Aliases for NDUFAF8 Gene

Aliases for NDUFAF8 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 8 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 8 3 4
  • C17orf89 3 4
  • Chromosome 17 Open Reading Frame 89 2

External Ids for NDUFAF8 Gene

Previous HGNC Symbols for NDUFAF8 Gene

  • C17orf89

Summaries for NDUFAF8 Gene

GeneCards Summary for NDUFAF8 Gene

NDUFAF8 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 8) is a Protein Coding gene. Diseases associated with NDUFAF8 include Mitochondrial Metabolism Disease and Mitochondrial Disorders.

UniProtKB/Swiss-Prot Summary for NDUFAF8 Gene

  • Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296).

Additional gene information for NDUFAF8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFAF8 Gene

Genomics for NDUFAF8 Gene

GeneHancer (GH) Regulatory Elements for NDUFAF8 Gene

Promoters and enhancers for NDUFAF8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFAF8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAF8

Genomic Locations for NDUFAF8 Gene

Genomic Locations for NDUFAF8 Gene
chr17:81,239,305-81,241,310
(GRCh38/hg38)
Size:
2,006 bases
Orientation:
Plus strand
chr17:79,213,039-79,215,098
(GRCh37/hg19)
Size:
2,060 bases
Orientation:
Plus strand

Genomic View for NDUFAF8 Gene

Genes around NDUFAF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF8 Gene

Proteins for NDUFAF8 Gene

  • Protein details for NDUFAF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1L188-NDUF8_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8
    Protein Accession:
    A1L188

    Protein attributes for NDUFAF8 Gene

    Size:
    74 amino acids
    Molecular mass:
    7756 Da
    Quaternary structure:
    • Interacts with NDUFAF5.

neXtProt entry for NDUFAF8 Gene

Post-translational modifications for NDUFAF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFAF8 Gene

No data available for DME Specific Peptides for NDUFAF8 Gene

Domains & Families for NDUFAF8 Gene

Gene Families for NDUFAF8 Gene

Protein Domains for NDUFAF8 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with NDUFAF8: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NDUFAF8 Gene

Function for NDUFAF8 Gene

Molecular function for NDUFAF8 Gene

UniProtKB/Swiss-Prot Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296).

Phenotypes From GWAS Catalog for NDUFAF8 Gene

Gene Ontology (GO) - Molecular Function for NDUFAF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27499296
genes like me logo Genes that share ontologies with NDUFAF8: view

Phenotypes for NDUFAF8 Gene

genes like me logo Genes that share phenotypes with NDUFAF8: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFAF8 Gene

Localization for NDUFAF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF8 Gene

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 NDUFAF8 gene
Compartment Confidence
mitochondrion 5
extracellular 2
golgi apparatus 1
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFAF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 27499296
genes like me logo Genes that share ontologies with NDUFAF8: view

Pathways & Interactions for NDUFAF8 Gene

PathCards logo

SuperPathways for NDUFAF8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NDUFAF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 27499296
genes like me logo Genes that share ontologies with NDUFAF8: view

No data available for Pathways by source and SIGNOR curated interactions for NDUFAF8 Gene

Drugs & Compounds for NDUFAF8 Gene

No Compound Related Data Available

Transcripts for NDUFAF8 Gene

mRNA/cDNA for NDUFAF8 Gene

3 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF8 Gene

No ASD Table

Relevant External Links for NDUFAF8 Gene

GeneLoc Exon Structure for
NDUFAF8

Expression for NDUFAF8 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF8 Gene

Orthologs for NDUFAF8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFAF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17orf89 31
  • 99 (a)
OneToOne
C17H17orf89 30
  • 97.75 (n)
dog
(Canis familiaris)
Mammalia C9H17orf89 30
  • 88.58 (n)
C17orf89 31
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690871 30
  • 86.3 (n)
cow
(Bos Taurus)
Mammalia C19H17orf89 30
  • 85.84 (n)
mouse
(Mus musculus)
Mammalia 1810043H04Rik 31 30
  • 85.39 (n)
OneToOne
Ndufaf8 17
zebrafish
(Danio rerio)
Actinopterygii C12H17orf89 31
  • 51 (a)
OneToOne
Species where no ortholog for NDUFAF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFAF8 Gene

ENSEMBL:
Gene Tree for NDUFAF8 (if available)
TreeFam:
Gene Tree for NDUFAF8 (if available)

Paralogs for NDUFAF8 Gene

Pseudogenes.org Pseudogenes for NDUFAF8 Gene

genes like me logo Genes that share paralogs with NDUFAF8: view

No data available for Paralogs for NDUFAF8 Gene

Variants for NDUFAF8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAF8 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
691641 Likely Pathogenic: Mitochondrial diseases 81,239,648(+) C/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
691642 Pathogenic: Mitochondrial diseases 81,239,949(+) C/T NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
691643 Pathogenic: Mitochondrial diseases 81,239,364(+) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
691644 Pathogenic: Mitochondrial diseases 81,239,402(+) C/CCGCCTCCG FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFAF8 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF8 Gene

Variant ID Type Subtype PubMed ID
dgv46n68 CNV loss 17160897
esv26223 CNV gain+loss 19812545
esv2758707 CNV gain 17122850
nsv1064123 CNV gain 25217958
nsv1160499 CNV deletion 26073780
nsv2161 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv457971 CNV loss 19166990
nsv470619 CNV loss 18288195
nsv509677 CNV insertion 20534489
nsv576172 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv952389 CNV deletion 24416366

Additional Variant Information for NDUFAF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NDUFAF8 Gene

Disorders for NDUFAF8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NDUFAF8 Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
mitochondrial metabolism disease
  • mitochondrial diseases
mitochondrial disorders
  • mitochondrial encephalomyopathies
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFAF8

genes like me logo Genes that share disorders with NDUFAF8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFAF8 Gene

Publications for NDUFAF8 Gene

  1. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 2 3 4 54
  2. Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. (PMID: 17287340) Molina H … Pandey A (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. Gene Essentiality Profiling Reveals Gene Networks and Synthetic Lethal Interactions with Oncogenic Ras. (PMID: 28162770) Wang T … Sabatini DM (Cell 2017) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for NDUFAF8 Gene

Sources for NDUFAF8 Gene