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Aliases for NDUFAF6 Gene

Aliases for NDUFAF6 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6 2 3 5
  • Putative Phytoene Synthase 3 4
  • C8orf38 3 4
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6 2
  • UPF0551 Protein C8orf38, Mitochondrial 3
  • Chromosome 8 Open Reading Frame 38 2

External Ids for NDUFAF6 Gene

Previous HGNC Symbols for NDUFAF6 Gene

  • C8orf38

Previous GeneCards Identifiers for NDUFAF6 Gene

  • GC08P096037
  • GC08P095910

Summaries for NDUFAF6 Gene

Entrez Gene Summary for NDUFAF6 Gene

  • This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

GeneCards Summary for NDUFAF6 Gene

NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot for NDUFAF6 Gene

  • Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF6 Gene

Genomics for NDUFAF6 Gene

Regulatory Elements for NDUFAF6 Gene

Promoters for NDUFAF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF6 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFAF6 Gene

Chromosome:
8
Start:
94,895,451 bp from pter
End:
95,116,455 bp from pter
Size:
221,005 bases
Orientation:
Plus strand

Genomic View for NDUFAF6 Gene

Genes around NDUFAF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF6 Gene

Proteins for NDUFAF6 Gene

  • Protein details for NDUFAF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q330K2-NDUF6_HUMAN
    Recommended name:
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
    Protein Accession:
    Q330K2
    Secondary Accessions:
    • A8MT28
    • A8MWF0
    • B4DQ45
    • Q8N6U6

    Protein attributes for NDUFAF6 Gene

    Size:
    333 amino acids
    Molecular mass:
    38176 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG60807.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91734.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NDUFAF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFAF6 Gene

Proteomics data for NDUFAF6 Gene at MOPED

Post-translational modifications for NDUFAF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NDUFAF6 Gene

Domains & Families for NDUFAF6 Gene

Protein Domains for NDUFAF6 Gene

Suggested Antigen Peptide Sequences for NDUFAF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q330K2

UniProtKB/Swiss-Prot:

NDUF6_HUMAN :
  • Belongs to the NDUFAF6 family.
Family:
  • Belongs to the NDUFAF6 family.
genes like me logo Genes that share domains with NDUFAF6: view

Function for NDUFAF6 Gene

Molecular function for NDUFAF6 Gene

UniProtKB/Swiss-Prot Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.

Phenotypes for NDUFAF6 Gene

GenomeRNAi human phenotypes for NDUFAF6:
genes like me logo Genes that share phenotypes with NDUFAF6: view

Human Phenotype Ontology for NDUFAF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAF6 Gene

Localization for NDUFAF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF6 Gene

Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFAF6 Gene COMPARTMENTS Subcellular localization image for NDUFAF6 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for NDUFAF6 Gene

Pathways & Interactions for NDUFAF6 Gene

genes like me logo Genes that share pathways with NDUFAF6: view

Interacting Proteins for NDUFAF6 Gene

Gene Ontology (GO) - Biological Process for NDUFAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with NDUFAF6: view

No data available for SIGNOR curated interactions for NDUFAF6 Gene

Drugs & Compounds for NDUFAF6 Gene

No Compound Related Data Available

Transcripts for NDUFAF6 Gene

Unigene Clusters for NDUFAF6 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -
SP3: -

Relevant External Links for NDUFAF6 Gene

GeneLoc Exon Structure for
NDUFAF6
ECgene alternative splicing isoforms for
NDUFAF6

Expression for NDUFAF6 Gene

mRNA expression in normal human tissues for NDUFAF6 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF6 Gene

This gene is overexpressed in Heart (13.6), Brain (9.4), Adrenal (8.3), and Salivary gland (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFAF6 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF6 Gene Hs.729144

genes like me logo Genes that share expression patterns with NDUFAF6: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for NDUFAF6 Gene

Orthologs for NDUFAF6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFAF6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFAF6 35
  • 87.99 (n)
  • 88.29 (a)
NDUFAF6 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF6 35
  • 87.49 (n)
  • 88.29 (a)
NDUFAF6 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf6 35
  • 83.18 (n)
  • 81.98 (a)
Ndufaf6 16
Ndufaf6 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF6 35
  • 99.6 (n)
  • 99.7 (a)
NDUFAF6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf6 35
  • 81.38 (n)
  • 81.08 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF6 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H8ORF38 35
  • 75.25 (n)
  • 79.41 (a)
NDUFAF6 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF6 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf6 35
  • 70.32 (n)
  • 70.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11651 35
zebrafish
(Danio rerio)
Actinopterygii Dr.7072 35
ndufaf6 35
  • 65.88 (n)
  • 66.44 (a)
ndufaf6 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000326 35
  • 44.33 (n)
  • 41.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15738 35
  • 47.45 (n)
  • 44.16 (a)
CG15738 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_B0334.5 35
  • 45.87 (n)
  • 32.95 (a)
B0334.5 36
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G62730 35
  • 50.31 (n)
  • 42.49 (a)
rice
(Oryza sativa)
Liliopsida Os06g0104100 35
  • 47.67 (n)
  • 39.16 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09517 35
  • 44.12 (n)
  • 36.03 (a)
Species with no ortholog for NDUFAF6:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFAF6 Gene

ENSEMBL:
Gene Tree for NDUFAF6 (if available)
TreeFam:
Gene Tree for NDUFAF6 (if available)

Paralogs for NDUFAF6 Gene

No data available for Paralogs for NDUFAF6 Gene

Variants for NDUFAF6 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF6 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_047770 Mitochondrial complex I deficiency (MT-C1D)
rs605527 -- 94,989,930(-) CAACA(C/T)AGTGA intron-variant
rs471691 -- 94,974,873(+) CCAGC(C/T)AGAGG intron-variant
rs477653 -- 94,910,804(-) ACAAA(C/T)AAAGC intron-variant
rs481887 -- 94,955,610(+) TATCT(A/G)TTTCC intron-variant

Variation tolerance for NDUFAF6 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF6 Gene

HapMap Linkage Disequilibrium report
NDUFAF6
Human Gene Mutation Database (HGMD)
NDUFAF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFAF6 Gene

Disorders for NDUFAF6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NDUFAF6 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
nuclear gene-encoded leigh syndrome
mitochondrial dna deletion syndromes
  • mtdna deletion syndromes
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF6_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:18614015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFAF6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF6
genes like me logo Genes that share disorders with NDUFAF6: view

No data available for Genatlas for NDUFAF6 Gene

Publications for NDUFAF6 Gene

  1. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. (PMID: 22019594) McKenzie M. … Ryan M.T. (J. Mol. Biol. 2011) 2 3 4 67
  2. The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. (PMID: 23509070) Zhang K. … Bellen H.J. (J. Cell Biol. 2013) 2 3
  3. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. (PMID: 24162737) Lambert J.C. … Amouyel P. (Nat. Genet. 2013) 3
  4. Assembly factors of human mitochondrial complex I and their defects in disease. (PMID: 20552642) Mckenzie M. … Ryan M.T. (IUBMB Life 2010) 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3

Products for NDUFAF6 Gene

Sources for NDUFAF6 Gene

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