DNAAF1 Gene (Protein Coding)

Dynein Axonemal Assembly Factor 1

GC16P084145
GIFtS:
36
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 201... See more...

Aliases for DNAAF1 Gene

Aliases for DNAAF1 Gene

  • Dynein Axonemal Assembly Factor 1 2 3 5
  • Leucine-Rich Repeat-Containing Protein 50 3 4
  • Dynein Assembly Factor 1, Axonemal 3 4
  • CILD13 2 3
  • LRRC50 3 4
  • DAU1 2 3
  • ODA7 2 3
  • Swt 2 3
  • 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
  • Leucine Rich Repeat Containing 50 2
  • Testicular Tissue Protein Li 110 3
  • FLJ25330 2
  • DNAAF1 5

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 Primary Ciliary Dyskinesia. An important paralog of this gene is LRRC9.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DNAAF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAAF1 Gene

Genomics for DNAAF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNAAF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAAF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAAF1

Genomic Locations for DNAAF1 Gene

Genomic Locations for DNAAF1 Gene
chr16:84,145,266-84,178,767
(GRCh38/hg38)
Size:
33,502 bases
Orientation:
Plus strand
chr16:84,178,865-84,212,373
(GRCh37/hg19)
Size:
33,509 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 Structure • Gene Density

RefSeq DNA sequence for DNAAF1 Gene

Proteins for DNAAF1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for DNAAF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAAF1 Gene

Domains & Families for DNAAF1 Gene

Gene Families for DNAAF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAAF1 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 50 (DAAF1_HUMAN)

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

Function for DNAAF1 Gene

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  2. CRISPR
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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 From GWAS Catalog for DNAAF1 Gene

Gene Ontology (GO) - Molecular Function for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0070840 dynein complex binding IBA,IMP 18385425
genes like me logo Genes that share ontologies with DNAAF1: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF1

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
extracellular 3
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA,NAS 19944405
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with DNAAF1: view

Pathways & Interactions for DNAAF1 Gene

PathCards logo

SuperPathways for DNAAF1 Gene

No Data Available

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DNAAF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DNAAF1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF1

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

No ASD Table

Relevant External Links for DNAAF1 Gene

GeneLoc Exon Structure for
DNAAF1

Expression for DNAAF1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for DNAAF1 Gene
mRNA expression by BioGPS for DNAAF1 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for DNAAF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Heart(2.5)
  • Muscle(2.5)
  • Lung(2.3)
  • Skin(2.3)
  • Kidney(2.3)
  • Blood(2.1)

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
Regions:
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

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 30
  • 98.99 (n)
DNAAF1 31
  • 98 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNAAF1 30 31
  • 76.94 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNAAF1 30 31
  • 75.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnaaf1 30
  • 74.2 (n)
Mouse
(Mus musculus)
 Mammalia Dnaaf1 30 17 31
  • 71.65 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNAAF1 31
  • 56 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DNAAF1 31
  • 41 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNAAF1 31
  • 41 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNAAF1 31
  • 57 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101730543 30
  • 64.29 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16490 30
Zebrafish
(Danio rerio)
 Actinopterygii dnaaf1 31
  • 40 (a)
 OneToOne
zgc56169 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4166 30
Fruit Fly
(Drosophila melanogaster)
 Insecta dtr 31
  • 15 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SDS22 31
  • 16 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 32 (a)
 OneToOne
Species where no ortholog for DNAAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DNAAF1: view image

Paralogs for DNAAF1 Gene

Paralogs for DNAAF1 Gene

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

  • DAAF1_HUMAN
  • H3BNQ4_HUMAN
  • H3BP51_HUMAN
  • H3BV09_HUMAN
genes like me logo Genes that share paralogs with DNAAF1: view

Variants for DNAAF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAAF1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
636348 Uncertain Significance: not provided 84,170,015(+) G/T MISSENSE_VARIANT
639150 Uncertain Significance: Primary ciliary dyskinesia 84,169,868(+) C/G MISSENSE_VARIANT
639326 Uncertain Significance: Primary ciliary dyskinesia 84,165,849(+) G/C MISSENSE_VARIANT
639673 Uncertain Significance: Primary ciliary dyskinesia 84,172,381(+) T/C INTRON_VARIANT
640693 Uncertain Significance: Primary ciliary dyskinesia 84,170,087(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAAF1 Gene

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)

Additional Variant Information 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

(12) MalaCards diseases for DNAAF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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.

Additional Disease Information for DNAAF1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (American journal of human genetics 2009) 2 3 4
  2. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. (PMID: 19944400) Loges NT … Omran H (American journal of human genetics 2009) 3 4
  3. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. (PMID: 18385425) van Rooijen E … van Eeden FJ (Journal of the American Society of Nephrology : JASN 2008) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for DNAAF1 gene in Mastermind

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