LRIT3
entrez
345193
canonical
uniprot
Q3SXY7
canonical
ensembl
ENSG00000183423
resolver
ensp
ENSP00000328222
resolver
ensp
ENSP00000469759
resolver
enst
ENST00000327908
resolver
genesymbol
LRIT3
resolver
hgnc
HGNC:24783
resolver
uniprot
A0A0A0MR64
resolver
uniprot
C9J1C2
resolver
uniprot
Q6ZTG1
resolver
uniprot_entry
A0A0A0MR64_HUMAN
resolver
uniprot_entry
LRIT3_HUMAN
resolver
uniprot_sec
C9J1C2
resolver
uniprot_sec
Q6ZTG1
resolver
amino_acid_sequence
MHLFACLCIVLSFLEGVGCLCPSQCTCDYHGRNDGSGSRLVLCNDMDMNELPTNLPVDTVKLRIEKTVIRRISAEAFYYLVELQYLWVTYNSVASIDPSSFYNLKQLHELRLDGNSLAAFPWASLLDMPLLRTLDLHNNKITSVPNEALRYLKNLAYLDLSSNRLTTLPPDFLESWTHLVSTPSGVLDLSPSRIILGLQDNPWFCDCHISKMIELSKVVDPAIVLLDPLMTCSEPERLTGILFQRAELEHCLKPSVMTSATKIMSALGSNVLLRCDATGFPTPQITWTRSDSSPVNYTVIQESPEEGVRWSIMSLTGISSKDAGDYKCKAKNLAGMSEAVVTVTVLGITTTPIPPDTSERTGDHPEWDVQPGSGRSTSVSSASSYLWSSSFSPTSSFSASTLSPPSTASFSLSPFSSSTVSSTTTLSTSISASTTMANKRSFQLHQGGKRNLKVAKNGSKLPPASTSKKEELALLDQTMLTETNAAIENLRVVSETKESVTLTWNMINTTHNSAVTVLYSKYGGKDLLLLNADSSKNQVTIDGLEPGGQYMACVCPKGVPPQKDQCITFSTERVEGDDSQWSLLLVVTSTACVVILPLICFLLYKVCKLQCKSEPFWEDDLAKETYIQFETLFPRSQSVGELWTRSHRDDSEKLLLCSRSSVESQVTFKSEGSRPEYYC
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:23246293, ECO:0000269|PubMed:27428514}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina (PubMed:28334377). Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519). {ECO:0000250|UniProtKB:W8DXL4, ECO:0000269|PubMed:22673519, ECO:0000269|PubMed:28334377}.
uniprot
proteins
mass_dalton
74754
uniprot
proteins
mutagenesis
MUTAGEN 53; /note="T->M: No effect on LRIT3 function."; /evidence="ECO:0000269|PubMed:22673519
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:22673519}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
22673519
uniprot
proteins
pubmed
23246293
uniprot
proteins
pubmed
27428514
uniprot
proteins
pubmed
28334377
uniprot
proteins
sequence_length
679
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000269|PubMed:23246293}. Perikaryon {ECO:0000250|UniProtKB:W8DXL4}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Punctate expression at dendrite tips. {ECO:0000269|PubMed:23246293}.
uniprot
proteins
transmembrane_region
TRANSMEM 583..603; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins