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Aliases for LRIT3 Gene

Aliases for LRIT3 Gene

  • Leucine-Rich Repeat, Ig-Like And Transmembrane Domains 3 2 3
  • Leucine-Rich Repeat, Immunoglobulin-Like And Transmembrane Domains 3 3 5
  • Fibronectin Type III, Immunoglobulin And Leucine Rich Repeat Domains 4 3
  • Immunoglobulin And Leucine Rich Repeat Domains 4 2
  • Fibronectin Type III 2
  • FIGLER4 3
  • CSNB1F 3

External Ids for LRIT3 Gene

Previous GeneCards Identifiers for LRIT3 Gene

  • GC04P110992
  • GC04P110772
  • GC04P106504

Summaries for LRIT3 Gene

Entrez Gene Summary for LRIT3 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]

GeneCards Summary for LRIT3 Gene

LRIT3 (Leucine-Rich Repeat, Ig-Like And Transmembrane Domains 3) is a Protein Coding gene. Diseases associated with LRIT3 include night blindness, congenital stationary , 1f, autosomal recessive and congenital stationary night blindness. An important paralog of this gene is ISLR.

UniProtKB/Swiss-Prot for LRIT3 Gene

  • Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi. Could be a regulator of the FGFRs.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRIT3 Gene

Genomics for LRIT3 Gene

Regulatory Elements for LRIT3 Gene

Genomic Location for LRIT3 Gene

Chromosome:
4
Start:
109,848,184 bp from pter
End:
109,872,315 bp from pter
Size:
24,132 bases
Orientation:
Plus strand

Genomic View for LRIT3 Gene

Genes around LRIT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRIT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRIT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRIT3 Gene

Proteins for LRIT3 Gene

  • Protein details for LRIT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SXY7-LRIT3_HUMAN
    Recommended name:
    Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
    Protein Accession:
    Q3SXY7
    Secondary Accessions:
    • C9J1C2
    • Q6ZTG1

    Protein attributes for LRIT3 Gene

    Size:
    679 amino acids
    Molecular mass:
    74754 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI04038.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for LRIT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRIT3 Gene

Proteomics data for LRIT3 Gene at MOPED

Post-translational modifications for LRIT3 Gene

Other Protein References for LRIT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRIT3 Gene

Domains & Families for LRIT3 Gene

Gene Families for LRIT3 Gene

Suggested Antigen Peptide Sequences for LRIT3 Gene

Graphical View of Domain Structure for InterPro Entry

Q3SXY7

UniProtKB/Swiss-Prot:

LRIT3_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Contains 5 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 1 Ig-like (immunoglobulin-like) domain.
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRIT3: view

Function for LRIT3 Gene

Molecular function for LRIT3 Gene

UniProtKB/Swiss-Prot Function:
Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi. Could be a regulator of the FGFRs.

Phenotypes for LRIT3 Gene

GenomeRNAi human phenotypes for LRIT3:
MGI mutant phenotypes for LRIT3:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with LRIT3: view

Human Phenotype Ontology for LRIT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LRIT3

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LRIT3 Gene

Localization for LRIT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRIT3 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRIT3 Gene COMPARTMENTS Subcellular localization image for LRIT3 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for LRIT3 Gene

Pathways & Interactions for LRIT3 Gene

SuperPathways for LRIT3 Gene

No Data Available

Interacting Proteins for LRIT3 Gene

Gene Ontology (GO) - Biological Process for LRIT3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LRIT3 Gene

Drugs & Compounds for LRIT3 Gene

No Compound Related Data Available

Transcripts for LRIT3 Gene

mRNA/cDNA for LRIT3 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LRIT3 Gene

Leucine-rich repeat, immunoglobulin-like and transmembrane domains 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRIT3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for LRIT3 Gene

GeneLoc Exon Structure for
LRIT3
ECgene alternative splicing isoforms for
LRIT3

Expression for LRIT3 Gene

mRNA expression in normal human tissues for LRIT3 Gene

Protein differential expression in normal tissues from HIPED for LRIT3 Gene

This gene is overexpressed in Serum (61.2) and Retina (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRIT3 Gene



SOURCE GeneReport for Unigene cluster for LRIT3 Gene Hs.308127

genes like me logo Genes that share expression patterns with LRIT3: view

Protein tissue co-expression partners for LRIT3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LRIT3 Gene

Orthologs for LRIT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRIT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRIT3 35
  • 99.66 (n)
  • 99.41 (a)
LRIT3 36
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRIT3 36
  • 72 (a)
OneToOne
LRIT3 35
  • 81.9 (n)
  • 76.75 (a)
dog
(Canis familiaris)
Mammalia LRIT3 35
  • 85.03 (n)
  • 80.27 (a)
LRIT3 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrit3 16
Lrit3 36
  • 68 (a)
OneToOne
Lrit3 35
  • 77.1 (n)
  • 72.11 (a)
oppossum
(Monodelphis domestica)
Mammalia LRIT3 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRIT3 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrit3 35
  • 77.43 (n)
  • 74.07 (a)
chicken
(Gallus gallus)
Aves LRIT3 35
  • 65.88 (n)
  • 62.82 (a)
LRIT3 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRIT3 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrit3 35
  • 67.71 (n)
  • 66.67 (a)
zebrafish
(Danio rerio)
Actinopterygii lrit3a 36
  • 46 (a)
OneToOne
lrit3a 35
  • 64.64 (n)
  • 64.93 (a)
Species with no ortholog for LRIT3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRIT3 Gene

ENSEMBL:
Gene Tree for LRIT3 (if available)
TreeFam:
Gene Tree for LRIT3 (if available)

Paralogs for LRIT3 Gene

Paralogs for LRIT3 Gene

(4) SIMAP similar genes for LRIT3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LRIT3: view

Variants for LRIT3 Gene

Sequence variations from dbSNP and Humsavar for LRIT3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs764205 - 109,869,755(-) TGACA(A/T)CCCAG reference, missense
rs2347131 - 109,870,205(+) ATGCC(A/C/G/T)CAATA reference, missense
rs2347132 - 109,870,257(+) ATTGA(C/T)GTGGA reference, missense
rs4698797 - 109,851,911(+) GGAGA(A/G)CTGGA reference, missense, utr-variant-5-prime
VAR_069133 -

Variation tolerance for LRIT3 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.61; 99.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRIT3 Gene

HapMap Linkage Disequilibrium report
LRIT3
Human Gene Mutation Database (HGMD)
LRIT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LRIT3 Gene

Disorders for LRIT3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LRIT3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1f, autosomal recessive
  • congenital stationary night blindness, type 1f
congenital stationary night blindness
  • congenital essential nyctalopia
night blindness
- elite association - COSMIC cancer census association via MalaCards
Search LRIT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRIT3_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRIT3

Genetic Association Database (GAD)
LRIT3
Human Genome Epidemiology (HuGE) Navigator
LRIT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRIT3
genes like me logo Genes that share disorders with LRIT3: view

No data available for Genatlas for LRIT3 Gene

Publications for LRIT3 Gene

  1. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. (PMID: 23246293) Zeitz C. … Audo I. (Am. J. Hum. Genet. 2013) 3 4 67
  2. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. (PMID: 22673519) Kim S.D. … Kim J. (FEBS Lett. 2012) 3
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for LRIT3 Gene

Sources for LRIT3 Gene

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