LRRC50

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.[5][6]

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 HomoloGene: 12256 GeneCards: DNAAF1
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.1 Start 84,145,287 bp[1] End 84,178,767 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 119,575,235 bp[2] End 119,598,454 bp[2]
Gene ontology Molecular function • dynein complex binding Cellular component • cell projection • spindle pole • cell membrane • cilium • GO:0035085 axoneme • cytoskeleton • cytoplasm • cytosol • nuclear speck • extracellular region Biological process • cilium morphogenesis • 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
Species	Human	Mouse
Entrez	123872	68270
Ensembl	ENSG00000154099	ENSMUSG00000031831
UniProt	Q8NEP3	Q9D2H9
RefSeq (mRNA)	NM_178452 NM_001318756	NM_026648
RefSeq (protein)	NP_001305685 NP_848547	NP_080924
Location (UCSC)	Chr 16: 84.15 – 84.18 Mb	Chr 8: 119.58 – 119.6 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Leucine-rich repeat-containing protein 50 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.[5]

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000154099 - Ensembl, May 2017
2. 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.
5. "Entrez Gene: leucine rich repeat containing 50".
6. 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.

Further reading

• van Rooijen E, Giles RH, Voest EE, et al. (2008). "LRRC50, a conserved ciliary protein implicated in polycystic kidney disease". J. Am. Soc. Nephrol. 19 (6): 1128–38. doi:10.1681/ASN.2007080917. PMC 2396934. PMID 18385425.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Loges NT, Olbrich H, Becker-Heck A, et al. (2009). "Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects". Am. J. Hum. Genet. 85 (6): 883–9. doi:10.1016/j.ajhg.2009.10.018. PMC 2795801. PMID 19944400.

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.