Human Gene DNAAF1 (uc010vnw.2) Description and Page Index
  Description: Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.
RefSeq Summary (NM_178452): The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr16:84,192,645-84,211,524 Size: 18,880 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr16:84,193,295-84,211,447 Size: 18,153 Coding Exon Count: 7 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:84,192,645-84,211,524)mRNA (may differ from genome)Protein (489 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAAF1
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 13* (1229), primary ciliary dyskinesia* (141), kartagener syndrome* (132), primary ciliary dyskinesia 13: dnaaf1-related primary ciliary dyskinesia* (100), ciliary dyskinesia, primary, 1, with or without situs inversus* (73), situs inversus (7), visceral heterotaxy (4)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.64 RPKM in Testis
Total median expression: 84.37 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.40187-0.350 Picture PostScript Text
3' UTR -9.5077-0.123 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q8NEP3-2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Descriptions from all associated GenBank mRNAs
  HM005423 - Homo sapiens clone HTL-T-110 testicular tissue protein Li 110 mRNA, complete cds.
BX648657 - Homo sapiens mRNA; cDNA DKFZp686O0128 (from clone DKFZp686O0128).
AL833327 - Homo sapiens mRNA; cDNA DKFZp686E1033 (from clone DKFZp686E1033).
AL833336 - Homo sapiens mRNA; cDNA DKFZp686C1634 (from clone DKFZp686C1634).
AL833328 - Homo sapiens mRNA; cDNA DKFZp686E1933 (from clone DKFZp686E1933).
AK310961 - Homo sapiens cDNA, FLJ18003.
AK057238 - Homo sapiens cDNA FLJ32676 fis, clone TESTI1000168, weakly similar to PROTEIN PHOSPHATASES PP1 REGULATORY SUBUNIT SDS22.
BC024009 - Homo sapiens leucine rich repeat containing 50, mRNA (cDNA clone MGC:26709 IMAGE:4822973), complete cds.
AK058059 - Homo sapiens cDNA FLJ25330 fis, clone TST00576.
AK295990 - Homo sapiens cDNA FLJ55075 complete cds, highly similar to Leucine-rich repeat-containing protein 50.
AL137334 - Homo sapiens mRNA; cDNA DKFZp434A119 (from clone DKFZp434A119).

-  Other Names for This Gene
  Alternate Gene Symbols: AK295990, LRRC50, NM_178452, NP_848547, Q8NEP3-2
UCSC ID: uc010vnw.2
RefSeq Accession: NM_178452
Protein: Q8NEP3-2, splice isoform of Q8NEP3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAAF1:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AK295990.1
exon count: 8CDS single in 3' UTR: no RNA size: 1733
ORF size: 1470CDS single in intron: no Alignment % ID: 99.54
txCdsPredict score: 3006.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 109# 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.