NDUFAF6 Gene (Protein Coding)

NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6

GC08P094895
GIFtS:
35
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. [pro... See more...

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 4
  • Putative Phytoene Synthase 3 4
  • C8orf38 3 4
  • UPF0551 Protein C8orf38, Mitochondrial 3
  • Chromosome 8 Open Reading Frame 38 2
  • MC1DN17 3

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 Mitochondrial Complex I Deficiency, Nuclear Type 17 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity. An important paralog of this gene is MMGT1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for NDUFAF6 Gene

Genomics for NDUFAF6 Gene

GeneHancer (GH) Regulatory Elements for NDUFAF6 Gene

Promoters and enhancers for NDUFAF6 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 NDUFAF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAF6

Genomic Locations for NDUFAF6 Gene

Genomic Locations for NDUFAF6 Gene
chr8:94,895,451-95,116,455
(GRCh38/hg38)
Size:
221,005 bases
Orientation:
Plus strand
chr8:95,907,995-96,128,683
(GRCh37/hg19)
Size:
220,689 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 Structure • Gene Density

RefSeq DNA sequence for NDUFAF6 Gene

Proteins for NDUFAF6 Gene

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  • 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=Truncated N-terminus.; 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

Protein Expression for NDUFAF6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NDUFAF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFAF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAF6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57629 (B4DW83_HUMAN)
  • Putative phytoene synthase (CH038_HUMAN)

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

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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

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:
  • Ndufaf6 Ndufaf6<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
cytosol 2
cytoskeleton 1

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 IBA 21873635
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

Gene Ontology (GO) - Biological Process for NDUFAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for NDUFAF6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NDUFAF6 Gene

20 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for NDUFAF6 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFAF6 Gene

mRNA expression in normal human tissues for NDUFAF6 Gene
mRNA expression by GTEx 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, MaxQB, and MOPED for NDUFAF6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.6 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia NDUFAF6 31 30
  • 87.99 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia NDUFAF6 31 30
  • 87.49 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia NDUFAF6 31
  • 85 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ndufaf6 17 31 30
  • 83.18 (n)
rat
(Rattus norvegicus)
 Mammalia Ndufaf6 30
  • 81.38 (n)
oppossum
(Monodelphis domestica)
 Mammalia NDUFAF6 31
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves NDUFAF6 31
  • 78 (a)
 OneToOne
C2H8ORF38 30
  • 75.25 (n)
lizard
(Anolis carolinensis)
 Reptilia NDUFAF6 31
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ndufaf6 30
  • 70.32 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11651 30
zebrafish
(Danio rerio)
 Actinopterygii ndufaf6 31 30
  • 65.88 (n)
 OneToOne
Dr.7072 30
fruit fly
(Drosophila melanogaster)
 Insecta CG15738 31 30
  • 47.45 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000326 30
  • 44.33 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_B0334.5 30
  • 45.87 (n)
B0334.5 31
  • 23 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G62730 30
  • 50.31 (n)
rice
(Oryza sativa)
 Liliopsida Os06g0104100 30
  • 47.67 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU09517 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFAF6: view image

Paralogs for NDUFAF6 Gene

Paralogs for NDUFAF6 Gene

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

Variants for NDUFAF6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAF6 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
596994 Uncertain Significance: not provided 95,025,105(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
597047 Uncertain Significance: not provided 95,047,103(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
671643 Benign: not provided 95,035,242(+) CTT/C INTRON_VARIANT
675477 Benign: not provided 95,052,327(+) C/T INTRON_VARIANT
676241 Benign: not provided 95,031,848(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFAF6 Gene

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)

Additional Variant Information 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

(10) MalaCards diseases for NDUFAF6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 17
  • mc1dn17
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
fanconi syndrome
  • fanconi renotubular syndrome
charcot-marie-tooth disease type 2a2
  • charcot-marie-tooth disease, axonal, type 2a2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF6_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. {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.

Additional Disease Information for NDUFAF6

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  3. A mitochondrial protein compendium elucidates complex I disease biology. (PMID: 18614015) Pagliarini DJ … Mootha VK (Cell 2008) 3 4 54
  4. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. (PMID: 30642748) Baide-Mairena H … Pérez-Dueñas B (Molecular genetics and metabolism 2019) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

ExternalLinks

View latest publications for NDUFAF6 gene in Mastermind

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