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Entry version 138 (13 Nov 2019)
Sequence version 2 (02 Aug 2005)
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Protein

Lebercilin

Gene

LCA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lebercilin1 Publication
Alternative name(s):
Leber congenital amaurosis 5 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LCA5
Synonyms:C6orf152
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:31923 LCA5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611408 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86VQ0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081583218R → G in LCA5; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
167691

MalaCards human disease database

More...
MalaCardsi
LCA5
MIMi604537 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135338

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
65 Leber congenital amaurosis
364055 Severe early-childhood-onset retinal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671563

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86VQ0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LCA5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71658798

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000895461 – 697LebercilinAdd BLAST697

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7PhosphoserineBy similarity1
Modified residuei45PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86VQ0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q86VQ0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86VQ0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86VQ0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86VQ0

PeptideAtlas

More...
PeptideAtlasi
Q86VQ0

PRoteomics IDEntifications database

More...
PRIDEi
Q86VQ0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70054

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86VQ0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86VQ0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135338 Expressed in 165 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86VQ0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86VQ0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029053
HPA029055

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NINL (PubMed:18826961).

Interacts with OFD1 (PubMed:19800048).

Interacts with FAM161A (PubMed:22940612).

Interacts with components of the IFT complex B (PubMed:21606596).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
127950, 118 interactors

Protein interaction database and analysis system

More...
IntActi
Q86VQ0, 119 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000376686

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q86VQ0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili103 – 297Sequence analysisAdd BLAST195
Coiled coili389 – 485Sequence analysisAdd BLAST97

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LCA5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKE1 Eukaryota
ENOG4111R6E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00560000077266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113290

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86VQ0

Identification of Orthologs from Complete Genome Data

More...
OMAi
VQRLYHK

Database of Orthologous Groups

More...
OrthoDBi
344288at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86VQ0

TreeFam database of animal gene trees

More...
TreeFami
TF323306

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026684 Lebercilin
IPR026188 Lebercilin-like
IPR028933 Lebercilin_dom

The PANTHER Classification System

More...
PANTHERi
PTHR16650 PTHR16650, 1 hit
PTHR16650:SF10 PTHR16650:SF10, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15619 Lebercilin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA8F8AB1A565EB633
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3K6S4R3K6_HUMAN
Lebercilin
LCA5
430Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs2655655EnsemblClinVar.1
Natural variantiVAR_03898926D → A. Corresponds to variant dbSNP:rs34068461EnsemblClinVar.1
Natural variantiVAR_03899066R → Q. Corresponds to variant dbSNP:rs35338066Ensembl.1
Natural variantiVAR_081583218R → G in LCA5; unknown pathological significance. 1 Publication1
Natural variantiVAR_038991546A → P. Corresponds to variant dbSNP:rs35415141Ensembl.1
Natural variantiVAR_038992656G → D. Corresponds to variant dbSNP:rs1875845EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4990.1

NCBI Reference Sequences

More...
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

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369846; ENSP00000358861; ENSG00000135338
ENST00000392959; ENSP00000376686; ENSG00000135338

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
167691

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:167691

UCSC genome browser

More...
UCSCi
uc003pix.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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

3D structure databases

SMRiQ86VQ0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127950, 118 interactors
IntActiQ86VQ0, 119 interactors
STRINGi9606.ENSP00000376686

PTM databases

iPTMnetiQ86VQ0
PhosphoSitePlusiQ86VQ0

Polymorphism and mutation databases

BioMutaiLCA5
DMDMi71658798

Proteomic databases

EPDiQ86VQ0
jPOSTiQ86VQ0
MassIVEiQ86VQ0
MaxQBiQ86VQ0
PaxDbiQ86VQ0
PeptideAtlasiQ86VQ0
PRIDEiQ86VQ0
ProteomicsDBi70054

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
167691

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
167691
DisGeNETi167691

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LCA5
HGNCiHGNC:31923 LCA5
HPAiHPA029053
HPA029055
MalaCardsiLCA5
MIMi604537 phenotype
611408 gene
neXtProtiNX_Q86VQ0
OpenTargetsiENSG00000135338
Orphaneti65 Leber congenital amaurosis
364055 Severe early-childhood-onset retinal dystrophy
PharmGKBiPA142671563

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKE1 Eukaryota
ENOG4111R6E LUCA
GeneTreeiENSGT00560000077266
HOGENOMiHOG000113290
InParanoidiQ86VQ0
OMAiVQRLYHK
OrthoDBi344288at2759
PhylomeDBiQ86VQ0
TreeFamiTF323306

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LCA5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
167691
PharosiQ86VQ0

Protein Ontology

More...
PROi
PR:Q86VQ0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135338 Expressed in 165 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ86VQ0 baseline and differential
GenevisibleiQ86VQ0 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLCA5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86VQ0
Secondary accession number(s): E1P542, Q9BWX7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 2, 2005
Last sequence update: August 2, 2005
Last modified: November 13, 2019
This is version 138 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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