UniProtKB - Q86VQ0 (LCA5_HUMAN)
Protein
Lebercilin
Gene
LCA5
Organism
Homo sapiens (Human)
Status
Functioni
Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.By similarity
GO - Molecular functioni
- protein-containing complex binding Source: MGI
GO - Biological processi
- intraciliary transport Source: GO_Central
- photoreceptor cell maintenance Source: UniProtKB
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q86VQ0 |
Names & Taxonomyi
Protein namesi | Recommended name: Lebercilin1 PublicationAlternative name(s): Leber congenital amaurosis 5 protein |
Gene namesi | Name:LCA5 Synonyms:C6orf152 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000135338.13 |
HGNCi | HGNC:31923, LCA5 |
MIMi | 611408, gene |
neXtProti | NX_Q86VQ0 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
- cilium axoneme 1 Publication
- cilium basal body 1 Publication
- centrosome 1 Publication
Other locations
- cilium 1 Publication
Note: In non- ciliated cells, localizes to the centrosome and its associated microtubule array (PubMed:17546029). Colocalizes with IFT complex A and B proteins in the connecting cilium in primary cilia of hTERT-RPE1 cells (PubMed:21606596).2 Publications
Cytoskeleton
- axoneme Source: GO_Central
- ciliary basal body Source: UniProtKB
Other locations
- cilium Source: MGI
- photoreceptor connecting cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Leber congenital amaurosis 5 (LCA5)4 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081583 | 218 | R → G in LCA5; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Leber congenital amaurosisOrganism-specific databases
DisGeNETi | 167691 |
MalaCardsi | LCA5 |
MIMi | 604537, phenotype |
OpenTargetsi | ENSG00000135338 |
Orphaneti | 65, Leber congenital amaurosis 364055, Severe early-childhood-onset retinal dystrophy |
PharmGKBi | PA142671563 |
Miscellaneous databases
Pharosi | Q86VQ0, Tbio |
Polymorphism and mutation databases
BioMutai | LCA5 |
DMDMi | 71658798 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089546 | 1 – 697 | LebercilinAdd BLAST | 697 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 7 | PhosphoserineBy similarity | 1 | |
Modified residuei | 45 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86VQ0 |
jPOSTi | Q86VQ0 |
MassIVEi | Q86VQ0 |
MaxQBi | Q86VQ0 |
PaxDbi | Q86VQ0 |
PeptideAtlasi | Q86VQ0 |
PRIDEi | Q86VQ0 |
ProteomicsDBi | 70054 |
PTM databases
iPTMneti | Q86VQ0 |
PhosphoSitePlusi | Q86VQ0 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000135338, Expressed in corpus callosum and 179 other tissues |
ExpressionAtlasi | Q86VQ0, baseline and differential |
Genevisiblei | Q86VQ0, HS |
Organism-specific databases
HPAi | ENSG00000135338, Tissue enhanced (parathyroid) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ86VQ0
Protein-protein interaction databases
BioGRIDi | 127950, 122 interactors |
IntActi | Q86VQ0, 119 interactors |
STRINGi | 9606.ENSP00000376686 |
Miscellaneous databases
RNActi | Q86VQ0, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 103 – 297 | Sequence analysisAdd BLAST | 195 | |
Coiled coili | 389 – 485 | Sequence analysisAdd BLAST | 97 |
Sequence similaritiesi
Belongs to the LCA5 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QQG3, Eukaryota |
GeneTreei | ENSGT00560000077266 |
HOGENOMi | CLU_017042_0_0_1 |
InParanoidi | Q86VQ0 |
OMAi | VQRLYHK |
OrthoDBi | 344288at2759 |
PhylomeDBi | Q86VQ0 |
TreeFami | TF323306 |
Family and domain databases
InterProi | View protein in InterPro IPR026684, Lebercilin IPR026188, Lebercilin-like IPR028933, Lebercilin_dom |
PANTHERi | PTHR16650, PTHR16650, 1 hit PTHR16650:SF10, PTHR16650:SF10, 1 hit |
