Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DNAAF1 Gene

protein-coding   GIFtS: 43
GCID: GC16P084179

Dynein, Axonemal, Assembly Factor 1

(Previous name: leucine rich repeat containing 50)
(Previous symbol: LRRC50)
  See DNAAF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Dynein, Axonemal, Assembly Factor 11 2     ODA72 5
LRRC501 2 3 5     Outer Row Dynein Assembly 7 Homolog (Chlamydomonas)1
Leucine Rich Repeat Containing 501 2     Dynein Assembly Factor 1, Axonemal2
Leucine-Rich Repeat-Containing Protein 502 3     Outer Row Dynein Assembly 7 Homolog2
CILD132 5     

External Ids:    HGNC: 305391   Entrez Gene: 1238722   Ensembl: ENSG000001540997   OMIM: 6131905   UniProtKB: Q8NEP33   

Export aliases for DNAAF1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 LRRC48.

UniProtKB/Swiss-Prot: DAAF1_HUMAN, Q8NEP3
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 Wiki entry for DNAAF1 (LRRC50) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DNAAF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAAF1 promoter sequence
   Search Chromatin IP Primers for DNAAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24.1

DNAAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAAF1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P084179:  view genomic region     (about GC identifiers)

Start:
84,178,865 bp from pter      End:
84,212,373 bp from pter
Size:
33,509 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DAAF1_HUMAN, Q8NEP3 (See protein sequence)
Recommended Name: Dynein assembly factor 1, axonemal  
Size: 725 amino acids; 80026 Da
Sequence caution: Sequence=BAB71645.1; Type=Erroneous initiation;
Secondary accessions: B4DJA3 Q69YI8 Q69YJ0 Q69YW5 Q96LP3 Q96MB6
Alternative splicing: 3 isoforms:  Q8NEP3-1   Q8NEP3-2   Q8NEP3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAAF1: NX_Q8NEP3

Explore proteomics data for DNAAF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DNAAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848547.4  
    ENSEMBL proteins: 
     ENSP00000455154   ENSP00000457373   ENSP00000367815   ENSP00000454960   ENSP00000457899  
     ENSP00000334593  

    DNAAF1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DNAAF1
    OriGene Protein Over-expression Lysate for DNAAF1
    OriGene MassSpec for DNAAF1
    OriGene Custom Protein Services for DNAAF1
    GenScript Custom Purified and Recombinant Proteins Services for DNAAF1
    Novus Biologicals DNAAF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DNAAF1 

     
    antibodies-online proteins for DNAAF1 (2 products) 

     
    Search antibodies-online for peptides for DNAAF1

    DNAAF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for DNAAF1
    OriGene Custom Antibody Services for DNAAF1
    Novus Biologicals DNAAF1 Antibodies
    Abcam antibodies for DNAAF1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for DNAAF1
    antibodies-online antibodies for DNAAF1 (19 products) 

    DNAAF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DNAAF1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNAAF1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for DNAAF1 
    antibodies-online kits for DNAAF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR027734 DNAAF1
     IPR001611 Leu-rich_rpt

    Graphical View of Domain Structure for InterPro Entry Q8NEP3

    ProtoNet protein and cluster: Q8NEP3

    UniProtKB/Swiss-Prot: DAAF1_HUMAN, Q8NEP3
    Similarity: Belongs to the DNAAF1 family
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain


    Find genes that share domains with DNAAF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DAAF1_HUMAN, Q8NEP3
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0045502dynein binding IMP18385425
         
    Find genes that share ontologies with DNAAF1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for DNAAF1:
     Decreased nuclei size in G2M  Decreased viability with pacli 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DNAAF1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DNAAF1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DNAAF1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DNAAF1
    Predesigned siRNA for gene silencing in human, mouse, rat DNAAF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DNAAF1

    Clone
    Products:
         
    OriGene clones in human, mouse for DNAAF1 (see all 7)
    OriGene ORF clones in mouse, rat for DNAAF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for DNAAF1
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAAF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DNAAF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for DNAAF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DAAF1_HUMAN, Q8NEP3: 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): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm NAS19944405
    GO:0005886plasma membrane IDA--
    GO:0005930axoneme IDA18385425

    Find genes that share ontologies with DNAAF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAAF1
    Interactions:

        Search GeneGlobe Interaction Network for DNAAF1

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001947heart looping IMP19944400
    GO:0003341cilium movement IMP19944405
    GO:0003356regulation of cilium beat frequency IMP19944400
    GO:0030324lung development IMP19944405
    GO:0035469determination of pancreatic left/right asymmetry IMP19944405

