Gene

lca5

ID

ZDB-GENE-090313-268

Name

lebercilin LCA5

Symbol

lca5 Nomenclature History

Previous Names

si:dkey-241o6.2

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Involved in photoreceptor cell maintenance and photoreceptor cell outer segment organization. Predicted to be active in axoneme. Used to study Leber congenital amaurosis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 5. Orthologous to human LCA5 (lebercilin LCA5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 10 figures from Qu et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
hzu7	Allele with one deletion	Exon 2	Unknown	CRISPR	China Zebrafish Resource Center (CZRC) (order this)
sa1415	Allele with one point mutation	Unknown	Missense, Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this)
sa6746	Allele with one point mutation	Unknown	Premature Stop	ENU
sa9927	Allele with one point mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa10874	Allele with one point mutation	Unknown	Missense, Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa11604	Allele with one point mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa37754	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa37755	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
zf3156	Allele with one deletion	Exon 2	Premature Stop	CRISPR

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Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Citations
CRISPR1-lca5	hzu7	Zebrafish Nomenclature Committee
CRISPR2-lca5	zf3156	Qu et al., 2019

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Human Disease

Associated With lca5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Leber congenital amaurosis 5	Alliance	Leber congenital amaurosis 5	604537

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Associated With lca5 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Leber congenital amaurosis	lca5^{zf3156/zf3156}	standard conditions	Qu et al., 2019

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Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR028933	Lebercilin domain
Family	IPR026188	Lebercilin-like

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Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9PLA8	InterPro	755
UniProtKB:A0A8M9P5L0	InterPro	766
UniProtKB:A0A8M3AVL5	InterPro	754
UniProtKB:E9QG33	InterPro	754
UniProtKB:A0A8M9PTN2	InterPro	753

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 23

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	lca5-201 (1) Ensembl	Ensembl		2,220 nt	Select Tool ZFIN BLAST
mRNA	lca5-202 (1) Ensembl	Ensembl		2,690 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	DKEY-241O6	CR735144	ZFIN Curated Data
Contained in	BAC	DKEYP-79F12	CR759830	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_068219070 (1)	2816 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	RefSeq:NW_018395159 (1)		Select Tool MegaBLAST
Polypeptide	UniProtKB:A0A8M6YVF9 (1)	767 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	LCA5	6	Ensembl:ENSG00000135338 Gene:167691 HGNC:31923 OMIM:611408	Conserved genome location (synteny) (1) Amino acid sequence comparison (2)
Mouse	Lca5	9	Ensembl:ENSMUSG00000032258 Gene:75782 MGI:1923032	Conserved genome location (synteny) (1) Amino acid sequence comparison (2)

Citations

Include unpublished citations

Qu, Z., Yimer, T.A., Xie, S., Wong, F., Yu, S., Liu, X., Han, S., Ma, J., Lu, Z., Hu, X., Qin, Y., Huang, Y., Lv, Y., Li, J., Tang, Z., Liu, F., Liu, M. (2019) Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. Biochimica et biophysica acta. Molecular basis of disease. 1865(10):2694-2705

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