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Q86VQ0

- LCA5_HUMAN

UniProt

Q86VQ0 - LCA5_HUMAN

Protein

Lebercilin

Gene

LCA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (02 Aug 2005)
      Previous versions | rss
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    Functioni

    Might be involved in minus end-directed microtubule transport.

    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

    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 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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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

    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.
    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.
    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

    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:
    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

    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: October 1, 2014
    This is version 95 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