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Aliases for DNAAF1 Gene

Aliases for DNAAF1 Gene

  • Dynein, Axonemal, Assembly Factor 1 2 3
  • LRRC50 3 4 6
  • Leucine-Rich Repeat-Containing Protein 50 3 4
  • Leucine Rich Repeat Containing 50 2 3
  • CILD13 3 6
  • ODA7 3 6
  • Outer Row Dynein Assembly 7 Homolog (Chlamydomonas) 2
  • Outer Row Dynein Assembly 7 Homolog 3
  • Dynein Assembly Factor 1, Axonemal 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.[provided by RefSeq, May 2010]

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 primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia. GO annotations related to this gene include dynein binding. An important paralog of this gene is CNTRL.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DNAAF1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF1 Gene

No data available for Regulatory Elements 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 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 :
  • Q8NEP3
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.

Gene Ontology (GO) - Molecular Function for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0045502 dynein binding IMP 18385425
genes like me logo Genes that share ontologies with DNAAF1: view

Phenotypes for DNAAF1 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAAF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm NAS 19944405
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with DNAAF1: view

No data available for Subcellular locations from COMPARTMENTS for DNAAF1 Gene

Pathways 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: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 for DNAAF1 Gene

Transcripts for DNAAF1 Gene

Unigene Clusters for DNAAF1 Gene

Dynein, axonemal, assembly factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAAF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DNAAF1

Flow Cytometry 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 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 (15.1), Fallopian Tube (5.4), and Brain - Hypothalamus (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with DNAAF1: view

In Situ Assay 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 DNAAF1 36
  • 98 (a)
OneToOne
LRRC50 35
  • 98.99 (n)
  • 98.07 (a)
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
oppossum
(Monodelphis domestica)
Mammalia DNAAF1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF1 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnaaf1 35
  • 74.2 (n)
  • 72.26 (a)
chicken
(Gallus gallus)
Aves DNAAF1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAAF1 36
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16490 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730543 35
  • 64.29 (n)
  • 63.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4166 35
zebrafish
(Danio rerio)
Actinopterygii dnaaf1 36
  • 40 (a)
OneToOne
zgc56169 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

Selected 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 MAF
rs889655 -- 84,177,330(-) TGACT(A/G)CATTC intron-variant
rs1035558 -- 84,172,779(-) AGATA(C/T)AATGT intron-variant
rs2042410 -- 84,157,010(-) CTGGA(C/T)GTGGT intron-variant, upstream-variant-2KB
rs2288018 -- 84,175,579(+) GGGGG(C/G)CTGCT intron-variant
rs2288019 Benign 84,176,028(+) AACCT(C/G)CCCAC reference, synonymous-codon

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

Relevant External Links for DNAAF1 Gene

HapMap Linkage Disequilibrium report
DNAAF1
Human Gene Mutation Database (HGMD)
DNAAF1

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

Disorders for DNAAF1 Gene

(1) OMIM Diseases for DNAAF1 Gene (613190)

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. 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
  5. 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

Products for DNAAF1 Gene

  • antibodies-online proteins for DNAAF1
  • antibodies-online antibodies for DNAAF1
  • antibodies-online kits for DNAAF1

Sources for DNAAF1 Gene

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