LCA5
entrez
167691
canonical
uniprot
Q86VQ0
canonical
ensembl
ENSG00000135338
resolver
ensp
ENSP00000358861
resolver
ensp
ENSP00000376686
resolver
ensp
ENSP00000529418
resolver
ensp
ENSP00000589453
resolver
ensp
ENSP00000621506
resolver
enst
ENST00000369846
resolver
enst
ENST00000392959
resolver
enst
ENST00000859359
resolver
enst
ENST00000919394
resolver
enst
ENST00000951447
resolver
genesymbol
LCA5
resolver
genesymbol_syn
C6orf152
resolver
hgnc
HGNC:31923
resolver
uniprot
A0A384MDJ7
resolver
uniprot
E1P542
resolver
uniprot
Q9BWX7
resolver
uniprot_entry
A0A384MDJ7_HUMAN
resolver
uniprot_entry
LCA5_HUMAN
resolver
uniprot_sec
E1P542
resolver
uniprot_sec
Q9BWX7
resolver
amino_acid_sequence
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 5 (LCA5) [MIM:604537]: A 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. {ECO:0000269|PubMed:17546029, ECO:0000269|PubMed:18000884, ECO:0000269|PubMed:18334959, ECO:0000269|PubMed:28418496}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in intraflagellar protein (IFT) transport in photoreceptor cilia. Plays a role in the ciliary transport of photoreceptors outer segment proteins. {ECO:0000250|UniProtKB:E9QG33, ECO:0000250|UniProtKB:Q80ST9}.
uniprot
proteins
mass_dalton
80554
uniprot
proteins
protein_family
LCA5 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17546029
uniprot
proteins
pubmed
18000884
uniprot
proteins
pubmed
18334959
uniprot
proteins
pubmed
18826961
uniprot
proteins
pubmed
19800048
uniprot
proteins
pubmed
21606596
uniprot
proteins
pubmed
22940612
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28418496
uniprot
proteins
sequence_length
697
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17546029}. Cell projection, cilium {ECO:0000269|PubMed:21606596}. 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). {ECO:0000269|PubMed:17546029, ECO:0000269|PubMed:21606596}.
uniprot
proteins