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Aliases for LRIT1 Gene

Aliases for LRIT1 Gene

  • Leucine Rich Repeat, Ig-Like And Transmembrane Domains 1 2 3 5
  • Fibronectin Type III, Immunoglobulin And Leucine Rich Repeat Domains 9 2 3
  • Photoreceptor-Associated LRR Superfamily Protein 3 4
  • Leucine-Rich Repeat-Containing Protein 21 3 4
  • Leucine Rich Repeat Containing 21 2 3
  • Retina-Specific Protein PAL 3 4
  • LRRC21 3 4
  • PAL 3 4
  • Leucine-Rich Repeat, Immunoglobulin-Like Domain And Transmembrane Domain-Containing Protein 1 3
  • Leucine-Rich Repeat, Immunoglobulin-Like And Transmembrane Domains 1 3
  • FIGLER9 3

External Ids for LRIT1 Gene

Previous HGNC Symbols for LRIT1 Gene

  • LRRC21

Previous GeneCards Identifiers for LRIT1 Gene

  • GC10M085982
  • GC10M079836

Summaries for LRIT1 Gene

GeneCards Summary for LRIT1 Gene

LRIT1 (Leucine Rich Repeat, Ig-Like And Transmembrane Domains 1) is a Protein Coding gene. An important paralog of this gene is LRIT3.

UniProtKB/Swiss-Prot for LRIT1 Gene

  • Possible role in phototransduction.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRIT1 Gene

Genomics for LRIT1 Gene

Regulatory Elements for LRIT1 Gene

Enhancers for LRIT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G084214 0.6 ENCODE 22.4 +31.7 31744 0.1 CTCF NR2F1 CEBPB RAD21 JUND FOXK2 SMC3 NR2F6 PRDM10 TCF7L2 LRIT1 GHITM CDHR1 PIR57101 LRIT2
GH10G084205 0.7 ENCODE 11.5 +40.7 40714 0.2 HDGF CTCF ZNF654 ZNF146 STAT1 ZSCAN4 WRNIP1 TRIM22 REST RAD21 LRIT1 GHITM PIR57101 CDHR1
GH10G084269 0.5 ENCODE 12 -23.5 -23487 0.3 JUND BHLHE40 FOS CEBPG RGR LRIT1 LRIT2 LINC00858 GC10P084248 GC10P084249
GH10G084159 0.5 dbSUPER 10.5 +87.2 87164 0.6 KLF1 ZNF398 FEZF1 ZBTB8A CDHR1 LRIT2 LRIT1 RNU1-65P C10orf99 CERNA2 ENSG00000271933
GH10G084161 0.4 ENCODE 10.5 +85.3 85334 0.2 TEAD4 CDHR1 LRIT2 LRIT1 CERNA2 ENSG00000271933
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRIT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRIT1 Gene

Chromosome:
10
Start:
84,231,520 bp from pter
End:
84,246,493 bp from pter
Size:
14,974 bases
Orientation:
Minus strand

Genomic View for LRIT1 Gene

Genes around LRIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRIT1 Gene

Proteins for LRIT1 Gene

  • Protein details for LRIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2V4-LRIT1_HUMAN
    Recommended name:
    Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1
    Protein Accession:
    Q9P2V4
    Secondary Accessions:
    • Q0QD41
    • Q9Y4N7

    Protein attributes for LRIT1 Gene

    Size:
    623 amino acids
    Molecular mass:
    68041 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for LRIT1 Gene

Post-translational modifications for LRIT1 Gene

  • Glycosylation at posLast=156156, Asn296, and Asn455
  • Modification sites at PhosphoSitePlus

Other Protein References for LRIT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRIT1 Gene

Domains & Families for LRIT1 Gene

No data available for UniProtKB/Swiss-Prot for LRIT1 Gene

Function for LRIT1 Gene

Molecular function for LRIT1 Gene

UniProtKB/Swiss-Prot Function:
Possible role in phototransduction.

