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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFAF6 Gene

protein-coding   GIFtS: 39
GCID: GC08P095910

NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor...

(Previous name: chromosome 8 open reading frame 38)
(Previous symbol: C8orf38)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 61 2
C8orf381 2 3 5
Putative Phytoene Synthase2 3
Chromosome 8 Open Reading Frame 381
UPF0551 Protein C8orf38, Mitochondrial2

External Ids:    HGNC: 286251   Entrez Gene: 1376822   Ensembl: ENSG000001561707   OMIM: 6123925   UniProtKB: Q330K23   

Export aliases for NDUFAF6 gene to outside databases

Previous GC identifer: GC08P096037


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 due to mitochondrial complex i deficiency, and mitochondrial complex i deficiency. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NDUFAF6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NDUFAF6 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFAF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

NDUFAF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P095910:  view genomic region     (about GC identifiers)

Start:
95,907,995 bp from pter      End:
96,128,683 bp from pter
Size:
220,689 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2 (See protein sequence)
Recommended Name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor  
Size: 333 amino acids; 38176 Da
Subcellular location: Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of
the mitochondrial inner membrane
Subcellular location: Isoform 2: Cytoplasm. Nucleus
Sequence caution: Sequence=BAG60807.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=EAW91734.1; Type=Erroneous gene model prediction;
Secondary accessions: A8MT28 A8MWF0 B4DQ45 Q8N6U6
Alternative splicing: 3 isoforms:  Q330K2-1   Q330K2-2   Q330K2-3   

Explore the universe of human proteins at neXtProt for NDUFAF6: NX_Q330K2

Explore proteomics data for NDUFAF6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q330K2

  • NDUFAF6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFAF6 Protein Expression
    REFSEQ proteins: NP_689629.2  
    ENSEMBL proteins: 
     ENSP00000428034   ENSP00000379419   ENSP00000429585   ENSP00000379417   ENSP00000379430  
     ENSP00000428788   ENSP00000429038   ENSP00000430099   ENSP00000428666   ENSP00000430991  
     ENSP00000428410   ENSP00000404060   ENSP00000430311   ENSP00000430230   ENSP00000444515  
     ENSP00000286687  

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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IDA--

    NDUFAF6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    2 InterPro protein domains:
     IPR002060 Squ/phyt_synthse
     IPR008949 Terpenoid_synth

    Graphical View of Domain Structure for InterPro Entry Q330K2

    ProtoNet protein and cluster: Q330K2

    UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2
    Similarity: Belongs to the NDUFAF6 family


    NDUFAF6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUF6_HUMAN, Q330K2
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016740transferase activity IEA--
         
    NDUFAF6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFAF6:
     Synthetic lethal with Ras 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFAF6

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009058biosynthetic process IEA--
    GO:0032981mitochondrial respiratory chain complex I assembly IMP--

    NDUFAF6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NDUFAF6 (NDUF6)

    Search CenterWatch for drugs/clinical trials and news about NDUFAF6 / NDUF6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NDUFAF6 gene: 
    NM_152416.3  

    Unigene Cluster for NDUFAF6:

    NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
    Hs.729144  [show with all ESTs]
    Unigene Representative Sequence: AK023339
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000523378 ENST00000396113 ENST00000519136 ENST00000396111(uc003yhi.3)
    ENST00000521587 ENST00000521840 ENST00000396124(uc003yhj.3 uc003yhk.3)
    ENST00000518258 ENST00000523337 ENST00000517976 ENST00000520632 ENST00000522683
    ENST00000518608 ENST00000454358 ENST00000520757 ENST00000519804 ENST00000523184
    ENST00000521063

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    Additional mRNA sequence: 

    AK023339.1 AK298631.1 AK301414.1 AY444560.1 

    8 DOTS entries:

    DT.307290  DT.91735253  DT.121643312  DT.100780637  DT.434026  DT.121466957  DT.91792501  DT.121466997 

    24/83 AceView cDNA sequences (see all 83):

    BM142292 AW014847 CR621219 BE673716 NM_152416 CA424179 H88416 AI302965 
    AW016822 BE327022 BX279984 CR619997 BE798980 BX282282 BQ000389 BX490525 
    BX951662 AI969249 CR594623 BC028166 AW135713 N62402 BG149279 CK430162 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF6    About this scheme

