Q86VQ0 (LCA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lebercilin

Alternative name(s):
Leber congenital amaurosis 5 protein

Gene names

Name:	LCA5
Synonyms:	C6orf152

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	697 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Might be involved in minus end-directed microtubule transport. Ref.5
Subunit structure	Interacts with NINL. Interacts with OFD1. Ref.7 Ref.8
Subcellular location	Cytoplasm › cytoskeleton. Cytoplasm › cytoskeleton › cilium axoneme. Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › centrosome. Note: In non-ciliated cells, localizes to the centrosome and its associated microtubule array. Ref.5
Involvement in disease	Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Ref.4 Ref.5 Ref.6
Sequence similarities	Belongs to the LCA5 family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Polymorphism
Disease	Leber congenital amaurosis
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction Ref.7. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 697	697	Lebercilin		PRO_0000089546
Regions
	Coiled coil	103 – 297	195	Potential
	Coiled coil	389 – 485	97	Potential
Natural variations
	Natural variant	24	1	L → S. Ref.2 Ref.3 Corresponds to variant rs2655655 [ dbSNP | Ensembl ].		VAR_023094
	Natural variant	26	1	D → A. Corresponds to variant rs34068461 [ dbSNP | Ensembl ].		VAR_038989
	Natural variant	66	1	R → Q. Corresponds to variant rs35338066 [ dbSNP | Ensembl ].		VAR_038990
	Natural variant	546	1	A → P. Corresponds to variant rs35415141 [ dbSNP | Ensembl ].		VAR_038991
	Natural variant	656	1	G → D. Corresponds to variant rs1875845 [ dbSNP | Ensembl ].		VAR_038992
Experimental info
	Sequence conflict	15	1	K → E in AAH50327. Ref.3
	Sequence conflict	502	1	P → R in AAH50327. Ref.3
	Sequence conflict	623	1	D → G in AAH50327. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q86VQ0 [UniParc]. Last modified August 2, 2005. Version 2. Checksum: A8F8AB1A565EB633	FASTA	697	80,554
	10 20 30 40 50 60 MGERAGSPGT DQERKAGKHH YSYLSDFETP QSSGRSSLVS SSPASVRRKN PKRQTSDGQV 70 80 90 100 110 120 HHQAPRKPSP KGLPNRKGVR VGFRSQSLNR EPLRKDTDLV TKRILSARLL KINELQNEVS 130 140 150 160 170 180 ELQVKLAELL KENKSLKRLQ YRQEKALNKF EDAENEISQL IFRHNNEITA LKERLRKSQE 190 200 210 220 230 240 KERATEKRVK DTESELFRTK FSLQKLKEIS EARHLPERDD LAKKLVSAEL KLDDTERRIK 250 260 270 280 290 300 ELSKNLELST NSFQRQLLAE RKRAYEAHDE NKVLQKEVQR LYHKLKEKER ELDIKNIYSN 310 320 330 340 350 360 RLPKSSPNKE KELALRKNAA CQSDFADLCT KGVQTMEDFK PEEYPLTPET IMCYENKWEE 370 380 390 400 410 420 PGHLTLDLQS QKQDRHGEAG ILNPIMEREE KFVTDEELHV VKQEVEKLED EWEREELDKK 430 440 450 460 470 480 QKEKASLLER EEKPEWETGR YQLGMYPIQN MDKLQGEEEE RLKREMLLAK LNEIDRELQD 490 500 510 520 530 540 SRNLKYPVLP LLPDFESKLH SPERSPKTYR FSESSERLFN GHHLQDISFS TPKGEGQNSG 550 560 570 580 590 600 NVRSPASPNE FAFGSYVPSF AKTSERSNPF SQKSSFLDFQ RNSMEKLSKD GVDLITRKEK 610 620 630 640 650 660 KANLMEQLFG ASGSSTISSK SSDPNSVASS KGDIDPLNFL PGNKGSRDQE HDEDEGFFLS 670 680 690 EGRSFNPNRH RLKHADDKPA VKAADSVEDE IEEVALR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-24.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-24. Tissue: Testis.
[4]	"Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II." Gerber S., Hanein S., Perrault I., Delphin N., Aboussair N., Leowski C., Dufier J.-L., Roche O., Munnich A., Kaplan J., Rozet J.-M. Hum. Mutat. 28:1245-1245(2007) [PubMed: 18000884] [Abstract] Cited for: INVOLVEMENT IN LCA5.
