) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(4) Additional mRNA 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFA8

Primer 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 for NDUFA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (4.7).

Integrated Proteomics: protein expression 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 expressions with NDUFA8: view

In Situ Assay Products

No data available for 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 35
  • 100 (n)
  • 100 (a)
NDUFA8 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA8 35
  • 86.55 (n)
  • 88.3 (a)
NDUFA8 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA8 35
  • 90.06 (n)
  • 88.3 (a)
NDUFA8 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa8 35
  • 84.02 (n)
  • 87.13 (a)
Ndufa8 16
Ndufa8 36
  • 87 (a)
OneToOne
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 35
  • 72.51 (n)
  • 74.27 (a)
ndufa8 36
  • 74 (a)
OneToOne
zgc73139 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006918 35
  • 53.21 (n)
  • 45.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3683 35
  • 53.62 (n)
  • 47.83 (a)
CG3683 36
  • 43 (a)
OneToOne
CG3683 37
  • 46 (a)
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 MAF
rs4679 -- 122,152,334(-) AAGGA(A/G)TTTAT synonymous-codon, reference
rs6822 -- 122,144,177(-) CATGC(A/G)GTTTG utr-variant-3-prime, intron-variant
rs1002279 -- 122,137,715(-) TTTCA(G/T)GTTTT intron-variant
rs1007184 -- 122,135,891(+) gccTA(A/G)CCCTG intron-variant
rs1047197 -- 122,144,253(-) TATTT(C/T)TGGAC reference, synonymous-codon, 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

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

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NDUFA8 Gene including...

Search for NDUFA8 Gene in MalaCards »

(2) University of Copenhagen DISEASES for NDUFA8 Gene

Relevant External Links for NDUFA8

Genetic Association Database (GAD)
NDUFA8
Human Genome Epidemiology (HuGE) Navigator
NDUFA8
genes like me logo Genes that share disorders with NDUFA8: view

No data available for UniProtKB/Swiss-Prot 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
  2. Renal cell carcinoma and normal kidney protein expression. (PMID: 9150947) Sarto C. … Mocarelli P. (Electrophoresis 1997) 3 4
  3. 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
  4. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for NDUFA8 Gene

Sources for NDUFA8 Gene

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