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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 Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include isomerase activity. An important paralog of this gene is LRRC58.

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.

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

Genomics for LRR1 Gene

Regulatory Elements for LRR1 Gene

Enhancers for LRR1 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
GH14F049584 0.4 ENCODE 33.3 -12.9 -12891 4.0 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF207 ZNF143 RPL36AL LRR1 POLE2 VCPKMT RHOQP1 RPS29 GC14M049586 GC14M049587 RPL32P29
GH14F049593 0.8 Ensembl ENCODE 32.6 -1.2 -1177 7.8 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 RPL36AL LRR1 KLHDC2 MAP4K5 MGAT2 KLHDC1 POLE2 VCPKMT RHOQP1 ENSG00000252919
GH14F049594 0.4 ENCODE 28.4 -5.5 -5500 0.2 ZFHX2 FOS PRDM10 ZIC2 MAFK ZBTB17 LRR1 RPL36AL MGAT2 RHOQP1 ENSG00000252919
GH14F049616 0.5 ENCODE 27.5 +19.0 18990 2.0 HDGF PKNOX1 ASH2L BMI1 THRB ZNF121 ZFHX2 POLR2A EED SCRT2 RPL36AL LRR1 RHOQP1 RPL36AP42 ENSG00000278009
GH14F049553 0.5 ENCODE 26.5 -44.6 -44601 0.5 CBX5 TRIM28 RPL36AL LRR1 RNA5SP384 GC14M049578
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LRR1 on UCSC Golden Path with GeneCards custom track

Promoters for LRR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001456974 503 4000 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for LRR1 Gene

Chromosome:
14
Start:
49,598,697 bp from pter
End:
49,614,672 bp from pter
Size:
15,976 bases
Orientation:
Plus strand

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, TCEB1 and TCEB2.
    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 Lys 72 and Lys 255
  • Modification sites at PhosphoSitePlus

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

Q96L50

UniProtKB/Swiss-Prot:

LLR1_HUMAN :
  • Contains 7 LRR (leucine-rich) repeats.
Similarity:
  • Contains 7 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRR1: view

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: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

Flow Cytometry Products

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

Localization for LRR1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRR1 Gene COMPARTMENTS Subcellular localization image for LRR1 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with LRR1: view

No data available for SIGNOR curated interactions for LRR1 Gene

Transcripts for LRR1 Gene

Unigene Clusters for LRR1 Gene

Leucine rich repeat protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with LRR1: view

Primer Products

No data available for Protein tissue co-expression partners 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 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia LRR1 34
  • 90.18 (n)
PPIL5 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRR1 34 35
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Lrr1 34
  • 83.09 (n)
mouse
(Mus musculus)
Mammalia Lrr1 34 16 35
  • 82.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRR1 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRR1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRR1 34 35
  • 68.73 (n)
lizard
(Anolis carolinensis)
Reptilia LRR1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrr1 34
  • 64.76 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77287 34
  • 53.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003591 34
  • 43.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lrr47 34 35
  • 42.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2912 35
  • 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

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

Variants for LRR1 Gene

Sequence variations from dbSNP and Humsavar for LRR1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10150146 -- 49,612,533(+) TTTTT(A/T)AAAAA intron-variant, nc-transcript-variant
rs10601239 -- 49,603,548(+) ttttt(G/T)gagat intron-variant
rs111254895 -- 49,598,897(+) GCGGA(C/T)CAGTC nc-transcript-variant, utr-variant-5-prime
rs111396005 -- 49,600,274(+) TCCAG(C/T)CTCAT intron-variant, upstream-variant-2KB
rs111417769 -- 49,605,052(+) CACCA(C/T)ACCAG intron-variant

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

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

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)

Relevant External Links 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

Relevant External Links for LRR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 I.-K. … Kwon B.S. (Mol. Cells 2001) 2 3 4 64
  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 N.G. … Kipreos E.T. (Dev. Cell 2010) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 K.I. (Genes Dev. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for LRR1 Gene

Sources for LRR1 Gene

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