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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

  • protein complex binding Source: MGI

GO - Biological processi

Keywordsi

Biological processProtein 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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000135338.13.
HGNCiHGNC:31923. LCA5.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi167691.
GeneReviewsiLCA5.
MalaCardsiLCA5.
MIMi604537. phenotype.
OpenTargetsiENSG00000135338.
Orphaneti65. Leber congenital amaurosis.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA142671563.

Polymorphism and mutation databases

BioMutaiLCA5.
DMDMi71658798.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895461 – 697LebercilinAdd BLAST697

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei7PhosphoserineBy similarity1
Modified residuei45PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86VQ0.
MaxQBiQ86VQ0.
PaxDbiQ86VQ0.
PeptideAtlasiQ86VQ0.
PRIDEiQ86VQ0.

PTM databases

iPTMnetiQ86VQ0.
PhosphoSitePlusiQ86VQ0.

Expressioni

Gene expression databases

BgeeiENSG00000135338.
CleanExiHS_LCA5.
ExpressionAtlasiQ86VQ0. baseline and differential.
GenevisibleiQ86VQ0. HS.

Organism-specific databases

HPAiHPA029053.
HPA029055.

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein complex binding Source: MGI

Protein-protein interaction databases

BioGridi127950. 117 interactors.
IntActiQ86VQ0. 117 interactors.
STRINGi9606.ENSP00000358861.

Structurei

3D structure databases

ProteinModelPortaliQ86VQ0.
SMRiQ86VQ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili103 – 297Sequence analysisAdd BLAST195
Coiled coili389 – 485Sequence analysisAdd BLAST97

Sequence similaritiesi

Belongs to the LCA5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IKE1. Eukaryota.
ENOG4111R6E. LUCA.
GeneTreeiENSGT00560000077266.
HOGENOMiHOG000113290.
HOVERGENiHBG074315.
InParanoidiQ86VQ0.
OMAiNAACQSD.
OrthoDBiEOG091G03XN.
PhylomeDBiQ86VQ0.
TreeFamiTF323306.

Family and domain databases

InterProiView protein in InterPro
IPR026684. Lebercilin.
IPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
PANTHERiPTHR16650. PTHR16650. 1 hit.
PTHR16650:SF10. PTHR16650:SF10. 1 hit.
PfamiView protein in Pfam
PF15619. Lebercilin. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti15K → E in AAH50327 (PubMed:15489334).Curated1
Sequence conflicti502P → R in AAH50327 (PubMed:15489334).Curated1
Sequence conflicti623D → G in AAH50327 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02309424L → S2 PublicationsCorresponds to variant dbSNP:rs2655655Ensembl.1
Natural variantiVAR_03898926D → A. Corresponds to variant dbSNP:rs34068461Ensembl.1
Natural variantiVAR_03899066R → Q. Corresponds to variant dbSNP:rs35338066Ensembl.1
Natural variantiVAR_038991546A → P. Corresponds to variant dbSNP:rs35415141Ensembl.1
Natural variantiVAR_038992656G → D. Corresponds to variant dbSNP:rs1875845Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL391840 Genomic DNA. No translation available.
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_005248665.4.
XP_011533806.1. XM_011535504.1.
UniGeneiHs.21945.

Genome annotation databases

EnsembliENST00000369846; ENSP00000358861; ENSG00000135338.
ENST00000392959; ENSP00000376686; ENSG00000135338.
GeneIDi167691.
KEGGihsa:167691.
UCSCiuc003pix.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLCA5_HUMAN
AccessioniPrimary (citable) accession number: Q86VQ0
Secondary accession number(s): E1P542, Q9BWX7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 2, 2005
Last sequence update: August 2, 2005
Last modified: November 22, 2017
This is version 122 of the entry and version 2 of the sequence. See 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