LRIT3

LRIT3 is a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F.

Full Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

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).

Biological Process

Regulation of fibroblast growth factor receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Response to stimulusIEA:UniProtKB-KW
Visual perceptionIEA:UniProtKB-KW

Cellular Location

Cell projection, dendrite
Perikaryon
Endoplasmic reticulum membrane
Punctate expression at dendrite tips.

Involvement in disease

Night blindness, congenital stationary, 1F (CSNB1F):
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.

Topology

Lumenal: 20-582
Helical: 583-603
Cytoplasmic: 604-679

PTM

Glycosylated.