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


    ECgene alternative splicing isoforms for NDUFAF6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    See NDUFAF6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFAF6

    SOURCE GeneReport for Unigene cluster: Hs.729144
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFAF6 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufaf61 , 5 RIKEN cDNA 2310030N02 gene5
    NADH dehydrogenase (ubiquinone) complex I, assembly more1
    83.18(n)1
    81.98(a)1
      4 (4.91 cM)5
    769471  NM_001085493.11  NP_001078962.11 
     110510455 
    chicken
    (Gallus gallus)
    Aves C2H8orf381 chromosome 2 open reading frame, human C8orf38 76.03(n)
    80.15(a)
      420233  XM_418344.3  XP_418344.3 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAF66
    NADH dehydrogenase (ubiquinone) complex I, assembl...
    71(a)
    1 ↔ 1
    4(19425858-19448884)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.116512 Xenopus laevis transcribed sequence with weak similarity more 74.15(n)    BX853823.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.70722 Transcribed sequence with weak similarity to protein more 74.33(n)    BM140741.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG157381 CG15738 47.67(n)
    44.49(a)
      32151  NM_132537.1  NP_572765.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_B0334.51 Protein B0334.5 45.76(n)
    32.1(a)
      174761  NM_064057.6  NP_496458.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G627301 isoprenoid biosynthesis enzyme domain-containing protein 49.03(n)
    41.24(a)
      842571  NM_104950.3  NP_564800.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01041001 hypothetical protein 47.67(n)
    39.16(a)
      4339852  NM_001063083.1  NP_001056548.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/731 SNPs in NDUFAF6 are shown (see all 731)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0477704
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0477702 Q R mis40--------
    rs2015187791,2
    C--91261758(+) ATGCTC/TTTTGT 1 -- int10--------
    rs2011074241,2
    --91264655(+) TTCTT-/TCTTTTT 1 -- int10--------
    rs1997771541,2
    --91264656(+) TCTTT-/CTTTTT 1 -- int10--------
    rs112951611,2
    C--96041601(+) CCTCA-/TTTTTT 1 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs349602101,2
    C--96047806(+) AAAAAA/-TACCA 1 -- spd11Minor allele frequency- -:0.00NA 2
    rs113200191,2
    C--96048176(+) GGTTT-/TGGGCA 1 -- int10--------
    rs1998461151,2
    C--96051211(+) TTTTT-/TGAGAC 1 -- int10--------
    rs1132872811,2
    F--96051212(+) GTTTGT/GTTTTT 1 -- int12Minor allele frequency- G:0.10CSA WA 120
    rs351045781,2
    C--96053783(+) ATGCT-/CTTTGTT 1 -- int12Minor allele frequency- CT:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for NDUFAF6 (95907995 - 96128683 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NDUFAF6: --
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612392   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for NDUFAF6:    About MalaCards
    leigh syndrome due to mitochondrial complex i deficiency    mitochondrial complex i deficiency    mitochondrial dna deletion syndromes    mitochondrial dna-associated leigh syndrome and narp
    leber hereditary optic neuropathy    mitochondrial disorders    leukodystrophy    myopathy
    neuropathy    liver disease    parkinson's disease    gastric cancer


    NDUFAF6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for NDUFAF6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDUFAF6 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with NDUFAF6)
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    1. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. (PubMed id 22019594)1, 2, 3 McKenzie M....Ryan M.T. (2011)
    2. A mitochondrial protein compendium elucidates complex I disease biology. (PubMed id 18614015)1, 2 Pagliarini D.J.... Mootha V.K. (2008)
    3. The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. (PubMed id 23509070)1 Zhang K....Bellen H.J. (2013)
    4. Assembly factors of human mitochondrial complex I and their defects in disease. (PubMed id 20552642)1 Mckenzie M. and Ryan M.T. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    6. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PubMed id 19463981)1 Saada A....Nijtmans L.G. (2009)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    9. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 137682 HGNC: 28625 AceView: MGC40214 Ensembl:ENSG00000156170 euGenes: HUgn137682
    ECgene: NDUFAF6 H-InvDB: NDUFAF6

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for NDUFAF6 Pharmacogenomics, SNPs, Pathways

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    Patent Information for NDUFAF6 gene:
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