Pfami | View protein in Pfam PF15619, Lebercilin, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q86VQ0-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketS4R3K6 | S4R3K6_HUMAN | Lebercilin | LCA5 | 430 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 15 | K → E in AAH50327 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 502 | P → R in AAH50327 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 623 | D → G in AAH50327 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023094 | 24 | L → S2 PublicationsCorresponds to variant dbSNP:rs2655655EnsemblClinVar. | 1 | |
Natural variantiVAR_038989 | 26 | D → A. Corresponds to variant dbSNP:rs34068461EnsemblClinVar. | 1 | |
Natural variantiVAR_038990 | 66 | R → Q. Corresponds to variant dbSNP:rs35338066EnsemblClinVar. | 1 | |
Natural variantiVAR_081583 | 218 | R → G in LCA5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_038991 | 546 | A → P. Corresponds to variant dbSNP:rs35415141Ensembl. | 1 | |
Natural variantiVAR_038992 | 656 | G → D. Corresponds to variant dbSNP:rs1875845EnsemblClinVar. | 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 |
CCDSi | CCDS4990.1 |
RefSeqi | NP_001116241.1, NM_001122769.2 NP_859065.2, NM_181714.3 XP_005248722.1, XM_005248665.4 XP_011533806.1, XM_011535504.1 |
Genome annotation databases
Ensembli | ENST00000369846; ENSP00000358861; ENSG00000135338 ENST00000392959; ENSP00000376686; ENSG00000135338 |
GeneIDi | 167691 |
KEGGi | hsa:167691 |
UCSCi | uc003pix.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS4990.1 |
RefSeqi | NP_001116241.1, NM_001122769.2 NP_859065.2, NM_181714.3 XP_005248722.1, XM_005248665.4 XP_011533806.1, XM_011535504.1 |
3D structure databases
SMRi | Q86VQ0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127950, 122 interactors |
IntActi | Q86VQ0, 119 interactors |
STRINGi | 9606.ENSP00000376686 |
PTM databases
iPTMneti | Q86VQ0 |
PhosphoSitePlusi | Q86VQ0 |
Polymorphism and mutation databases
BioMutai | LCA5 |
DMDMi | 71658798 |
Proteomic databases
EPDi | Q86VQ0 |
jPOSTi | Q86VQ0 |
MassIVEi | Q86VQ0 |
MaxQBi | Q86VQ0 |
PaxDbi | Q86VQ0 |
PeptideAtlasi | Q86VQ0 |
PRIDEi | Q86VQ0 |
ProteomicsDBi | 70054 |
Protocols and materials databases
Antibodypediai | 31597, 121 antibodies |
DNASUi | 167691 |
Genome annotation databases
Ensembli | ENST00000369846; ENSP00000358861; ENSG00000135338 ENST00000392959; ENSP00000376686; ENSG00000135338 |
GeneIDi | 167691 |
KEGGi | hsa:167691 |
UCSCi | uc003pix.4, human |
Organism-specific databases
CTDi | 167691 |
DisGeNETi | 167691 |
EuPathDBi | HostDB:ENSG00000135338.13 |
GeneCardsi | LCA5 |
HGNCi | HGNC:31923, LCA5 |
HPAi | ENSG00000135338, Tissue enhanced (parathyroid) |
MalaCardsi | LCA5 |
MIMi | 604537, phenotype 611408, gene |
neXtProti | NX_Q86VQ0 |
OpenTargetsi | ENSG00000135338 |
Orphaneti | 65, Leber congenital amaurosis 364055, Severe early-childhood-onset retinal dystrophy |
PharmGKBi | PA142671563 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQG3, Eukaryota |
GeneTreei | ENSGT00560000077266 |
HOGENOMi | CLU_017042_0_0_1 |
InParanoidi | Q86VQ0 |
OMAi | VQRLYHK |
OrthoDBi | 344288at2759 |
PhylomeDBi | Q86VQ0 |
TreeFami | TF323306 |
Enzyme and pathway databases
PathwayCommonsi | Q86VQ0 |
Miscellaneous databases
BioGRID-ORCSi | 167691, 0 hits in 843 CRISPR screens |
GeneWikii | LCA5 |
GenomeRNAii | 167691 |
Pharosi | Q86VQ0, Tbio |
PROi | PR:Q86VQ0 |
RNActi | Q86VQ0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135338, Expressed in corpus callosum and 179 other tissues |
ExpressionAtlasi | Q86VQ0, baseline and differential |
Genevisiblei | Q86VQ0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026684, Lebercilin IPR026188, Lebercilin-like IPR028933, Lebercilin_dom |
PANTHERi | PTHR16650, PTHR16650, 1 hit PTHR16650:SF10, PTHR16650:SF10, 1 hit |
Pfami | View protein in Pfam PF15619, Lebercilin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LCA5_HUMAN | |
Accessioni | Q86VQ0Primary (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: | December 2, 2020 | |
This is version 145 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations