DNAAF1 - dynein axonemal assembly factor 1 Gene

Homo sapiens

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

Gene ID: 123872 | Gene type: protein coding

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	Reference	Source
enables dynein complex binding	IMP IMP: Inferred from mutant phenotype	18385425	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

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

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