Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNAAF1 Gene

Aliases for DNAAF1 Gene

  • Dynein Axonemal Assembly Factor 1 2 3 5
  • Leucine-Rich Repeat-Containing Protein 50 3 4
  • LRRC50 3 4
  • Outer Row Dynein Assembly 7 Homolog (Chlamydomonas) 2
  • Dynein, Axonemal, Assembly Factor 1 2
  • Dynein (Axonemal) Assembly Factor 1 2
  • Outer Row Dynein Assembly 7 Homolog 3
  • Dynein Assembly Factor 1, Axonemal 3
  • Leucine Rich Repeat Containing 50 2
  • Testicular Tissue Protein Li 110 3
  • CILD13 3
  • ODA7 3
  • Swt 3

External Ids for DNAAF1 Gene

Previous HGNC Symbols for DNAAF1 Gene

  • LRRC50

Previous GeneCards Identifiers for DNAAF1 Gene

  • GC16P084179

Summaries for DNAAF1 Gene

Entrez Gene Summary for DNAAF1 Gene

  • 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]

GeneCards Summary for DNAAF1 Gene

DNAAF1 (Dynein Axonemal Assembly Factor 1) is a Protein Coding gene. Diseases associated with DNAAF1 include Ciliary Dyskinesia, Primary, 13 and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. GO annotations related to this gene include dynein binding. An important paralog of this gene is LRRC9.

UniProtKB/Swiss-Prot for DNAAF1 Gene

  • 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.

Gene Wiki entry for DNAAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF1 Gene

Genomics for DNAAF1 Gene

Regulatory Elements for DNAAF1 Gene

Enhancers for DNAAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G084175 1.6 FANTOM5 Ensembl ENCODE 18.3 +31.9 31859 4.1 PKNOX1 ATF1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ZNF121 SLC30A9 TAF1C DNAAF1 OSGIN1 COTL1 HSDL1 PIR55963 GC16P084175
GH16G084281 1.1 FANTOM5 ENCODE 25.1 +136.0 136002 0.2 PKNOX1 DDX20 KLF17 ZNF76 ZNF366 NFYB FOS NFYA CEBPB SP2 ADAD2 DNAAF1 LOC105376777 RNA5SP433 GC16M084262
GH16G083995 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -149.3 -149325 0.7 MXI1 RFX1 NFYC ZNF394 BMI1 EP300 MYNN ZXDB EGR2 NECAB2 DNAAF1 RNA5SP432 SLC38A8 HSDL1 ADAD2 PIR54401 GC16M084039
GH16G084115 1.4 ENCODE dbSUPER 11.9 -28.6 -28590 2.8 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A MBTPS1 HSDL1 DNAAF1 CRISPLD2 ENSG00000260859 TAF1C ENSG00000274677
GH16G084082 1.4 Ensembl ENCODE 11.4 -62.3 -62341 1.4 HNRNPUL1 HDGF FOXA2 PKNOX1 CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A TAF1C ENSG00000261243 KLHL36 SLC38A8 RNA5SP432 DNAAF1 HSDL1 ADAD2 CRISPLD2 ENSG00000260859
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAAF1 on UCSC Golden Path with GeneCards custom track

Promoters for DNAAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088758 -460 2000 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 FEZF1 ZNF2 SLC30A9 ZNF143 ZNF207

Genomic Location for DNAAF1 Gene

Chromosome:
16
Start:
84,145,260 bp from pter
End:
84,178,767 bp from pter
Size:
33,508 bases
Orientation:
Plus strand

Genomic View for DNAAF1 Gene

Genes around DNAAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF1 Gene

Proteins for DNAAF1 Gene

  • Protein details for DNAAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEP3-DAAF1_HUMAN
    Recommended name:
    Dynein assembly factor 1, axonemal
    Protein Accession:
    Q8NEP3
    Secondary Accessions:
    • B4DJA3
    • Q69YI8
    • Q69YJ0
    • Q69YW5
    • Q96LP3
    • Q96MB6

    Protein attributes for DNAAF1 Gene

    Size:
    725 amino acids
    Molecular mass:
    80026 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71645.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF1 Gene

Post-translational modifications for DNAAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAAF1 Gene

Domains & Families for DNAAF1 Gene

Protein Domains for DNAAF1 Gene

Suggested Antigen Peptide Sequences for DNAAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEP3

UniProtKB/Swiss-Prot:

DAAF1_HUMAN :
  • Belongs to the DNAAF1 family.
Family:
  • Belongs to the DNAAF1 family.
genes like me logo Genes that share domains with DNAAF1: view

No data available for Gene Families for DNAAF1 Gene

Function for DNAAF1 Gene

Molecular function for DNAAF1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070840 dynein complex binding IMP 18385425
genes like me logo Genes that share ontologies with DNAAF1: view

Phenotypes for DNAAF1 Gene

genes like me logo Genes that share phenotypes with DNAAF1: view

Human Phenotype Ontology for DNAAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAAF1 Gene

Localization for DNAAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAAF1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm NAS 19944405
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with DNAAF1: view

