Human Gene DNAAF1 (ENST00000378553.10) Description and Page Index
  Description: Homo sapiens dynein axonemal assembly factor 1 (DNAAF1), transcript variant 1, mRNA. (from RefSeq NM_178452)
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].
Gencode Transcript: ENST00000378553.10
Gencode Gene: ENSG00000154099.18
Transcript (Including UTRs)
   Position: hg38 chr16:84,145,308-84,177,918 Size: 32,611 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr16:84,145,441-84,177,841 Size: 32,401 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:84,145,308-84,177,918)mRNA (may differ from genome)Protein (725 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Dynein assembly factor 1, axonemal; AltName: Full=Leucine-rich repeat-containing protein 50;
FUNCTION: Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.
SUBCELLULAR LOCATION: Cell projection, cilium. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Note=In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.
TISSUE SPECIFICITY: Mainly expressed in trachea and testis.
DISEASE: Defects in DNAAF1 are the cause of primary ciliary dyskinesia type 13 (CILD13) [MIM:613193]. A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the cilia.
SIMILARITY: Belongs to the DNAAF1 family.
SIMILARITY: Contains 6 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.
SEQUENCE CAUTION: Sequence=BAB71645.1; Type=Erroneous initiation;

-  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

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.30133-0.393 Picture PostScript Text
3' UTR -8.8077-0.114 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
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt

ModBase Predicted Comparative 3D Structure on Q8NEP3
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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0070840 dynein complex binding

Biological Process:
GO:0001947 heart looping
GO:0003341 cilium movement
GO:0003356 regulation of cilium beat frequency
GO:0030324 lung development
GO:0035469 determination of pancreatic left/right asymmetry
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0044458 motile cilium assembly
GO:0060271 cilium assembly
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:0060972 left/right pattern formation
GO:0070286 axonemal dynein complex assembly
GO:0071907 determination of digestive tract left/right asymmetry
GO:0071910 determination of liver left/right asymmetry

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0016607 nuclear speck
GO:0042995 cell projection

-  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.
LF212246 - JP 2014500723-A/19749: Polycomb-Associated Non-Coding RNAs.
MA447823 - JP 2018138019-A/19749: Polycomb-Associated Non-Coding RNAs.
JD076785 - Sequence 57809 from Patent EP1572962.
JD462799 - Sequence 443823 from Patent EP1572962.
JD062553 - Sequence 43577 from Patent EP1572962.
JD460594 - Sequence 441618 from Patent EP1572962.
JD452752 - Sequence 433776 from Patent EP1572962.
JD447990 - Sequence 429014 from Patent EP1572962.
JD098249 - Sequence 79273 from Patent EP1572962.
JD533971 - Sequence 514995 from Patent EP1572962.
JD224151 - Sequence 205175 from Patent EP1572962.
JD158140 - Sequence 139164 from Patent EP1572962.
AK058059 - Homo sapiens cDNA FLJ25330 fis, clone TST00576.
JD397457 - Sequence 378481 from Patent EP1572962.
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: B4DJA3, DAAF1_HUMAN, LRRC50, NM_178452, Q69YI8, Q69YJ0, Q69YW5, Q8NEP3, Q96LP3, Q96MB6, uc002fhl.1, uc002fhl.2, uc002fhl.3, uc002fhl.4, uc002fhl.5, uc002fhl.6
UCSC ID: uc002fhl.6
RefSeq Accession: NM_178452
Protein: Q8NEP3 (aka DAAF1_HUMAN)
CCDS: CCDS10943.2

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

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