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Protein

Lebercilin

Gene

LCA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Might be involved in minus end-directed microtubule transport.

GO - Molecular functioni

  1. protein complex binding Source: MGI

GO - Biological processi

  1. intraciliary transport Source: Ensembl
  2. photoreceptor cell maintenance Source: Ensembl
  3. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Lebercilin
Alternative name(s):
Leber congenital amaurosis 5 protein
Gene namesi
Name:LCA5
Synonyms:C6orf152
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:31923. LCA5.

Subcellular locationi

Cytoplasmcytoskeleton 1 Publication. Cytoplasmcytoskeletoncilium axoneme 1 Publication. Cytoplasmcytoskeletoncilium basal body 1 Publication. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication
Note: In non- ciliated cells, localizes to the centrosome and its associated microtubule array.

GO - Cellular componenti

  1. cilium Source: MGI
  2. cytoplasm Source: UniProtKB-KW
  3. microtubule organizing center Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 5 (LCA5)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:604537

Keywords - Diseasei

Leber congenital amaurosis

Organism-specific databases

MIMi604537. phenotype.
Orphaneti65. Leber congenital amaurosis.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA142671563.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 697697LebercilinPRO_0000089546Add
BLAST

Proteomic databases

MaxQBiQ86VQ0.
PaxDbiQ86VQ0.
PRIDEiQ86VQ0.

PTM databases

PhosphoSiteiQ86VQ0.

Expressioni

Gene expression databases

BgeeiQ86VQ0.
CleanExiHS_LCA5.
ExpressionAtlasiQ86VQ0. baseline and differential.
GenevestigatoriQ86VQ0.

Organism-specific databases

HPAiHPA029053.

Interactioni

Subunit structurei

Interacts with NINL. Interacts with OFD1. Interacts with FAM161A.3 Publications

Protein-protein interaction databases

BioGridi127950. 4 interactions.
IntActiQ86VQ0. 1 interaction.
STRINGi9606.ENSP00000358861.

Structurei

3D structure databases

ProteinModelPortaliQ86VQ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili103 – 297195Sequence AnalysisAdd
BLAST
Coiled coili389 – 48597Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the LCA5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG71875.
GeneTreeiENSGT00560000077266.
HOGENOMiHOG000113290.
HOVERGENiHBG074315.
InParanoidiQ86VQ0.
OMAiNGHHLQD.
OrthoDBiEOG7D85WN.
PhylomeDBiQ86VQ0.
TreeFamiTF323306.

Family and domain databases

InterProiIPR026684. Lebercilin.
IPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view]
PANTHERiPTHR16650. PTHR16650. 1 hit.
PTHR16650:SF8. PTHR16650:SF8. 1 hit.
PfamiPF15619. Lebercilin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86VQ0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGERAGSPGT DQERKAGKHH YSYLSDFETP QSSGRSSLVS SSPASVRRKN
60 70 80 90 100
PKRQTSDGQV HHQAPRKPSP KGLPNRKGVR VGFRSQSLNR EPLRKDTDLV
110 120 130 140 150
TKRILSARLL KINELQNEVS ELQVKLAELL KENKSLKRLQ YRQEKALNKF
160 170 180 190 200
EDAENEISQL IFRHNNEITA LKERLRKSQE KERATEKRVK DTESELFRTK
210 220 230 240 250
FSLQKLKEIS EARHLPERDD LAKKLVSAEL KLDDTERRIK ELSKNLELST
260 270 280 290 300
NSFQRQLLAE RKRAYEAHDE NKVLQKEVQR LYHKLKEKER ELDIKNIYSN
310 320 330 340 350
RLPKSSPNKE KELALRKNAA CQSDFADLCT KGVQTMEDFK PEEYPLTPET
360 370 380 390 400
IMCYENKWEE PGHLTLDLQS QKQDRHGEAG ILNPIMEREE KFVTDEELHV
410 420 430 440 450
VKQEVEKLED EWEREELDKK QKEKASLLER EEKPEWETGR YQLGMYPIQN
460 470 480 490 500
MDKLQGEEEE RLKREMLLAK LNEIDRELQD SRNLKYPVLP LLPDFESKLH
510 520 530 540 550
SPERSPKTYR FSESSERLFN GHHLQDISFS TPKGEGQNSG NVRSPASPNE
560 570 580 590 600
FAFGSYVPSF AKTSERSNPF SQKSSFLDFQ RNSMEKLSKD GVDLITRKEK
610 620 630 640 650
KANLMEQLFG ASGSSTISSK SSDPNSVASS KGDIDPLNFL PGNKGSRDQE
660 670 680 690
HDEDEGFFLS EGRSFNPNRH RLKHADDKPA VKAADSVEDE IEEVALR
Length:697
Mass (Da):80,554
Last modified:August 2, 2005 - v2
Checksum:iA8F8AB1A565EB633
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151K → E in AAH50327 (PubMed:15489334).Curated
Sequence conflicti502 – 5021P → R in AAH50327 (PubMed:15489334).Curated
Sequence conflicti623 – 6231D → G in AAH50327 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241L → S.2 Publications
Corresponds to variant rs2655655 [ dbSNP | Ensembl ].
VAR_023094
Natural varianti26 – 261D → A.
Corresponds to variant rs34068461 [ dbSNP | Ensembl ].
VAR_038989
Natural varianti66 – 661R → Q.
Corresponds to variant rs35338066 [ dbSNP | Ensembl ].
VAR_038990
Natural varianti546 – 5461A → P.
Corresponds to variant rs35415141 [ dbSNP | Ensembl ].
VAR_038991
Natural varianti656 – 6561G → D.
Corresponds to variant rs1875845 [ dbSNP | Ensembl ].
VAR_038992

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL391840 Genomic DNA. Translation: CAC37303.1.
CH471051 Genomic DNA. Translation: EAW48705.1.
CH471051 Genomic DNA. Translation: EAW48706.1.
BC050327 mRNA. Translation: AAH50327.1.
CCDSiCCDS4990.1.
RefSeqiNP_001116241.1. NM_001122769.2.
NP_859065.2. NM_181714.3.
XP_005248722.1. XM_005248665.2.
UniGeneiHs.21945.

Genome annotation databases

EnsembliENST00000369846; ENSP00000358861; ENSG00000135338.
ENST00000392959; ENSP00000376686; ENSG00000135338.
GeneIDi167691.
KEGGihsa:167691.
UCSCiuc003pix.3. human.

Polymorphism databases

DMDMi71658798.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL391840 Genomic DNA. Translation: CAC37303.1.
CH471051 Genomic DNA. Translation: EAW48705.1.
CH471051 Genomic DNA. Translation: EAW48706.1.
BC050327 mRNA. Translation: AAH50327.1.
CCDSiCCDS4990.1.
RefSeqiNP_001116241.1. NM_001122769.2.
NP_859065.2. NM_181714.3.
XP_005248722.1. XM_005248665.2.
UniGeneiHs.21945.

3D structure databases

ProteinModelPortaliQ86VQ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127950. 4 interactions.
IntActiQ86VQ0. 1 interaction.
STRINGi9606.ENSP00000358861.

PTM databases

PhosphoSiteiQ86VQ0.

Polymorphism databases

DMDMi71658798.

Proteomic databases

MaxQBiQ86VQ0.
PaxDbiQ86VQ0.
PRIDEiQ86VQ0.

Protocols and materials databases

DNASUi167691.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369846; ENSP00000358861; ENSG00000135338.
ENST00000392959; ENSP00000376686; ENSG00000135338.
GeneIDi167691.
KEGGihsa:167691.
UCSCiuc003pix.3. human.

Organism-specific databases

CTDi167691.
GeneCardsiGC06M080252.
GeneReviewsiLCA5.
H-InvDBHIX0006025.
HGNCiHGNC:31923. LCA5.
HPAiHPA029053.
MIMi604537. phenotype.
611408. gene.
neXtProtiNX_Q86VQ0.
Orphaneti65. Leber congenital amaurosis.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA142671563.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG71875.
GeneTreeiENSGT00560000077266.
HOGENOMiHOG000113290.
HOVERGENiHBG074315.
InParanoidiQ86VQ0.
OMAiNGHHLQD.
OrthoDBiEOG7D85WN.
PhylomeDBiQ86VQ0.
TreeFamiTF323306.

Miscellaneous databases

GeneWikiiLCA5.
GenomeRNAii167691.
NextBioi88685.
PROiQ86VQ0.
SOURCEiSearch...

Gene expression databases

BgeeiQ86VQ0.
CleanExiHS_LCA5.
ExpressionAtlasiQ86VQ0. baseline and differential.
GenevestigatoriQ86VQ0.

Family and domain databases

InterProiIPR026684. Lebercilin.
IPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view]
PANTHERiPTHR16650. PTHR16650. 1 hit.
PTHR16650:SF8. PTHR16650:SF8. 1 hit.
PfamiPF15619. Lebercilin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. 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(2003) [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(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LCA5.
  5. 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(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LCA5.
  7. 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(2008) [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(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FAM161A.

Entry informationi

Entry nameiLCA5_HUMAN
AccessioniPrimary (citable) accession number: Q86VQ0
Secondary accession number(s): E1P542, Q9BWX7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 2, 2005
Last sequence update: August 2, 2005
Last modified: March 4, 2015
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.