    Find genes that share ontologies with DNAAF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNAAF1 (DAAF1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DNAAF1 gene: 
    NM_178452.4  

    Unigene Cluster for DNAAF1:

    Dynein, axonemal, assembly factor 1
    Hs.310164  [show with all ESTs]
    Unigene Representative Sequence: AL833336
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570298(uc002fhl.4) ENST00000567918 ENST00000563093 ENST00000378553
    ENST00000563818(uc010vnw.2) ENST00000567666 ENST00000562024 ENST00000569735
    ENST00000564928 ENST00000334315(uc010chi.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DNAAF1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DNAAF1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DNAAF1
    Predesigned siRNA for gene silencing in human, mouse, rat DNAAF1
    Clone
    Products:
         
    OriGene clones in human, mouse for DNAAF1 (see all 7)
    OriGene ORF clones in mouse, rat for DNAAF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for DNAAF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAAF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DNAAF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAAF1
      QuantiTect SYBR Green Assays in human, mouse, rat DNAAF1
      QuantiFast Probe-based Assays in human, mouse, rat DNAAF1

    Additional mRNA sequence: 

    AK058059.1 AK295990.1 AK310961.1 AL137334.1 AL833327.1 AL833328.1 AL833336.1 BC024009.2 

    13 DOTS entries:

    DT.75157385  DT.75136465  DT.100749579  DT.95373081  DT.91756322  DT.91756320  DT.95193873  DT.455769 
    DT.120706077  DT.100646886  DT.91741354  DT.100817177  DT.95179571 

    Selected AceView cDNA sequences (see all 86):

    AL833328 AI654430 BX648657 BF741040 BX281989 AA927069 N47170 CF529877 
    AL137334 AL833336 AK057238 AI912322 BX102731 AW515367 BI827859 BX493544 
    BQ013137 CF528917 CD244524 BC024009 AW182465 AI024624 AI189418 CB321648 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    DNAAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAAACATTT
    DNAAF1 Expression
    About this image


    DNAAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Atrioventricular Node
    DNAAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.310164

    UniProtKB/Swiss-Prot: DAAF1_HUMAN, Q8NEP3
    Tissue specificity: Mainly expressed in trachea and testis

        Custom PCR Arrays for DNAAF1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DNAAF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAAF1
    QuantiTect SYBR Green Assays in human, mouse, rat DNAAF1
    QuantiFast Probe-based Assays in human, mouse, rat DNAAF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

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

    Orthologs for DNAAF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnaaf11 , 5 leucine rich repeat containing 505
    dynein, axonemal assembly factor 11
    71.65(n)1
    68.9(a)1
      8 (67.98 cM)5
    682701  NM_026648.41  NP_080924.11 
     1195752355 
    chicken
    (Gallus gallus)
    Aves DNAAF16
    dynein, axonemal, assembly factor 1
    41(a)
    1 ↔ 1
    11(2470647-2483811)
    lizard
    (Anolis carolinensis)
    Reptilia DNAAF16
    dynein, axonemal, assembly factor 1
    57(a)
    1 ↔ 1
    5(108426984-108438036)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164902 Xenopus laevis transcribed sequence with weak similarity more 73.12(n)    48050002 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561692 zgc56169 72.22(n)   386722  BC045963.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dtr6
    defective transmitter release
    15(a)
    1 ↔ 1
    2L(21361216-21367288)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SDS226
    Conserved nuclear regulatory subunit of Glc7p type...
    16(a)
    1 → many
    XI(78866-79882) YKL193C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for DNAAF1 gene
    LRRC482  PPP1R72  LRRC92  CNTRL2  LRRC492  
    6 SIMAP similar genes for DNAAF1 using alignment to 4 protein entries:     DAAF1_HUMAN (see all proteins):
    OK/SW-cl.41    PACSIN2    AMN1    ZNF195    LRRC6    PLA2G15

