DNAAF1 (dynein axonemal assembly factor 1)

Gene

• Entrez ID: 123872
• Gene name: Dynein axonemal assembly factor 1
• Gene symbol: DNAAF1
• Synonyms (NCBI Gene): CILD13, DAU1, LRRC50, ODA7, swt
• Chromosome: 16
• Chromosome location: 16q24.1
• Summary: 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 w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139519641	G>A	Likely-pathogenic, uncertain-significance, benign	Non coding transcript variant, coding sequence variant, splice donor variant, missense variant
rs139566676	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs144018942	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs267607225	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs267607226	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs267607227	T>C,G	Pathogenic	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs397515339	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs745495583	GGAGATGGAGAGCCAGAGGGGAC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs748869874	C>G,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs758650222	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs761851970	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs762843285	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs764066045	A>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs786205052	->G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060502829	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1233603821	AGGGAGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1489377964	A>T	Pathogenic	Downstream transcript variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1555519999	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1555526915	->A	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1555527001	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0001947	Process	Heart looping	IMP	19944400, 19944405
GO:0003341	Process	Cilium movement	IMP	19944405
GO:0003356	Process	Regulation of cilium beat frequency	IMP	19944400
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	19944405
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	18385425
GO:0030324	Process	Lung development	IMP	19944405
GO:0035082	Process	Axoneme assembly	IBA
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	19944405
GO:0036158	Process	Outer dynein arm assembly	IMP	19944400
GO:0036159	Process	Inner dynein arm assembly	IMP	19944400
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	19944405
GO:0060271	Process	Cilium assembly	IMP	18385425
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IC	19944405
GO:0060972	Process	Left/right pattern formation	IMP	19944400
GO:0070286	Process	Axonemal dynein complex assembly	IMP	19944400, 19944405
GO:0070840	Function	Dynein complex binding	IBA
GO:0070840	Function	Dynein complex binding	IMP	18385425
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	19944405
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	19944405

Other IDs

• MIM: 613190
• HGNC: 30539
• e!Ensembl: ENSG00000154099

Protein

• UniProt ID: Q8NEP3
• Protein name: Dynein axonemal assembly factor 1 (Leucine-rich repeat-containing protein 50)
• Protein 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. {ECO:0000269|PubMe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14580	LRR_9	172 → 306		Repeat

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in trachea and testis. {ECO:0000269|PubMed:19944405}.
• Sequence:

  MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHS
  QQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFD
  RIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIENLEPLQKLDALNL
  SNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
  LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYA
  AEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAE
  GKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAET
  LLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
  VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLE
  TKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPT
  DTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLL
  MPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFP
  APKAS

• Sequence length: 725

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
DNAAF1-related disorder	Pathogenic; Likely pathogenic	rs201034372, rs2507432053, rs1304533019, rs745495583	RCV003418250 RCV003400058 RCV003903958 RCV003935743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Pathogenic	rs397515339, rs267607227	RCV000190867 RCV000190914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs372303284, rs1396269749, rs2087613070, rs201034372, rs397515339, rs267607225, rs267607226, rs786205052, rs767808030, rs375641621, rs2507492334, rs201630226, rs2086855300, rs752285725, rs2507345386, rs2507307401, rs2507432053, rs2507335922, rs2507367277, rs1295920871, rs2507367572, rs751994125, rs2087395615, rs1236797387, rs1060502829, rs758650222, rs1555526915, rs1555519999, rs762843285, rs1233603821, rs745495583, rs1555527001, rs761851970, rs748869874, rs1489377964, rs1567555007, rs2088261600	RCV001381191 RCV001849596 RCV001849597 RCV002037936 RCV003534298 RCV000556400 RCV001063639 RCV000532330 RCV002454754 RCV003041264 RCV003077315 RCV003087818 RCV003080137 RCV002583654 RCV002866526 RCV002918489 RCV003778260 RCV003535042 RCV003648037 RCV003653969 RCV003652967 RCV003832252 RCV003841946 RCV003860811 RCV000468722 RCV000550801 RCV000543582 RCV000539837 RCV000547333 RCV000629267 RCV000629460 RCV000629445 RCV000702471 RCV000690583 RCV000821017 RCV001209289 RCV001241098	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 13	Pathogenic; Likely pathogenic	rs2151267265, rs1359241037, rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs762843285, rs745495583	RCV001594421 RCV001594422 RCV000000287 RCV000000288 RCV000000289 RCV000000290 RCV000000291 RCV002497046 RCV002492940	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs748869874	RCV004782515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heterotaxy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	30939186		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30371289		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	19944400, 19944405		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 13	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	18385425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 13	Ciliary dyskinesia	UNIPROT_DG	19944400, 19944405, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 13	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 13	Ciliary dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	19944400, 19944405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	19944405, 23122589, 25186273, 33174003	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33174003	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30371289		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29228333		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	18385425		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	18385425		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	LHGDN	18385425		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30371289		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	27802415		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	33174003	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	19944400, 19944405		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31770211	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23599692		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	27543293	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	18385425		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19944400, 19944405, 23122589		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	23599692		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	29228333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	27996046		★☆☆☆☆ Found in Text Mining only