[5]	"Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis." den Hollander A.I., Koenekoop R.K., Mohamed M.D., Arts H.H., Boldt K., Towns K.V., Sedmak T., Beer M., Nagel-Wolfrum K., McKibbin M., Dharmaraj S., Lopez I., Ivings L., Williams G.A., Springell K., Woods C.G., Jafri H., Rashid Y. , Strom T.M., van der Zwaag B., Gosens I., Kersten F.F.J., van Wijk E., Veltman J.A., Zonneveld M.N., van Beersum S.E.C., Maumenee I.H., Wolfrum U., Cheetham M.E., Ueffing M., Cremers F.P.M., Inglehearn C.F., Roepman R. Nat. Genet. 39:889-895(2007) [PubMed: 17546029] [Abstract] Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN LCA5, POSSIBLE FUNCTION.
[6]	"Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis." Ramprasad V.L., Soumittra N., Nancarrow D., Sen P., McKibbin M., Williams G.A., Arokiasamy T., Lakshmipathy P., Inglehearn C.F., Kumaramanickavel G. Mol. Vis. 14:481-486(2008) [PubMed: 18334959] [Abstract] Cited for: INVOLVEMENT IN LCA5.
[7]	"OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin." Coene K.L., Roepman R., Doherty D., Afroze B., Kroes H.Y., Letteboer S.J., Ngu L.H., Budny B., van Wijk E., Gorden N.T., Azhimi M., Thauvin-Robinet C., Veltman J.A., Boink M., Kleefstra T., Cremers F.P., van Bokhoven H., de Brouwer A.P. Am. J. Hum. Genet. 85:465-481(2009) [PubMed: 19800048] [Abstract] Cited for: INTERACTION WITH OFD1.
[8]	"Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein." van Wijk E., Kersten F.F.J., Kartono A., Mans D.A., Brandwijk K., Letteboer S.J.F., Peters T.A., Maerker T., Yan X., Cremers C.W.R.J., Cremers F.P.M., Wolfrum U., Roepman R., Kremer H. Hum. Mol. Genet. 18:51-64(2009) [PubMed: 18826961] [Abstract] Cited for: INTERACTION WITH NINL.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL391840 Genomic DNA. Translation: CAC37303.1. CH471051 Genomic DNA. Translation: EAW48705.1. CH471051 Genomic DNA. Translation: EAW48706.1. BC050327 mRNA. Translation: AAH50327.1.
IPI	IPI00334013.
RefSeq	NP_001116241.1. NM_001122769.2. NP_859065.2. NM_181714.3.
UniGene	Hs.21945.
3D structure databases
ProteinModelPortal	Q86VQ0.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86VQ0.
PTM databases
PhosphoSite	Q86VQ0.
Polymorphism databases
DMDM	71658798.
Proteomic databases
PRIDE	Q86VQ0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369846; ENSP00000358861; ENSG00000135338. ENST00000392959; ENSP00000376686; ENSG00000135338. ENST00000392960; ENSP00000376687; ENSG00000135338.
GeneID	167691.
KEGG	hsa:167691.
UCSC	uc003pix.1. human.
Organism-specific databases
CTD	167691.
GeneCards	GC06M080252.
H-InvDB	HIX0006025.
HGNC	HGNC:31923. LCA5.
HPA	HPA029053.
MIM	604537. phenotype. 611408. gene.
neXtProt	NX_Q86VQ0.
Orphanet	65. Congenital Leber amaurosis.
PharmGKB	PA142671563.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08614.
GeneTree	ENSGT00560000077266.
HOGENOM	HBG445543.
HOVERGEN	HBG074315.
InParanoid	Q86VQ0.
OMA	LFNGHHL.
OrthoDB	EOG4P2Q30.
PhylomeDB	Q86VQ0.
Gene expression databases
ArrayExpress	Q86VQ0.
Bgee	Q86VQ0.
CleanEx	HS_LCA5.
Genevestigator	Q86VQ0.
GermOnline	ENSG00000135338. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	88685.
SOURCE	Search...

Entry information

Entry name

LCA5_HUMAN

Accession

Primary (citable) accession number: Q86VQ0
Secondary accession number(s): E1P542, Q9BWX7

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2005
Last sequence update:	August 2, 2005
Last modified:	January 25, 2012
This is version 69 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.