DNAAF1 - dynein axonemal assembly factor 1 Gene

Also Known as swt; DAU1; ODA7; CILD13; LRRC50

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 123872

About DNAAF1

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:84,145,308-84,177,920 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues, 13 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.0), lung (RPKM 5.3) and 20 other tissues.

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 with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

DNAAF1 Products (2)

mRNA	Protein	Name
NM_001318756.1	NP_001305685.1	dynein axonemal assembly factor 1 isoform 2
NM_178452.6	NP_848547.4	dynein axonemal assembly factor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dynein complex binding	IMP IMP: Inferred from mutant phenotype	18385425	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axonemal dynein complex assembly	IMP IMP: Inferred from mutant phenotype	19944400	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	18385425	GOA
involved in cilium movement	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in determination of digestive tract left/right asymmetry	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in determination of liver left/right asymmetry	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in determination of pancreatic left/right asymmetry	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in heart looping	IMP IMP: Inferred from mutant phenotype	19944400	GOA
involved in inner dynein arm assembly	IMP IMP: Inferred from mutant phenotype	19944400	GOA
involved in left/right pattern formation	IMP IMP: Inferred from mutant phenotype	19944400	GOA
involved in lung development	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in motile cilium assembly	IMP IMP: Inferred from mutant phenotype	19944405	GOA
involved in outer dynein arm assembly	IMP IMP: Inferred from mutant phenotype	19944400	GOA
involved in regulation of cilium beat frequency	IMP IMP: Inferred from mutant phenotype	19944400	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	18385425	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
dynein axonemal assembly factor 1	dynein assembly factor 1, axonemal

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 13	Primary Ciliary Dyskinesia 13 CILD13 Primary Ciliary Dyskinesia 13 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 13, With Or Without Situs Inversus Ics13 Immotile Cilia Syndrome 13 Dyskinesia, Ciliary, Primary, 13
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Kartagener Syndrome	Kartagener'S Syndrome
Bronchiectasis	Polynesian Bronchiectasis Kartagener Syndrome Bronchiectasis Nos
Ciliary Dyskinesia, Primary, 2	Primary Ciliary Dyskinesia 2 CILD2 Primary Ciliary Dyskinesia 2 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus Ics2 Immotile Cilia Syndrome 2 Dyskinesia, Ciliary, Primary, 2
Ethmoid Sinusitis	Ethmoidal Sinusitis Ethmoiditis
Paranasal Sinus Disease	Paranasal Sinus Diseases Disorder Of Nasal Sinus
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03839	DNAAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAAF1	VGNC	VGNC:61537
Bos taurus	DNAAF1	VGNC	VGNC:50155
Mus musculus	DNAAF1	MGD	MGI:1915520
Rattus norvegicus	DNAAF1	RGD	RGD:1310542
Macaca mulatta	DNAAF1	VGNC	VGNC:72005
Canis familiaris	DNAAF1	VGNC	VGNC:53344
Others	DNAAF1	NCBI