Human Gene NDUFAF1 (uc010bcf.3)
  Description: Homo sapiens NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 (NDUFAF1), transcript variant 2, non-coding RNA.
RefSeq Summary (NR_045620): This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr15:41,679,547-41,694,658 Size: 15,112 Total Exon Count: 6 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:41,679,547-41,694,658)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerH-INVHGNCLynx
MalacardsPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDUFAF1
CDC HuGE Published Literature: NDUFAF1

-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFAF1
Diseases sorted by gene-association score: fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency* (350), mitochondrial complex i deficiency* (251), mitochondrial metabolism disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.66 RPKM in Adrenal Gland
Total median expression: 461.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF151823 - Homo sapiens CGI-65 protein mRNA, complete cds.
BC000780 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, mRNA (cDNA clone MGC:707 IMAGE:3504355), complete cds.
KJ893811 - Synthetic construct Homo sapiens clone ccsbBroadEn_03205 NDUFAF1 gene, encodes complete protein.
KR709794 - Synthetic construct Homo sapiens clone CCSBHm_00006121 NDUFAF1 (NDUFAF1) mRNA, encodes complete protein.
AB463915 - Synthetic construct DNA, clone: pF1KB6479, Homo sapiens NDUFAF1 gene for NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, without stop codon, in Flexi system.
AK310983 - Homo sapiens cDNA, FLJ18025.
JD072749 - Sequence 53773 from Patent EP1572962.
AK309889 - Homo sapiens cDNA, FLJ99930.
JD208951 - Sequence 189975 from Patent EP1572962.
JD179345 - Sequence 160369 from Patent EP1572962.
JD481243 - Sequence 462267 from Patent EP1572962.
AK310033 - Homo sapiens cDNA, FLJ17075.
JD026362 - Sequence 7386 from Patent EP1572962.
JD028689 - Sequence 9713 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NR_045620
UCSC ID: uc010bcf.3
RefSeq Accession: NR_045620

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: NR_045620.1
exon count: 6CDS single in 3' UTR: no RNA size: 1742
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 538.00frame shift in genome: no % Coverage: 99.37
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.