Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
164781
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein assembly factor with WD repeats 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAW1
Synonyms (NCBI Gene) Gene synonyms aliases
CILD52, DNAAF18, ODA16, WDR69
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement IEA
GO:0005515 Function Protein binding IPI 18852297
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620279 26383 ENSG00000123977
Protein
UniProt ID Q8N136
Protein name Dynein assembly factor with WD repeat domains 1 (Outer row dynein assembly protein 16 homolog) (WD repeat-containing protein 69)
Protein function Required for axonemal dynein assembly and ciliary motility in ciliated organs, including Kupffer's vesicle, during embryogenesis (PubMed:36074124). Facilitates the onset of robust cilia motility during development (PubMed:36074124). {ECO:0000269
PDB 5NNZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 82 120 WD domain, G-beta repeat Repeat
PF00400 WD40 124 163 WD domain, G-beta repeat Repeat
PF00400 WD40 167 205 WD domain, G-beta repeat Repeat
PF00400 WD40 209 247 WD domain, G-beta repeat Repeat
PF00400 WD40 251 289 WD domain, G-beta repeat Repeat
PF00400 WD40 293 331 WD domain, G-beta repeat Repeat
PF00400 WD40 335 373 WD domain, G-beta repeat Repeat
PF00400 WD40 377 415 WD domain, G-beta repeat Repeat
Sequence
Sequence length 415
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ciliary dyskinesia ciliary dyskinesia, primary, 52 N/A N/A GenCC
Dementia Dementia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 33634306