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Q86VQ0 (LCA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lebercilin
Alternative name(s):
Leber congenital amaurosis 5 protein
Gene names
Name:LCA5
Synonyms:C6orf152
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length697 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Interacts with FAM161A. Ref.7 Ref.8 Ref.9

Subcellular location

Cytoplasmcytoskeleton. Cytoplasmcytoskeletoncilium axoneme. Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: In non- ciliated cells, localizes to the centrosome and its associated microtubule array. Ref.5

Involvement in disease

Leber congenital amaurosis 5 (LCA5) [MIM:604537]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5 Ref.6

Sequence similarities

Belongs to the LCA5 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 697697Lebercilin
PRO_0000089546

Regions

Coiled coil103 – 297195 Potential
Coiled coil389 – 48597 Potential

Natural variations

Natural variant241L → S. Ref.2 Ref.3
Corresponds to variant rs2655655 [ dbSNP | Ensembl ].
VAR_023094
Natural variant261D → A.
Corresponds to variant rs34068461 [ dbSNP | Ensembl ].
VAR_038989
Natural variant661R → Q.
Corresponds to variant rs35338066 [ dbSNP | Ensembl ].
VAR_038990
Natural variant5461A → P.
Corresponds to variant rs35415141 [ dbSNP | Ensembl ].
VAR_038991
Natural variant6561G → D.
Corresponds to variant rs1875845 [ dbSNP | Ensembl ].
VAR_038992

Experimental info

Sequence conflict151K → E in AAH50327. Ref.3
Sequence conflict5021P → R in AAH50327. Ref.3
Sequence conflict6231D → G in AAH50327. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q86VQ0 [UniParc].

Last modified August 2, 2005. Version 2.
Checksum: A8F8AB1A565EB633

FASTA69780,554
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NINL.
[9]"FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."
Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FAM161A.
+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.
CCDSCCDS4990.1.
RefSeqNP_001116241.1. NM_001122769.2.
NP_859065.2. NM_181714.3.
XP_005248722.1. XM_005248665.2.
UniGeneHs.21945.

3D structure databases

ProteinModelPortalQ86VQ0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127950. 1 interaction.
IntActQ86VQ0. 1 interaction.
STRING9606.ENSP00000358861.

PTM databases

PhosphoSiteQ86VQ0.

Polymorphism databases

DMDM71658798.

Proteomic databases

PaxDbQ86VQ0.
PRIDEQ86VQ0.

Protocols and materials databases

DNASU167691.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369846; ENSP00000358861; ENSG00000135338.
ENST00000392959; ENSP00000376686; ENSG00000135338.
GeneID167691.
KEGGhsa:167691.
UCSCuc003pix.3. human.

Organism-specific databases

CTD167691.
GeneCardsGC06M080252.
GeneReviewsLCA5.
H-InvDBHIX0006025.
HGNCHGNC:31923. LCA5.
HPAHPA029053.
MIM604537. phenotype.
611408. gene.
neXtProtNX_Q86VQ0.
Orphanet65. Leber congenital amaurosis.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBPA142671563.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG71875.
HOGENOMHOG000113290.
HOVERGENHBG074315.
InParanoidQ86VQ0.
OMANGHHLQD.
OrthoDBEOG7D85WN.
PhylomeDBQ86VQ0.
TreeFamTF323306.

Gene expression databases

ArrayExpressQ86VQ0.
BgeeQ86VQ0.
CleanExHS_LCA5.
GenevestigatorQ86VQ0.

Family and domain databases

InterProIPR026684. Lebercilin.
IPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view]
PANTHERPTHR16650. PTHR16650. 1 hit.
PTHR16650:SF8. PTHR16650:SF8. 1 hit.
PfamPF15619. Lebercilin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLCA5.
GenomeRNAi167691.
NextBio88685.
PROQ86VQ0.
SOURCESearch...

Entry information

Entry nameLCA5_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM