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Q86VQ0

- LCA5_HUMAN

UniProt

Q86VQ0 - LCA5_HUMAN

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Protein
Lebercilin
Gene
LCA5, C6orf152
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Might be involved in minus end-directed microtubule transport.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. 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: Chromosome 6

Organism-specific databases

HGNCiHGNC:31923. LCA5.

Subcellular locationi

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

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) [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.3 Publications

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 – 697697Lebercilin
PRO_0000089546Add
BLAST

Proteomic databases

PaxDbiQ86VQ0.
PRIDEiQ86VQ0.

PTM databases

PhosphoSiteiQ86VQ0.

Expressioni

Gene expression databases

ArrayExpressiQ86VQ0.
BgeeiQ86VQ0.
CleanExiHS_LCA5.
GenevestigatoriQ86VQ0.

Organism-specific databases

HPAiHPA029053.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127950. 1 interaction.
IntActiQ86VQ0. 1 interaction.
STRINGi9606.ENSP00000358861.

Structurei

3D structure databases

ProteinModelPortaliQ86VQ0.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili103 – 297195 Reviewed prediction
Add
BLAST
Coiled coili389 – 48597 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the LCA5 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG71875.
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

MGERAGSPGT DQERKAGKHH YSYLSDFETP QSSGRSSLVS SSPASVRRKN    50
PKRQTSDGQV HHQAPRKPSP KGLPNRKGVR VGFRSQSLNR EPLRKDTDLV 100
TKRILSARLL KINELQNEVS ELQVKLAELL KENKSLKRLQ YRQEKALNKF 150
EDAENEISQL IFRHNNEITA LKERLRKSQE KERATEKRVK DTESELFRTK 200
FSLQKLKEIS EARHLPERDD LAKKLVSAEL KLDDTERRIK ELSKNLELST 250
NSFQRQLLAE RKRAYEAHDE NKVLQKEVQR LYHKLKEKER ELDIKNIYSN 300
RLPKSSPNKE KELALRKNAA CQSDFADLCT KGVQTMEDFK PEEYPLTPET 350
IMCYENKWEE PGHLTLDLQS QKQDRHGEAG ILNPIMEREE KFVTDEELHV 400
VKQEVEKLED EWEREELDKK QKEKASLLER EEKPEWETGR YQLGMYPIQN 450
MDKLQGEEEE RLKREMLLAK LNEIDRELQD SRNLKYPVLP LLPDFESKLH 500
SPERSPKTYR FSESSERLFN GHHLQDISFS TPKGEGQNSG NVRSPASPNE 550
FAFGSYVPSF AKTSERSNPF SQKSSFLDFQ RNSMEKLSKD GVDLITRKEK 600
KANLMEQLFG ASGSSTISSK SSDPNSVASS KGDIDPLNFL PGNKGSRDQE 650
HDEDEGFFLS EGRSFNPNRH RLKHADDKPA VKAADSVEDE IEEVALR 697
Length:697
Mass (Da):80,554
Last modified:August 2, 2005 - v2
Checksum:iA8F8AB1A565EB633
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151K → E in AAH50327. 1 Publication
Sequence conflicti502 – 5021P → R in AAH50327. 1 Publication
Sequence conflicti623 – 6231D → G in AAH50327. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS4990.1.
RefSeqi NP_001116241.1. NM_001122769.2.
NP_859065.2. NM_181714.3.
XP_005248722.1. XM_005248665.2.
UniGenei Hs.21945.

3D structure databases

ProteinModelPortali Q86VQ0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127950. 1 interaction.
IntActi Q86VQ0. 1 interaction.
STRINGi 9606.ENSP00000358861.

PTM databases

PhosphoSitei Q86VQ0.

Polymorphism databases

DMDMi 71658798.

Proteomic databases

PaxDbi Q86VQ0.
PRIDEi Q86VQ0.

Protocols and materials databases

DNASUi 167691.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369846 ; ENSP00000358861 ; ENSG00000135338 .
ENST00000392959 ; ENSP00000376686 ; ENSG00000135338 .
GeneIDi 167691.
KEGGi hsa:167691.
UCSCi uc003pix.3. human.

Organism-specific databases

CTDi 167691.
GeneCardsi GC06M080252.
GeneReviewsi LCA5.
H-InvDB HIX0006025.
HGNCi HGNC:31923. LCA5.
HPAi HPA029053.
MIMi 604537. phenotype.
611408. gene.
neXtProti NX_Q86VQ0.
Orphaneti 65. Leber congenital amaurosis.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBi PA142671563.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG71875.
HOGENOMi HOG000113290.
HOVERGENi HBG074315.
InParanoidi Q86VQ0.
OMAi NGHHLQD.
OrthoDBi EOG7D85WN.
PhylomeDBi Q86VQ0.
TreeFami TF323306.

Miscellaneous databases

GeneWikii LCA5.
GenomeRNAii 167691.
NextBioi 88685.
PROi Q86VQ0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86VQ0.
Bgeei Q86VQ0.
CleanExi HS_LCA5.
Genevestigatori Q86VQ0.

Family and domain databases

InterProi IPR026684. Lebercilin.
IPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view ]
PANTHERi PTHR16650. PTHR16650. 1 hit.
PTHR16650:SF8. PTHR16650:SF8. 1 hit.
Pfami PF15619. Lebercilin. 1 hit.
[Graphical view ]
ProtoNeti Search...

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(2003) [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(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. 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. 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.

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: July 9, 2014
This is version 94 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