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Aliases for LRR1 Gene

Aliases for LRR1 Gene

  • Leucine Rich Repeat Protein 1 2 3 5
  • LRR-Repeat Protein 1 2 3 4
  • Peptidylprolyl Isomerase (Cyclophilin)-Like 5 2 3
  • Peptidylprolyl Isomerase-Like 5 3 4
  • 4-1BBLRR 3 4
  • PPIL5 3 4
  • LRR-1 3 4
  • 4-1BB-Mediated Signaling Molecule 3
  • 4-1BB-Mediated-Signaling Molecule 4
  • Leucine-Rich Repeat Protein 1 3
  • Cyclophilin-Like 5 3

External Ids for LRR1 Gene

Previous HGNC Symbols for LRR1 Gene

  • PPIL5

Previous GeneCards Identifiers for LRR1 Gene

  • GC14P050067

Summaries for LRR1 Gene

Entrez Gene Summary for LRR1 Gene

  • The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

GeneCards Summary for LRR1 Gene

LRR1 (Leucine Rich Repeat Protein 1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include isomerase activity.

UniProtKB/Swiss-Prot for LRR1 Gene

  • May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Additional gene information for LRR1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRR1 Gene

Genomics for LRR1 Gene

GeneHancer (GH) Regulatory Elements for LRR1 Gene

Promoters and enhancers for LRR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I049594 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 591.1 -1.2 -1177 7.8 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 LRR1 RPS29 RPL36AL VCPKMT RHOQP1 MGAT2 POLE2 ENSG00000278009 ENSG00000252919
GH14I049618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.2 +23.5 23488 6.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 RPL36AL MGAT2 ENSG00000258377 LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF
GH14I049583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.3 -12.9 -12890 4 HDGF CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 ENSG00000283029 GC14M049587 GC14P049610 PIR42644 RN7SL1 GC14M049586 RPS29 RPL36AL LRR1 KLHDC1
GH14I049891 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.7 +297.1 297063 8.9 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ARF6 LRR1 VCPKMT RHOQP1 POLE2 ENSG00000270062 RPL36AL ENSG00000282885 RNU6-189P
GH14I050115 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 +517.9 517863 2.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 VCPKMT RHOQP1 LRR1 ENSG00000270062 ATP5S LINC01588 LINC01599 SOS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LRR1 Gene

Genomic Locations for LRR1 Gene
chr14:49,598,697-49,614,672
(GRCh38/hg38)
Size:
15,976 bases
Orientation:
Plus strand
chr14:50,065,415-50,081,390
(GRCh37/hg19)

Genomic View for LRR1 Gene

Genes around LRR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRR1 Gene

Proteins for LRR1 Gene

  • Protein details for LRR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L50-LLR1_HUMAN
    Recommended name:
    Leucine-rich repeat protein 1
    Protein Accession:
    Q96L50
    Secondary Accessions:
    • A5D6X3
    • B4DDE0
    • Q52M24
    • Q86SZ1
    • Q8N6H9

    Protein attributes for LRR1 Gene

    Size:
    414 amino acids
    Molecular mass:
    46723 Da
    Quaternary structure:
    • Interacts with the cytoplasmic domain of TNFRSF9. Component of the probable ECS(LRR1) E3 ubiquitin-protein ligase complex which contains CUL2, RBX1, Elongin BC complex and LRR1. Interacts with CUL2, RBX1, ELOB and ELOC.
    SequenceCaution:
    • Sequence=CAD62625.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for LRR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRR1 Gene

Post-translational modifications for LRR1 Gene

  • Ubiquitination at isoforms=272 and isoforms=255

Other Protein References for LRR1 Gene

No data available for DME Specific Peptides for LRR1 Gene

Domains & Families for LRR1 Gene

Gene Families for LRR1 Gene

Protein Domains for LRR1 Gene

Suggested Antigen Peptide Sequences for LRR1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LRR1: view

No data available for UniProtKB/Swiss-Prot for LRR1 Gene

Function for LRR1 Gene

Molecular function for LRR1 Gene

UniProtKB/Swiss-Prot Function:
May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Ontology (GO) - Molecular Function for LRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 NOT volume-sensitive anion channel activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with LRR1: view
genes like me logo Genes that share phenotypes with LRR1: view