    Find genes that share paralogs with DNAAF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DNAAF1 (see all 1238)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630984
    Ciliary dyskinesia, primary, 13 (CILD13)4--see VAR_0630982 L R mis40--------
    rs113356911,2
    C--84183296(+) ATCTC-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs1118205931,2
    F--84186170(+) GAATCG/TCTTGA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1138301131,2
    F--84188618(+) ATGCCG/ATTCTC 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs1118903601,2
    C,F--84194355(+) TAACAC/TGGTGA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs559266451,2
    C--84194731(+) CTCCC-/CTGGGC 1 -- int12Minor allele frequency- C:0.00NA CSA 4
    rs2010005111,2
    --84196990(+) TTTCT-/TTCTTTTT 1 -- cds10--------
    rs2021895561,2
    --84196991(+) TTCTT-/TCTTTTT 1 -- int10--------
    rs2006397581,2
    --84196992(+) TCTTT-/CTTTTT 1 -- int10--------
    rs1399662251,2
    C--84197465(+) TTTTT-/GGG/
            
    GTGGG
    2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for DNAAF1 (84178865 - 84212373 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DNAAF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518331CNV Loss19592680
    nsv907063CNV Loss21882294
    nsv907062CNV Loss21882294
    nsv523437CNV Loss19592680
    nsv833309CNV Loss17160897
    nsv907061CNV Loss21882294
    nsv907059CNV Gain21882294

    Human Gene Mutation Database (HGMD): DNAAF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAAF1
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 613190   
    OMIM disorders: 613193  
    UniProtKB/Swiss-Prot: DAAF1_HUMAN, Q8NEP3
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for DNAAF1:    
    About MalaCards
    ciliary dyskinesia, primary, 13    primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia    leukostasis    ciliary dyskinesia, primary, 19


    Find genes that share disorders with DNAAF1           About GenesLikeMe


    Export disorders for DNAAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for DNAAF1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with DNAAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. (PubMed id 19944405)1, 2, 3 Duquesnoy P.... Amselem S. (Am. J. Hum. Genet. 2009)
    2. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. (PubMed id 19944400)1, 2 Loges N.T.... Omran H. (Am. J. Hum. Genet. 2009)
    3. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. (PubMed id 18385425)1, 2 van Rooijen E.... van Eeden F.J. (J. Am. Soc. Nephrol. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PubMed id 23872636)1 Tarkar A.... Omran H. (Nat. Genet. 2013)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 123872 HGNC: 30539 AceView: LOC123872 Ensembl:ENSG00000154099 euGenes: HUgn123872
    ECgene: DNAAF1 H-InvDB: DNAAF1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DNAAF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DNAAF1 gene:
    Search GeneIP for patents involving DNAAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for DNAAF1   OriGene RNAi products in human, mouse, rat for DNAAF1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for DNAAF1  
     OriGene MassSpec for DNAAF1   OriGene clones in human, mouse for DNAAF1  
     OriGene qSTAR qPCR primer pairs in human, mouse for DNAAF1   OriGene Purified Protein for DNAAF1  
     OriGene ORF clones in mouse, rat for DNAAF1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DNAAF1   OriGene Custom Protein Services for DNAAF1  

     
     
     Block miRNA regulation of human, mouse, rat DNAAF1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DNAAF1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAAF1 Predesigned siRNA for gene silencing in human, mouse, rat DNAAF1
     QuantiFast Probe-based Assays in human, mouse, rat DNAAF1 QuantiTect SYBR Green Assays in human, mouse, rat DNAAF1
     Custom PCR Arrays for DNAAF1 Search Chromatin IP Primers for DNAAF1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAAF1  Search GeneGlobe Interaction Network for DNAAF1
     Search Regulatory tfbs for DNAAF1
     GenScript Custom Purified and Recombinant Proteins Services for DNAAF1 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for DNAAF1
     GenScript Custom Assay Services for DNAAF1 GenScript Custom overexpressing Cell Line Services for DNAAF1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DNAAF1 (DAAF1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DNAAF1 antibodies
     DNAAF1 lysates
     Antibodies for DNAAF1
     See all of Abcam's Antibodies, Kits and Proteins for DNAAF1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for DNAAF1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DNAAF1
     SwitchGear Promoter luciferase reporter plasmids for DNAAF1
     Search ThermoFisher Antibodies for DNAAF1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF1
     Browse compounds at ApexBio
     Search Addgene for plasmids for DNAAF1
      Search eBioscience for proteins for DNAAF1
      Search eBioscience for elisas for DNAAF1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for DNAAF1
     antibodies-online antibodies for DNAAF1 (19 products)
     antibodies-online kits for DNAAF1
      Search antibodies-online for peptides for DNAAF1
     antibodies-online proteins for DNAAF1 (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DNAAF1 gene at Home site.
    Version: 3.12.248 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4