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Aliases for DNAAF5 Gene

Aliases for DNAAF5 Gene

  • Dynein, Axonemal, Assembly Factor 5 2 3
  • HEATR2 3 4 6
  • HEAT Repeat-Containing Protein 2 3 4
  • HEAT Repeat Containing 2 2 3
  • CILD18 3 6
  • Dynein Assembly Factor 5, Axonemal 3

External Ids for DNAAF5 Gene

Previous Symbols for DNAAF5 Gene

  • HEATR2

Summaries for DNAAF5 Gene

Entrez Gene Summary for DNAAF5 Gene

  • The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for DNAAF5 Gene

DNAAF5 (Dynein, Axonemal, Assembly Factor 5) is a Protein Coding gene.

UniProtKB/Swiss-Prot for DNAAF5 Gene

  • Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF5 Gene

Genomics for DNAAF5 Gene

Genomic Location for DNAAF5 Gene

Start:
726,701 bp from pter
End:
786,479 bp from pter
Size:
59,779 bases
Orientation:
Plus strand

Genomic View for DNAAF5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAAF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF5 Gene

No data available for Regulatory Elements for DNAAF5 Gene

Proteins for DNAAF5 Gene

  • Protein details for DNAAF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y56-DAAF5_HUMAN
    Recommended name:
    Dynein assembly factor 5, axonemal
    Protein Accession:
    Q86Y56
    Secondary Accessions:
    • Q69YL1
    • Q96FI9
    • Q9NX75

    Protein attributes for DNAAF5 Gene

    Size:
    855 amino acids
    Molecular mass:
    93521 Da
    Quaternary structure:
    • Interacts with DNAI2; probably involved in outer arm dynein assembly.
    SequenceCaution:
    • Sequence=AAH10850.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF5 Gene

Proteomics data for DNAAF5 Gene at MOPED

Post-translational modifications for DNAAF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAAF5 Gene

No data available for DME Specific Peptides for DNAAF5 Gene

Domains for DNAAF5 Gene

Protein Domains for DNAAF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86Y56

UniProtKB/Swiss-Prot:

DAAF5_HUMAN
Family:
  • Belongs to the DNAAF5 family.:
    • Q86Y56
Similarity:
  • Contains 10 HEAT repeats.:
    • Q86Y56
genes like me logo Genes that share domains with DNAAF5: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for DNAAF5 Gene

Function for DNAAF5 Gene

Molecular function for DNAAF5 Gene

UniProtKB/Swiss-Prot Function: Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

Gene Ontology (GO) - Molecular Function for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
GO:0045505 dynein intermediate chain binding IPI 25232951
genes like me logo Genes that share ontologies with DNAAF5: view
genes like me logo Genes that share phenotypes with DNAAF5: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DNAAF5 Gene

Localization for DNAAF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF5 Gene

Cytoplasm. Cytoplasmic granule. Note=Observed only in the cytoplasm of ciliated cells and absent from cilia. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}.

Gene Ontology (GO) - Cellular Components for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23040496
GO:0031514 NOT motile cilium IDA 23040496
genes like me logo Genes that share ontologies with DNAAF5: view

No data available for Subcellular locations from COMPARTMENTS for DNAAF5 Gene

Pathways for DNAAF5 Gene

SuperPathways for DNAAF5 Gene

No Data Available

Interacting Proteins for DNAAF5 Gene

Gene Ontology (GO) - Biological Process for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 23040496
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IMP 23040496
GO:0036159 inner dynein arm assembly IMP 25232951
genes like me logo Genes that share ontologies with DNAAF5: view

No data available for Pathways by source for DNAAF5 Gene

Transcripts for DNAAF5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11: -

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DNAAF5 Gene

GeneLoc Exon Structure for
DNAAF5
ECgene alternative splicing isoforms for
DNAAF5

Expression for DNAAF5 Gene

mRNA expression in normal human tissues for DNAAF5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DNAAF5 Gene

mRNA Expression by UniProt/SwissProt for DNAAF5 Gene

Q86Y56-DAAF5_HUMAN
Tissue specificity: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level).
genes like me logo Genes that share expressions with DNAAF5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNAAF5 Gene

Orthologs for DNAAF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HEATR2 35
  • 78.56 (n)
  • 75.36 (a)
HEATR2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEATR2 35
  • 79.83 (n)
  • 78.37 (a)
HEATR2 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heatr2 35
  • 78.68 (n)
  • 77.82 (a)
Heatr2 16
Heatr2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEATR2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR2 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Heatr2 35
  • 77.86 (n)
  • 77.42 (a)
chicken
(Gallus gallus)
Aves HEATR2 35
  • 63 (n)
  • 60.08 (a)
HEATR2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEATR2 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr2 35
  • 60.35 (n)
  • 56.58 (a)
zebrafish
(Danio rerio)
Actinopterygii HEATR2 (1 of 2) 36
  • 50 (a)
OneToMany
HEATR2 (2 of 2) 36
  • 41 (a)
OneToMany
LOC100333660 35
  • 59.97 (n)
  • 55.83 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002100 35
  • 43.06 (n)
  • 31.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31320 35
  • 43.65 (n)
  • 31.29 (a)
CG31320 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2730 36
  • 40 (a)
OneToOne
Species with no ortholog for DNAAF5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DNAAF5 Gene

ENSEMBL:
Gene Tree for DNAAF5 (if available)
TreeFam:
Gene Tree for DNAAF5 (if available)

Paralogs for DNAAF5 Gene

Pseudogenes.org Pseudogenes for DNAAF5 Gene

genes like me logo Genes that share paralogs with DNAAF5: view

No data available for Paralogs for DNAAF5 Gene

Variants for DNAAF5 Gene

Sequence variations from dbSNP and Humsavar for DNAAF5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs9195 -- 786,149(-) ATCTG(A/G)TAAGT utr-variant-3-prime, nc-transcript-variant
rs9458 -- 785,857(-) CCTCT(C/T)GATGA utr-variant-3-prime, nc-transcript-variant
rs3206914 -- 786,079(+) CTTTT(G/T)GGGTT utr-variant-3-prime, nc-transcript-variant
rs3922641 -- 775,151(+) CATCA(A/G)GATTT missense, reference, nc-transcript-variant
rs4072597 -- 732,388(-) AGTCA(C/T)CCACC intron-variant

Relevant External Links for DNAAF5 Gene

HapMap Linkage Disequilibrium report
DNAAF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DNAAF5 Gene

Disorders for DNAAF5 Gene

(1) OMIM Diseases for DNAAF5 Gene (614864)

UniProtKB/Swiss-Prot

DAAF5_HUMAN
  • Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: 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. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No disorders were found for DNAAF5 Gene.

Publications for DNAAF5 Gene

  1. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PMID: 23040496) Horani A. … Ferkol T.W. (Am. J. Hum. Genet. 2012) 2 3 4
  2. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle C.P. … Mill P. (PLoS Genet. 2014) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3

Products for DNAAF5 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate DNAAF5
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for DNAAF5
    • Block miRNA regulation of DNAAF5 using miScript Target Protectors
    • antibodies-online proteins for DNAAF5
    • antibodies-online antibodies for DNAAF5
    • antibodies-online kits for DNAAF5

    Sources for DNAAF5 Gene

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