LCA5

LCA5
Identifiers
Aliases	LCA5, C6orf152, Leber congenital amaurosis 5, lebercilin, lebercilin LCA5
External IDs	OMIM: 611408 MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	79,537,458 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	83,323,180 bp[2]
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; caput epididymis; ; Achilles tendon; ; secondary oocyte; ; right uterine tube; ; ganglionic eminence; ; corpus epididymis; ; tibialis anterior muscle; ; islet of Langerhans; ; smooth muscle tissue;
	Top expressed in
	superior cervical ganglion; ; hand; ; spermatid; ; spermatocyte; ; trigeminal ganglion; ; retinal pigment epithelium; ; ganglionic eminence; ; primitive streak; ; secondary oocyte; ; habenula;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; protein-containing complex binding;
Cellular component	cytoplasm; cell projection; cilium; cytoskeleton; microtubule organizing center; axoneme; photoreceptor connecting cilium; ciliary basal body;
Biological process	protein transport; intraciliary transport; photoreceptor cell maintenance;
	Sources:Amigo / QuickGO
Orthologs
	167691
	75782
	ENSG00000135338
	ENSMUSG00000032258
	Q86VQ0
	Q80ST9
	NM_001122769; NM_181714
	NM_027448; NM_029434
	NP_001116241; NP_859065
	NP_081724; NP_083710
	Wikidata
View/Edit Human	View/Edit Mouse

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene.[5][6][7] This protein is thought to be involved in centrosomal or ciliary functions.

Clinical significance

Mutations in the LCA5 gene are associated with Leber's congenital amaurosis.

References

GRCh38: Ensembl release 89: ENSG00000135338 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000032258 - 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.
"Entrez Gene: Leber congenital amaurosis 5".
Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH (January 2000). "A novel locus for Leber congenital amaurosis maps to chromosome 6q". Am. J. Hum. Genet. 66 (1): 319–26. doi:10.1086/302719. PMC 1288337. PMID 10631161.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R (July 2007). "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis". Nat. Genet. 39 (7): 889–95. doi:10.1038/ng2066. PMID 17546029. S2CID 13772221.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000135338 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032258 - 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] "Entrez Gene: Leber congenital amaurosis 5".

[pmid10631161-6] Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH (January 2000). "A novel locus for Leber congenital amaurosis maps to chromosome 6q". Am. J. Hum. Genet. 66 (1): 319–26. doi:10.1086/302719. PMC 1288337. PMID 10631161.

[pmid17546029-7] Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R (July 2007). "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis". Nat. Genet. 39 (7): 889–95. doi:10.1038/ng2066. PMID 17546029. S2CID 13772221.

Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 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 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy