DAW1 (dynein assembly factor with WD repeats 1)

Gene

• Entrez ID: 164781
• Gene name: Dynein assembly factor with WD repeats 1
• Gene symbol: DAW1
• Synonyms (NCBI Gene): CILD52, DNAAF18, ODA16, WDR69
• Chromosome: 2
• Chromosome location: 2q36.3

Gene ontology (GO)

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
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	ISS
GO:0042073	Process	Intraciliary transport	ISS
GO:0042995	Component	Cell projection	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

Other IDs

• MIM: 620279
• HGNC: 26383
• e!Ensembl: 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:

  MKLKSLLLRYYPPGIMLEYEKHGELKTKSIDLLDLGPSTDVSALVEEIQKAEPLLTASRT
  EQVKLLIQRLQEKLGQNSNHTFYLFKVLKAHILPLTNVALNKSGSCFITGSYDRTCKLWD
  TASGEELNTLEGHRNVVYAIAFNNPYGDKIATGSFDKTCKLWSVETGKCYHTFRGHTAEI
  VCLSFNPQSTLVATGSMDTTAKLWDIQNGEEVYTLRGHSAEIISLSFNTSGDRIITGSFD
  HTVVVWDADTGRKVNILIGHCAEISSASFNWDCSLILTGSMDKTCKLWDATNGKCVATLT
  GHDDEILDSCFDYTGKLIATASADGTARIFSAATRKCIAKLEGHEGEISKISFNPQGNHL
  LTGSSDKTARIWDAQTGQCLQVLEGHTDEIFSCAFNYKGNIVITGSKDNTCRIWR

• Sequence length: 415

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ciliary dyskinesia, primary, 52	Pathogenic	rs1435687311, rs747333172, rs541693633, rs2106197058, rs1265774517	RCV003389345 RCV003389344 RCV003389343 RCV003389342 RCV003389341	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Pathogenic	rs1435687311, rs747333172, rs541693633, rs2106197058, rs1265774517	RCV002246112 RCV002246111 RCV002246110 RCV002246109 RCV002246108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIARY DYSKINESIA, PRIMARY, 52, WITH OR WITHOUT SITUS INVERSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DAW1-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL HETEROTAXY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33634306	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only