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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ciliary dyskinesia, primary, 52	Pathogenic	rs1435687311, rs747333172, rs541693633, rs2106197058, rs1265774517	RCV003389345 RCV003389344 RCV003389343 RCV003389342 RCV003389341
Primary ciliary dyskinesia	Pathogenic	rs1435687311, rs747333172, rs541693633, rs2106197058, rs1265774517	RCV002246112 RCV002246111 RCV002246110 RCV002246109 RCV002246108

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DAW1-related disorder	Likely benign; Uncertain significance	rs149371081, rs139057280	RCV003916971 RCV004758291

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	33634306