Seroatlas · Human Serome Atlas

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 EGSRPEYYC

LocalizationUniProt · 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.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 461 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

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.

Canonical record: https://seroatlas.com/gene/LRIT3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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