LCA5

Functionⁱ

Might be involved in minus end-directed microtubule transport.

GO - Molecular functionⁱ

protein-containing complex binding
Source: MGI
Inferred from direct assayⁱ
- 21606596

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

intraciliary transport
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
protein transport Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Protein transport, Transport

Biological process

Protein transport, Transport

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Lebercilin Alternative name(s): Leber congenital amaurosis 5 protein
Gene namesⁱ	Name:LCA5 Synonyms:C6orf152
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000135338.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:31923 LCA5
MIMⁱ	611408 gene
neXtProtⁱ	NX_Q86VQ0

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.

Keywords - Diseaseⁱ

Leber congenital amaurosis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	167691
GeneReviewsⁱ	LCA5
MalaCards human disease database More...MalaCardsⁱ	LCA5
MIMⁱ	604537 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000135338
Orphanetⁱ	65 Leber congenital amaurosis 364055 Severe early-childhood-onset retinal dystrophy
PharmGKBⁱ	PA142671563

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

Phosphoprotein

Proteomic databases

EPDⁱ	Q86VQ0
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q86VQ0
PaxDbⁱ	Q86VQ0
PeptideAtlas More...PeptideAtlasⁱ	Q86VQ0
PRIDEⁱ	Q86VQ0
ProteomicsDBⁱ	70054

PTM databases

iPTMnetⁱ	Q86VQ0
PhosphoSitePlusⁱ	Q86VQ0

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000135338 Expressed in 165 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_LCA5
ExpressionAtlasⁱ	Q86VQ0 baseline and differential
Genevisibleⁱ	Q86VQ0 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA029053 HPA029055

HPAⁱ

HPA029053
HPA029055

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
RCOR3	Q9P2K3	3	EBI-6658186,EBI-743428
SSNA1	O43805	2	EBI-6658186,EBI-2515299
TFIP11	Q9UBB9	3	EBI-6658186,EBI-1105213
TXLNA	P40222	3	EBI-6658186,EBI-359793

Protein-protein interaction databases

BioGridⁱ	127950, 117 interactors
IntActⁱ	Q86VQ0, 117 interactors
STRINGⁱ	9606.ENSP00000358861

Structureⁱ

3D structure databases

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

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 coil

Phylogenomic databases

eggNOGⁱ	ENOG410IKE1 Eukaryota ENOG4111R6E LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00560000077266
HOGENOMⁱ	HOG000113290
HOVERGENⁱ	HBG074315
InParanoidⁱ	Q86VQ0
OMAⁱ	RKNAACQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G03XN
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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF15619 Lebercilin, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

Q86VQ0-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	S4R3K6	S4R3K6_HUMAN		Lebercilin Lebercilin	LCA5	430	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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:rs35338066Ensembl.	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
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
UniGeneⁱ	Hs.21945

Genome annotation databases

Ensemblⁱ	ENST00000369846; ENSP00000358861; ENSG00000135338 ENST00000392959; ENSP00000376686; ENSG00000135338
GeneIDⁱ	167691
KEGGⁱ	hsa:167691
UCSC genome browser More...UCSCⁱ	uc003pix.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q86VQ0	Lebercilin (Fragment)		HUMAN		32	UniRef100_Q86VQ0

Protein	Similar proteins		Species	Score	Length	Source
Q86VQ0	Lebercilin (Fragment)		HUMAN		32	UniRef90_Q86VQ0
Uncharacterized protein		AOTNA		703
LCA5 isoform 2		PANTR		697
Lebercilin		MACMU		697
Uncharacterized protein		MACFA		697
+15

Protein	Similar proteins		Species	Score	Length	Source
Q86VQ0	Lebercilin		MOUSE		704	UniRef50_Q86VQ0
Lebercilin		RAT		727
Lebercilin (Fragment)		HUMAN		32
Uncharacterized protein		AOTNA		703
Uncharacterized protein		CHLSB		697
+80

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
UniGeneⁱ	Hs.21945

3D structure databases

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

Protein-protein interaction databases

BioGridⁱ	127950, 117 interactors
IntActⁱ	Q86VQ0, 117 interactors
STRINGⁱ	9606.ENSP00000358861

PTM databases

iPTMnetⁱ	Q86VQ0
PhosphoSitePlusⁱ	Q86VQ0

Polymorphism and mutation databases

BioMutaⁱ	LCA5
DMDMⁱ	71658798

Proteomic databases

EPDⁱ	Q86VQ0
MaxQBⁱ	Q86VQ0
PaxDbⁱ	Q86VQ0
PeptideAtlasⁱ	Q86VQ0
PRIDEⁱ	Q86VQ0
ProteomicsDBⁱ	70054

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	167691
Structural Biology Knowledgebase	Search...

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
GeneReviewsⁱ	LCA5
H-InvDBⁱ	HIX0006025
HGNCⁱ	HGNC:31923 LCA5
HPAⁱ	HPA029053 HPA029055
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IKE1 Eukaryota ENOG4111R6E LUCA
GeneTreeⁱ	ENSGT00560000077266
HOGENOMⁱ	HOG000113290
HOVERGENⁱ	HBG074315
InParanoidⁱ	Q86VQ0
OMAⁱ	RKNAACQ
OrthoDBⁱ	EOG091G03XN
PhylomeDBⁱ	Q86VQ0
TreeFamⁱ	TF323306

Miscellaneous databases

GeneWikiⁱ	LCA5
GenomeRNAiⁱ	167691
Protein Ontology More...PROⁱ	PR:Q86VQ0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000135338 Expressed in 165 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_LCA5
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...

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:	November 7, 2018
	This is version 129 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM

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Supporting data

UniProtKB - Q86VQ0 (LCA5_HUMAN)

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Lebercilin

Select a section on the left to see content.

<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

<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>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

Organism-specific databases

<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

Cytoskeleton

Cytoskeleton

Other locations

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<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

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