LRIT3
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
Also known as: CSNB1F, FIGLER4, FLJ44691, LRIT3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q3SXY7
- Gene
- LRIT3
- Ensembl
- ENSG00000183423
- Chromosome
- 4
- Canonical length
- 679 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Mitochondria,Cytosol
OverviewNCBI Gene
This gene encodes 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. [provided by RefSeq, May 2013]
Canonical amino-acid sequenceUniProt
679 residues, UniProt reviewed canonical sequence.
>Q3SXY7|LRIT3
1 MHLFACLCIV LSFLEGVGCL CPSQCTCDYH GRNDGSGSRL VLCNDMDMNE LPTNLPVDTV
61 KLRIEKTVIR RISAEAFYYL VELQYLWVTY NSVASIDPSS FYNLKQLHEL RLDGNSLAAF
121 PWASLLDMPL LRTLDLHNNK ITSVPNEALR YLKNLAYLDL SSNRLTTLPP DFLESWTHLV
181 STPSGVLDLS PSRIILGLQD NPWFCDCHIS KMIELSKVVD PAIVLLDPLM TCSEPERLTG
241 ILFQRAELEH CLKPSVMTSA TKIMSALGSN VLLRCDATGF PTPQITWTRS DSSPVNYTVI
301 QESPEEGVRW SIMSLTGISS KDAGDYKCKA KNLAGMSEAV VTVTVLGITT TPIPPDTSER
361 TGDHPEWDVQ PGSGRSTSVS SASSYLWSSS FSPTSSFSAS TLSPPSTASF SLSPFSSSTV
421 SSTTTLSTSI SASTTMANKR SFQLHQGGKR NLKVAKNGSK LPPASTSKKE ELALLDQTML
481 TETNAAIENL RVVSETKESV TLTWNMINTT HNSAVTVLYS KYGGKDLLLL NADSSKNQVT
541 IDGLEPGGQY MACVCPKGVP PQKDQCITFS TERVEGDDSQ WSLLLVVTST ACVVILPLIC
601 FLLYKVCKLQ CKSEPFWEDD LAKETYIQFE TLFPRSQSVG ELWTRSHRDD SEKLLLCSRS
661 SVESQVTFKS EGSRPEYYCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LRIT3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- retina: 16 nTPM
- kidney: 0.9 nTPM
- cerebellum: 0.8 nTPM
- cerebral cortex: 0.5 nTPM
- skin: 0.5 nTPM
- basal ganglia: 0.4 nTPM
Single-cell type
- müller glia: 18 nCPM
- retinal pigment epithelial cells: 17 nCPM
- cone photoreceptor cells: 8.3 nCPM
- rod photoreceptor cells: 7.5 nCPM
- ependymal cells: 4.5 nCPM
- loop of henle epithelial cells: 2.7 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 1.5 nTPM
- white matter: 1.2 nTPM
- amygdala: 0.9 nTPM
- basal ganglia: 0.9 nTPM
- hippocampal formation: 0.9 nTPM
- medulla oblongata: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LRIT3.
Disease | AllUniProt
Conditions LRIT3 is implicated in, by any mechanism.
- Night blindness, congenital stationary, 1F (CSNB1F) MIM:615058
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 461 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital stationary night blindness 1F
- Stargardt disease
- Retinal dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.42
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.31
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- gene expression
- intracellular protein localization
- regulation of fibroblast growth factor receptor signaling pathway
- response to light stimulus
- synapse assembly involved in innervation
- synaptic signaling
- visual perception
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Leucine-rich repeat
- Leucine-rich repeat, typical subtype
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Fibronectin type III
- Immunoglobulin-like domain
- Immunoglobulin-like fold
- Leucine-rich repeat domain superfamily
- Fibronectin type III superfamily
- Immunoglobulin-like domain superfamily
- Leucine-rich repeat and fibronectin type-III domain-containing
- Leucine rich repeat
- Immunoglobulin domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LRIT3 as an antibody target. Whether an autoantibody or antibody against LRIT3 could matter depends on whether native LRIT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LRIT3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LRIT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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