Gene Ontology (GO) - Molecular Function for LRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with LRIT1: view
genes like me logo Genes that share phenotypes with LRIT1: view

Animal Model Products

CRISPR Products

miRNA for LRIT1 Gene

miRTarBase miRNAs that target LRIT1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRIT1 Gene

Localization for LRIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRIT1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRIT1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane ISS --
genes like me logo Genes that share ontologies with LRIT1: view

Pathways & Interactions for LRIT1 Gene

SuperPathways for LRIT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with LRIT1: view

No data available for Pathways by source and SIGNOR curated interactions for LRIT1 Gene

Drugs & Compounds for LRIT1 Gene

No Compound Related Data Available

Transcripts for LRIT1 Gene

mRNA/cDNA for LRIT1 Gene

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

Unigene Clusters for LRIT1 Gene

Leucine-rich repeat, immunoglobulin-like and transmembrane domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRIT1 Gene

No ASD Table

Relevant External Links for LRIT1 Gene

GeneLoc Exon Structure for
LRIT1
ECgene alternative splicing isoforms for
LRIT1

Expression for LRIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRIT1 Gene

This gene is overexpressed in Testis (x49.3).

Protein differential expression in normal tissues from HIPED for LRIT1 Gene

This gene is overexpressed in Vitreous humor (50.3) and Retina (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRIT1 Gene



Protein tissue co-expression partners for LRIT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRIT1 Gene:

LRIT1

SOURCE GeneReport for Unigene cluster for LRIT1 Gene:

Hs.226000

Evidence on tissue expression from TISSUES for LRIT1 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with LRIT1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRIT1 Gene

Orthologs for LRIT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRIT1 35 34
  • 98.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRIT1 35 34
  • 82.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrit1 16 35 34
  • 79.35 (n)
rat
(Rattus norvegicus)
Mammalia Lrit1 34
  • 79.24 (n)
dog
(Canis familiaris)
Mammalia LRIT1 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRIT1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRIT1 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRIT1 34 35
  • 63.64 (n)
lizard
(Anolis carolinensis)
Reptilia LRIT1 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrit1 34
  • 57.27 (n)
zebrafish
(Danio rerio)
Actinopterygii lrit1b 34 35
  • 58.7 (n)
lrit1a 35
  • 47 (a)
OneToMany
Species where no ortholog for LRIT1 was found in the sources mined by GeneCards:
  • 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 LRIT1 Gene

ENSEMBL:
Gene Tree for LRIT1 (if available)
TreeFam:
Gene Tree for LRIT1 (if available)

Paralogs for LRIT1 Gene

Paralogs for LRIT1 Gene

(1) SIMAP similar genes for LRIT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LRIT1: view

Variants for LRIT1 Gene

Sequence variations from dbSNP and Humsavar for LRIT1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000420650 -- 84,240,748(+) CTGGC(G/T)TTTGG intron-variant
rs1000455378 -- 84,242,223(+) AACTG(C/G)ACAGA upstream-variant-2KB
rs1000538967 -- 84,231,123(+) GCCTA(C/T)GAATT downstream-variant-500B
rs1000743999 -- 84,236,140(+) ATATA(C/T)AAAAA intron-variant
rs1000756693 -- 84,241,753(+) AGAGG(C/T)GAGCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LRIT1 Gene

Variant ID Type Subtype PubMed ID
nsv1046749 CNV gain 25217958
nsv1141879 OTHER inversion 24896259
nsv551745 CNV gain 21841781

Variation tolerance for LRIT1 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRIT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRIT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRIT1 Gene

Disorders for LRIT1 Gene

Relevant External Links for LRIT1

Genetic Association Database (GAD)
LRIT1
Human Genome Epidemiology (HuGE) Navigator
LRIT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRIT1

No disorders were found for LRIT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRIT1 Gene

Publications for LRIT1 Gene

  1. Molecular cloning of a novel membrane glycoprotein, Pal, specifically expressed in photoreceptor cells of the retina and containing leucine- rich repeat. (PMID: 10777785) Gomi F. … Tohyama M. (J. Neurosci. 2000) 2 3 4 64
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  3. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V. … Wissinger B. (BMC Genomics 2007) 3 4 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3 64

Products for LRIT1 Gene

Sources for LRIT1 Gene

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