Animal Model Products

miRNA for LRR1 Gene

miRTarBase miRNAs that target LRR1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRR1 Gene

Localization for LRR1 Gene

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 LRR1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
GO:0034702 NOT ion channel complex IBA --
genes like me logo Genes that share ontologies with LRR1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRR1 Gene

Pathways & Interactions for LRR1 Gene

genes like me logo Genes that share pathways with LRR1: view

UniProtKB/Swiss-Prot Q96L50-LLR1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for LRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
GO:0098656 NOT anion transmembrane transport IBA --
genes like me logo Genes that share ontologies with LRR1: view

No data available for SIGNOR curated interactions for LRR1 Gene

Drugs & Compounds for LRR1 Gene

No Compound Related Data Available

Transcripts for LRR1 Gene

Unigene Clusters for LRR1 Gene

Leucine rich repeat protein 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: -
SP3: - -
SP4: - - -
SP5: - - - -

Relevant External Links for LRR1 Gene

GeneLoc Exon Structure for
LRR1
ECgene alternative splicing isoforms for
LRR1

Expression for LRR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRR1 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for LRR1 Gene

This gene is overexpressed in Lymph node (22.9), Prostate (20.8), and Cardia (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LRR1 Gene:

LRR1

SOURCE GeneReport for Unigene cluster for LRR1 Gene:

Hs.451090

mRNA Expression by UniProt/SwissProt for LRR1 Gene:

Q96L50-LLR1_HUMAN
Tissue specificity: Ubiquitous. Maximal expression was seen in the heart and skeletal muscle and minimal expression seen in the kidney.

Evidence on tissue expression from TISSUES for LRR1 Gene

  • Heart(4.3)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with LRR1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRR1 Gene

Orthologs for LRR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRR1 33 34
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia LRR1 33
  • 90.18 (n)
PPIL5 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRR1 33 34
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Lrr1 33
  • 83.09 (n)
mouse
(Mus musculus)
Mammalia Lrr1 33 16 34
  • 82.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRR1 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRR1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRR1 33 34
  • 68.73 (n)
lizard
(Anolis carolinensis)
Reptilia LRR1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrr1 33
  • 64.76 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77287 33
  • 53.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003591 33
  • 43.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lrr47 33 34
  • 42.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2912 34
  • 39 (a)
OneToOne
Species where no ortholog for LRR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 LRR1 Gene

ENSEMBL:
Gene Tree for LRR1 (if available)
TreeFam:
Gene Tree for LRR1 (if available)

Paralogs for LRR1 Gene

(2) SIMAP similar genes for LRR1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for LRR1 Gene

genes like me logo Genes that share paralogs with LRR1: view

No data available for Paralogs for LRR1 Gene

Variants for LRR1 Gene

Sequence variations from dbSNP and Humsavar for LRR1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000022014 -- 49,604,974(+) C/T intron_variant
rs1000132013 -- 49,611,583(+) T/C intron_variant
rs1000455421 -- 49,597,152(+) G/A upstream_transcript_variant
rs1000613711 -- 49,601,449(+) T/C intron_variant
rs1000892549 -- 49,605,288(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LRR1 Gene

Variant ID Type Subtype PubMed ID
nsv977465 CNV duplication 23825009
esv28926 CNV gain+loss 19812545

Variation tolerance for LRR1 Gene

Residual Variation Intolerance Score: 64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.75; 94.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRR1 Gene

Disorders for LRR1 Gene

Additional Disease Information for LRR1

No disorders were found for LRR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRR1 Gene

Publications for LRR1 Gene

  1. A novel leucine-rich repeat protein (LRR-1): potential involvement in 4-1BB-mediated signal transduction. (PMID: 11804328) Jang LK … Kwon BS (Molecules and cells 2001) 2 3 4 58
  2. CRL2(LRR-1) targets a CDK inhibitor for cell cycle control in C. elegans and actin-based motility regulation in human cells. (PMID: 21074724) Starostina NG … Kipreos ET (Developmental cell 2010) 2 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. VHL-box and SOCS-box domains determine binding specificity for Cul2-Rbx1 and Cul5-Rbx2 modules of ubiquitin ligases. (PMID: 15601820) Kamura T … Nakayama KI (Genes & development 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for LRR1 Gene

Sources for LRR1 Gene

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