NDUFAF6 Gene
protein-coding GIFtS: 38
GCID: GC08P095910
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NADH dehydrogenase (ubiquinone) complex I, assembly factor...(Previous name: chromosome 8 open reading frame 38 )
(Previous symbol: C8orf38)
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Aliases
for NDUFAF6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 61 2 | | C8orf381 2 3 5 | | Putative Phytoene Synthase2 3 | | MGC402141 | | Chromosome 8 Open Reading Frame 381 | | UPF0551 Protein C8orf38, Mitochondrial2 |
Export aliases for NDUFAF6 gene to outside databasesPrevious GC identifer: GC08P096037 |
Summaries
for NDUFAF6 gene(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:
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. Theencoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of themitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associatedwith complex I enzymatic deficiency. (provided by RefSeq, Nov 2011)
UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2Function: 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
|
Genomic Views
for NDUFAF6 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for NDUFAF6
Other transcription factors
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: 8q22.1NDUFAF6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P095910: view genomic region
(about GC identifiers)
Start:
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95,907,995 bp from pter |
End:
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96,128,683 bp from pter |
Size:
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220,689 bases |
Orientation:
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plus strand |
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Proteins
for NDUFAF6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 themitochondrial 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 Q8N6U6Alternative splicing: 3 isoforms: Q330K2-1 Q330K2-2 Q330K2-3 Explore the universe of human proteins at neXtProt for NDUFAF6: NX_Q330K2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q330K2
NDUFAF6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_689629.2
ENSEMBL proteins: ENSP00000428034 ENSP00000379419 ENSP00000379417 ENSP00000429585 ENSP00000379430 ENSP00000428788 ENSP00000429038 ENSP00000430099 ENSP00000428666 ENSP00000430991 ENSP00000428410 ENSP00000404060 ENSP00000430311 ENSP00000430230 ENSP00000444515 ENSP00000286687
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
NDUFAF6 for ontologies About GeneDecksing
NDUFAF6 Antibody Products:
Assay Products for NDUFAF6: |
Protein
Domains /
Families
for NDUFAF6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFAF6 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q330K2ProtoNet protein and cluster: Q330K2 UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2Similarity: Belongs to the NDUFAF6 family |
Function
for NDUFAF6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2Function: 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
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF6 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016740 | transferase activity |
IEA | -- |
NDUFAF6 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for NDUFAF6:
|
Pathways & Interactions
for NDUFAF6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0009058 | biosynthetic process |
IEA | -- | | GO:0032981 | mitochondrial respiratory chain complex I assembly |
IMP | -- |
NDUFAF6 for ontologies About GeneDecksing
|
Drugs & Compounds
for NDUFAF6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NDUFAF6
Search CenterWatch for drugs/clinical trials and news about NDUFAF6 / NDUF6
|
Transcripts
for NDUFAF6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
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: AK02333918/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000523378 ENST00000396113 ENST00000396111(uc003yhi.3) ENST00000519136
ENST00000521587 ENST00000521840 ENST00000396124(uc003yhj.3 uc003yhk.3)
ENST00000518258 ENST00000523337 ENST00000517976 ENST00000520632 ENST00000522683
ENST00000518608 ENST00000454358 ENST00000520757 ENST00000519804 ENST00000523184
ENST00000521063
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF6 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF6 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for NDUFAF6 | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA 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): BE798980 NM_152416 H88416 BX282282 CA424179 CK430162 BQ000389 AW016822 N62402 CR594623 CR621219 AA625387 AA232928 AI969249 AI610719 BE327022 BG149279 BX490525 AW014847 BM142292 AW135713 BE673716 BX279984 CR619997
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF6 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
|---|
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| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | - | | | | | |
ECgene alternative splicing isoforms for NDUFAF6
|
Expression
for NDUFAF6 gene
(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
SABiosciences Custom PCR Arrays for NDUFAF6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFAF6
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat NDUFAF6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF6 |
Orthologs
for NDUFAF6 gene
(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 9/25 species (see all 25) About this table
ENSEMBL Gene Tree for NDUFAF6 (if available)
TreeFam Gene Tree for NDUFAF6 (if available) |
Paralogs
for NDUFAF6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for NDUFAF6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFAF6 (95907995 - 96128683 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NDUFAF6: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFAF6 |
|
Disorders
/ Diseases
for NDUFAF6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NDUFAF6 for disorders About GeneDecksing
OMIM gene information: 612392
OMIM disorders: 256000
UniProtKB/Swiss-Prot: NDUF6_HUMAN, Q330K2
Defects in NDUFAF6 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of themitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease toadult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specificencephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and someforms of Parkinson disease
9  diseases for NDUFAF6: About MalaCardsleigh syndrome due to mitochondrial complex i deficiency mitochondrial complex i deficiency leber hereditary optic neuropathy leukodystrophy
parkinson's disease myopathy neuropathy cardiomyopathy
liver disease
Export disorders for NDUFAF6 gene to outside databases
|
Publications
for NDUFAF6 gene (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 17):
(articles sorted by number of sources associating them with NDUFAF6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- A mitochondrial protein compendium elucidates complex I disease biology. (PubMed id 18614015)1, 2 Pagliarini D.J.... Mootha V.K. (2008)
- Assembly factors of human mitochondrial complex I and their defects in disease. (PubMed id 20552642)1 Mckenzie M. and Ryan M.T. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- 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)
- 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)
- DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
- Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
- 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)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
|
External Searches for NDUFAF6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NDUFAF6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NDUFAF6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NDUFAF6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NDUFAF6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NDUFAF6 gene:
Search GeneIP for patents involving NDUFAF6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NDUFAF6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NDUFAF6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFAF6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFAF6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF6 |
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 | | | NDUFAF6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF6 |
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