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Aliases for NDUFAF6 Gene

Aliases for NDUFAF6 Gene

  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6 2 3
  • C8orf38 3 4 6
  • Putative Phytoene Synthase 3 4
  • 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 Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include leigh syndrome with leukodystrophy and leigh syndrome. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFAF6 Gene

Start:
94,895,767 bp from pter
End:
95,116,455 bp from pter
Size:
220,689 bases
Orientation:
Plus strand

Genomic View for NDUFAF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFAF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF6 Gene

No data available for Regulatory Elements 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 for NDUFAF6 Gene

Gene Families for NDUFAF6 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for NDUFAF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q330K2

UniProtKB/Swiss-Prot:

NDUF6_HUMAN :
  • Q330K2
Family:
  • Belongs to the NDUFAF6 family.
genes like me logo Genes that share domains with NDUFAF6: view

No data available for Suggested Antigen Peptide Sequences for NDUFAF6 Gene

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.

Gene Ontology (GO) - Molecular Function for NDUFAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NDUFAF6: view

Phenotypes for NDUFAF6 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for NDUFAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 22019594
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IDA 22019594
genes like me logo Genes that share ontologies with NDUFAF6: view

No data available for Subcellular locations from COMPARTMENTS for NDUFAF6 Gene

Pathways for NDUFAF6 Gene

SuperPathways for NDUFAF6 Gene

No Data Available

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 --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 22019594
genes like me logo Genes that share ontologies with NDUFAF6: view

No data available for Pathways by source for NDUFAF6 Gene

Transcripts for NDUFAF6 Gene

Unigene Clusters for NDUFAF6 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF6

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 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 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 expressions with NDUFAF6: view

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 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 MAF
rs1031388 -- 95,037,456(+) CCCAT(C/T)GGCCC intron-variant
rs1062304 -- 95,035,479(+) GAAAA(C/T)AATTG reference, missense, utr-variant-5-prime, nc-transcript-variant
rs1349540 -- 95,058,387(+) GGGTC(A/C)CAAAT utr-variant-3-prime, downstream-variant-500B
rs2122959 -- 95,033,341(+) acccA(C/G)TCAAT intron-variant
rs2599712 -- 95,045,179(-) CCCCC(A/C/T)CTCCA intron-variant

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

(1) OMIM Diseases for NDUFAF6 Gene (612392)

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.
genes like me logo Genes that share disorders with NDUFAF6: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links 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
  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. A mitochondrial protein compendium elucidates complex I disease biology. (PMID: 18614015) Pagliarini D.J. … Mootha V.K. (Cell 2008) 3 4
  4. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A. … Nijtmans L.G. (Am. J. Hum. Genet. 2009) 3
  5. Mitochondrial DNA-Associated Leigh Syndrome and NARP (PMID: 20301352) Pagon R.A. … Stephens K. ( 1993) 3

Products for NDUFAF6 Gene

Sources for NDUFAF6 Gene

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