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Aliases for DNAAF1 Gene

Aliases for DNAAF1 Gene

  • Dynein (Axonemal) Assembly Factor 1 2 3
  • 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
  • Outer Row Dynein Assembly 7 Homolog 3
  • Leucine Rich Repeat Containing 50 2
  • Testicular Tissue Protein Li 110 3
  • CILD13 3
  • ODA7 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 Kartagener Syndrome. GO annotations related to this gene include dynein binding. An important paralog of this gene is DRC3.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DNAAF1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DNAAF1 Gene at MOPED

Post-translational modifications for DNAAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAAF1 Gene

No data available for DME Specific Peptides for DNAAF1 Gene

Domains & Families for DNAAF1 Gene

Protein Domains for DNAAF1 Gene

InterPro:
ProtoNet:

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 :
  • Contains 1 LRRCT domain.
  • Belongs to the DNAAF1 family.
  • Contains 6 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
Family:
  • Belongs to the DNAAF1 family.
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.
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.

Phenotypes for DNAAF1 Gene

GenomeRNAi human phenotypes for DNAAF1:
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DNAAF1 Gene COMPARTMENTS Subcellular localization image for DNAAF1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 4
cytosol 3
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
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 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000367815%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000367815 for DNAAF1 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IMP 19944400
GO:0030324 lung development IMP 19944405
GO:0035469 determination of pancreatic left/right asymmetry IMP 19944405
GO:0036158 outer dynein arm assembly IMP 19944400
GO:0044458 motile cilium assembly 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:

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 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 and MOPED for DNAAF1 Gene



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.
genes like me logo Genes that share expression patterns with DNAAF1: view

Protein tissue co-expression partners for DNAAF1 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia DNAAF1 35
  • 75.84 (n)
  • 71.14 (a)
DNAAF1 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAAF1 35
  • 76.94 (n)
  • 70.77 (a)
DNAAF1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnaaf1 35
  • 71.65 (n)
  • 68.9 (a)
Dnaaf1 16
Dnaaf1 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRC50 35
  • 98.99 (n)
  • 98.07 (a)
DNAAF1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnaaf1 35
  • 74.2 (n)
  • 72.26 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAAF1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF1 36
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAAF1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAAF1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730543 35
  • 64.29 (n)
  • 63.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16490 35
zebrafish
(Danio rerio)
Actinopterygii zgc56169 35
dnaaf1 36
  • 40 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4166 35
fruit fly
(Drosophila melanogaster)
Insecta dtr 36
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for DNAAF1:
  • 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
rs36062234 - 84,169,989(-) AGCTC(A/C/G)TCCTT reference, missense
rs17856705 - 84,170,006(+) GGAAA(A/G)GCCAA reference, missense
rs9972733 - 84,170,124(+) GGAGA(C/G)GACGG reference, missense
rs11644164 - 84,170,333(+) ACCAC(C/T)GCCCC reference, missense
rs17856706 - 84,172,365(+) GACAT(G/T)CTGCA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv907059 CNV Gain 21882294
nsv833309 CNV Loss 17160897
nsv907061 CNV Loss 21882294
nsv518331 CNV Loss 19592680
nsv523437 CNV Loss 19592680
nsv907062 CNV Loss 21882294
nsv907063 CNV Loss 21882294

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

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 67
  2. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 3
  3. 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. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  5. 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

Products for DNAAF1 Gene

Sources for DNAAF1 Gene

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