DNAAF1

DNAAF1
Identifiers
Aliases	DNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1, dynein axonemal assembly factor 1, swt, DAU1
External IDs	OMIM: 613190; MGI: 1915520; GeneCards: DNAAF1
Gene location (Human)
Chr.	Chromosome 16 (human)
End	84,178,767 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	120,325,193 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; bronchial epithelial cell; ; left testis; ; right testis; ; olfactory zone of nasal mucosa; ; nasal epithelium; ; mucosa of paranasal sinus; ; male germ cell; ; sperm; ; caput epididymis;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; morula; ; ascending aorta; ; jejunum; ; aortic valve; ; blastocyst; ; duodenum; ; pharynx;
	More reference expression data
	n/a
Gene ontology
Molecular function	dynein complex binding;
Cellular component	cell projection; spindle pole; plasma membrane; cilium; axoneme; cytoskeleton; cytoplasm; cytosol; nuclear speck; extracellular region;
Biological process	cilium assembly; determination of pancreatic left/right asymmetry; outer dynein arm assembly; axonemal dynein complex assembly; lung development; epithelial cilium movement involved in determination of left/right asymmetry; determination of digestive tract left/right asymmetry; determination of liver left/right asymmetry; heart looping; cilium movement; inner dynein arm assembly; left/right pattern formation; regulation of cilium beat frequency; motile cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	123872
	68270
	ENSG00000154099
	ENSMUSG00000031831
	Q8NEP3
	Q9D2H9
	NM_178452; NM_001318756
	NM_026648
	NP_001305685; NP_848547
	NP_080924
	Wikidata
View/Edit Human	View/Edit Mouse

Dynein axonemal assembly factor 1 is a protein that in humans is encoded by the DNAAF1 gene (previously LRRC50)

Function

Dynein axonemal assembly factor 1 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.

Clinical significance

Mutations in the DNAAF1 gene are associated with primary ciliary dyskinesia.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000154099 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031831 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: leucine rich repeat containing 50".
1 2 Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S (December 2009). "Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia". Am. J. Hum. Genet. 85 (6): 890–6. doi:10.1016/j.ajhg.2009.11.008. PMC 2790569. PMID 19944405.

External links

GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000154099 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031831 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: leucine rich repeat containing 50".

[pmid19944405-6] 1 2 Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S (December 2009). "Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia". Am. J. Hum. Genet. 85 (6): 890–6. doi:10.1016/j.ajhg.2009.11.008. PMC 2790569. PMID 19944405.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 DNAAF1 INPP5E KIF3A SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

DNAAF1

Function

Clinical significance

References

Further reading

External links