Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NDUFAF6 Gene

Aliases for NDUFAF6 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6 2 3
  • Putative Phytoene Synthase 3 4
  • C8orf38 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: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.

Additional gene information for NDUFAF6 Gene

No data available for CIViC summary , 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

Enhancers for NDUFAF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H094718 1.2 ENCODE 13.2 -175.4 -175370 2 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZC3H11A VIRMA RBM12B INTS8 C8orf37 ENSG00000254283 LINC01298 PSMA2P2 NDUFAF6 RPL34P18 TMEM67
GH08H094958 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.3 +65.2 65180 3 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 TCF12 ATF7 RUNX3 SP5 MIR3150BHG TP53INP1 NDUFAF6 ENSG00000253528 ENSG00000253878
GH08H094987 1.4 Ensembl ENCODE dbSUPER 6.4 +92.6 92628 1 FOXA2 ARNT ZBTB40 RAD21 YY1 FOS CAVIN1 CEBPB REST HDAC8 MIR3150BHG NDUFAF6 GC08P094978 RNU6-1209P
GH08H094946 1.3 ENCODE dbSUPER 6.8 +53.9 53853 4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 TP53INP1 NDUFAF6 C8orf37 CCNE2
GH08H094904 1.2 Ensembl ENCODE 6.5 +10.8 10819 3 HDGF FOXA2 ARID4B YBX1 YY1 ZNF143 ATF7 RUNX3 CAVIN1 REST INTS8 VIRMA TP53INP1 ENSG00000253878 NDUFAF6 CCNE2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFAF6 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227228 249 2601 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZBTB7B ZNF143 FOS SP3

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

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

Gene Families for NDUFAF6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 From GWAS Catalog for NDUFAF6 Gene

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

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 Models for NDUFAF6 Gene

MGI Knock Outs for NDUFAF6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 NDUFAF6 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 2
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for NDUFAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFAF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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 --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NDUFAF6 Gene



NURSA nuclear receptor signaling pathways regulating expression of NDUFAF6 Gene:

NDUFAF6

SOURCE GeneReport for Unigene cluster for NDUFAF6 Gene:

Hs.729144

Evidence on tissue expression from TISSUES for NDUFAF6 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NDUFAF6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF6 34 33
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF6 33 34
  • 87.99 (n)
dog
(Canis familiaris)
Mammalia NDUFAF6 33 34
  • 87.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF6 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf6 33 16 34
  • 83.18 (n)
rat
(Rattus norvegicus)
Mammalia Ndufaf6 33
  • 81.38 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF6 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAF6 34
  • 78 (a)
OneToOne
C2H8ORF38 33
  • 75.25 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFAF6 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf6 33
  • 70.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11651 33
zebrafish
(Danio rerio)
Actinopterygii ndufaf6 33 34
  • 65.88 (n)
Dr.7072 33
fruit fly
(Drosophila melanogaster)
Insecta CG15738 33 34
  • 47.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000326 33
  • 44.33 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_B0334.5 33
  • 45.87 (n)
B0334.5 34
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G62730 33
  • 50.31 (n)
rice
(Oryza sativa)
Liliopsida Os06g0104100 33
  • 47.67 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09517 33
  • 44.12 (n)
Species where no ortholog for NDUFAF6 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)
  • 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
rs137853184 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 95,032,093(+) GGCTC(A/G)GGCTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs201732170 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 95,035,527(+) AGATA(C/T)ATACT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs768273248 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 95,048,547(+) ACTTG(C/G/T)ACCTA nc-transcript-variant, reference, missense
VAR_076272 Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_076273 Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF6 Gene

Variant ID Type Subtype PubMed ID
esv25638 CNV loss 19812545
esv3618095 CNV loss 21293372
nsv1117841 CNV deletion 24896259
nsv508520 CNV deletion 20534489

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

Human Gene Mutation Database (HGMD)
NDUFAF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF6 Gene

Disorders for NDUFAF6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFAF6 Gene - From: HGMD, OMIM, ClinVar, 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
fanconi syndrome
  • fanconi-bickel syndrome
mitochondrial metabolism disease
  • mitochondrial diseases
- 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, ECO:0000269 PubMed:22019594, ECO:0000269 PubMed:26741492}. 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 MT (Journal of molecular biology 2011) 2 3 4 60
  2. The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. (PMID: 23509070) Zhang K … Bellen HJ (The Journal of cell biology 2013) 2 3 60
  3. A mitochondrial protein compendium elucidates complex I disease biology. (PMID: 18614015) Pagliarini DJ … Mootha VK (Cell 2008) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. (PMID: 26741492) Kohda M … Okazaki Y (PLoS genetics 2016) 4 60

Products for NDUFAF6 Gene

Sources for NDUFAF6 Gene

Content
Loading form....