LRRC50

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 120,301,974 bp [2] End 120,325,193 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell sperm caput epididymis trachea hypothalamus pituitary gland anterior pituitary left uterine tube right lung Top expressed in seminiferous tubule spermatid spermatocyte morula ascending aorta jejunum aortic valve blastocyst duodenum pharynx More reference expression data BioGPS 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 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: 120.3 – 120.33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2002PNAS...9916899M. 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.