Pathways & Interactions for DNAAF1 Gene

SuperPathways for DNAAF1 Gene

No Data Available

Interacting Proteins for DNAAF1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000367815%0d%0a9606.ENSP00000303570%0d%0a9606.ENSP00000330836%0d%0a9606.ENSP00000385636%0d%0a9606.ENSP00000349658%0d%0a
Selected Interacting proteins: Q8NEP3-DAAF1_HUMAN ENSP00000367815 for DNAAF1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IMP 19944400
GO:0003341 cilium movement IMP 19944405
GO:0003356 regulation of cilium beat frequency IMP 19944400
GO:0030324 lung development IMP 19944405
GO:0035469 determination of pancreatic left/right asymmetry IMP 19944405
genes like me logo Genes that share ontologies with DNAAF1: view

No data available for Pathways by source and SIGNOR curated interactions for DNAAF1 Gene

Drugs & Compounds for DNAAF1 Gene

No Compound Related Data Available

Transcripts for DNAAF1 Gene

Unigene Clusters for DNAAF1 Gene

Dynein, axonemal, assembly factor 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF1 Gene

No ASD Table

Relevant External Links for DNAAF1 Gene

GeneLoc Exon Structure for
DNAAF1
ECgene alternative splicing isoforms for
DNAAF1

Expression for DNAAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAAF1 Gene

This gene is overexpressed in Testis (x15.1), Fallopian Tube (x5.4), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for DNAAF1 Gene

This gene is overexpressed in Heart (48.4) and Testis (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAAF1 Gene



Protein tissue co-expression partners for DNAAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAAF1 Gene:

DNAAF1

SOURCE GeneReport for Unigene cluster for DNAAF1 Gene:

Hs.310164

mRNA Expression by UniProt/SwissProt for DNAAF1 Gene:

Q8NEP3-DAAF1_HUMAN
Tissue specificity: Mainly expressed in trachea and testis.

Evidence on tissue expression from TISSUES for DNAAF1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAAF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DNAAF1: view

Primer Products

Orthologs for DNAAF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC50 34
  • 98.99 (n)
DNAAF1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAAF1 34 35
  • 76.94 (n)
cow
(Bos Taurus)
Mammalia DNAAF1 34 35
  • 75.84 (n)
rat
(Rattus norvegicus)
Mammalia Dnaaf1 34
  • 74.2 (n)
mouse
(Mus musculus)
Mammalia Dnaaf1 34 16 35
  • 71.65 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAAF1 35
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF1 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAAF1 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAAF1 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730543 34
  • 64.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16490 34
zebrafish
(Danio rerio)
Actinopterygii dnaaf1 35
  • 40 (a)
OneToOne
zgc56169 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4166 34
fruit fly
(Drosophila melanogaster)
Insecta dtr 35
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToOne
Species where no ortholog for DNAAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAAF1 Gene

ENSEMBL:
Gene Tree for DNAAF1 (if available)
TreeFam:
Gene Tree for DNAAF1 (if available)

Paralogs for DNAAF1 Gene

Paralogs for DNAAF1 Gene

(6) SIMAP similar genes for DNAAF1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DNAAF1: view

Variants for DNAAF1 Gene

Sequence variations from dbSNP and Humsavar for DNAAF1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs267607227 Pathogenic, Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193] 84,154,748(+) GAAAC(G/T)GGATG nc-transcript-variant, reference, missense
rs267607225 Pathogenic 84,159,744(+) CTGTA(C/T)GACTA nc-transcript-variant, reference, stop-gained
rs267607226 Pathogenic 84,159,725(+) AATTA(A/C)AGAAG nc-transcript-variant, reference, stop-gained
rs397515339 Pathogenic 84,170,177(+) CCCCC(-/C)GCCAC nc-transcript-variant, reference, frameshift-variant
rs786205052 Pathogenic 84,154,732(+) CCTGG(-/G)AACCT nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAAF1 Gene

Variant ID Type Subtype PubMed ID
esv2761930 CNV gain 21179565
esv3639412 CNV loss 21293372
esv3639413 CNV loss 21293372
esv3639414 CNV loss 21293372
nsv1059227 CNV loss 25217958
nsv1065790 CNV loss 25217958
nsv483044 CNV gain 15286789
nsv518331 CNV loss 19592680
nsv523437 CNV loss 19592680
nsv833309 CNV loss 17160897

Variation tolerance for DNAAF1 Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.87; 89.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAAF1 Gene

Human Gene Mutation Database (HGMD)
DNAAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF1 Gene

Disorders for DNAAF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNAAF1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DAAF1_HUMAN
  • Ciliary dyskinesia, primary, 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 patients cilia. {ECO:0000269 PubMed:19944400, ECO:0000269 PubMed:19944405, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAAF1
genes like me logo Genes that share disorders with DNAAF1: view

No data available for Genatlas for DNAAF1 Gene

Publications for DNAAF1 Gene

  1. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. (PMID: 19944405) Duquesnoy P. … Amselem S. (Am. J. Hum. Genet. 2009) 2 3 4 64
  2. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. (PMID: 19944400) Loges N.T. … Omran H. (Am. J. Hum. Genet. 2009) 3 4 64
  3. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. (PMID: 18385425) van Rooijen E. … van Eeden F.J. (J. Am. Soc. Nephrol. 2008) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DNAAF1 Gene

Sources for DNAAF1 Gene

Content
Loading form....