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FLASH GENE

Symbol

LRIT3

contributors: mct - updated : 13-02-2014

HGNC name	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
HGNC id	24783

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CSNB1F blindness night congenital stationary 1F
Location	4q25      Physical location : 110.772.485 - 110.793.470
Synonym name	fibronectin type III, immunoglobulin and leucine rich repeat domains 4
Synonym symbol(s)	CSNB1F, FIGLER4

DNA

TYPE	functioning gene
STRUCTURE	24.11 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed "NM_198506 4 - 3583 NP_940908 - 679 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina       Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual outer nuclear layer   Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Visual rod photoreceptor Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide (AAs 1–19) and four LRR domains (AAs 82–104, 106–128, 130–152, and 154–176)
	flanked by cysteine-rich LLRNT (AAs 20–61)
	LRRCT (AAs 201–253) motif
	an immunoglobulin-like (Ig-like) domain (AAs 254–344)
	a fibronectin type III (FNIII) domain (AAs 484–574)
	and a transmembrane (TM) domain (AAs 583–633)
	C-terminal region is highly conserved and might harbor a PDZ-binding motif

HOMOLOGY

Homologene

FAMILY

LRR protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

potentially important in synapse formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	is a regulator of the FGFR1
	LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB1F

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS