Human Gene LRR1 (ENST00000298288.11_4) from GENCODE V47lift37
  Description: leucine rich repeat protein 1, transcript variant 1 (from RefSeq NM_152329.4)
Gencode Transcript: ENST00000298288.11_4
Gencode Gene: ENSG00000165501.17_8
Transcript (Including UTRs)
   Position: hg19 chr14:50,065,658-50,081,390 Size: 15,733 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr14:50,065,739-50,081,214 Size: 15,476 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:50,065,658-50,081,390)mRNA (may differ from genome)Protein (414 aa)
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HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LLR1_HUMAN
DESCRIPTION: RecName: Full=Leucine-rich repeat protein 1; AltName: Full=4-1BB-mediated-signaling molecule; AltName: Full=4-1BBlrr; AltName: Full=LRR-repeat protein 1; Short=LRR-1; AltName: Full=Peptidylprolyl isomerase-like 5;
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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: 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.
TISSUE SPECIFICITY: Ubiquitous. Maximal expression was seen in the heart and skeletal muscle and minimal expression seen in the kidney.
SIMILARITY: Contains 7 LRR (leucine-rich) repeats.
SEQUENCE CAUTION: Sequence=CAD62625.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.66 RPKM in Testis
Total median expression: 144.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.0081-0.407 Picture PostScript Text
3' UTR -35.80176-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies

Pfam Domains:
PF12799 - Leucine Rich repeats (2 copies)
PF13516 - Leucine Rich repeat
PF13855 - Leucine rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1

ModBase Predicted Comparative 3D Structure on Q96L50
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005225 volume-sensitive anion channel activity

Biological Process:
GO:0007165 signal transduction
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification
GO:0098656 anion transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0034702 ion channel complex


-  Descriptions from all associated GenBank mRNAs
  BC030142 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone IMAGE:4764756), complete cds.
BX648029 - Homo sapiens mRNA; cDNA DKFZp686J1525 (from clone DKFZp686J1525).
BC064133 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone IMAGE:6501107), complete cds.
BC107888 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone IMAGE:6653458), complete cds.
BX248298 - human full-length cDNA clone CS0DK007YE23 of HeLa cells of Homo sapiens (human).
BC139921 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone MGC:164995 IMAGE:40148567), complete cds.
AK293156 - Homo sapiens cDNA FLJ54648 complete cds, highly similar to Peptidylprolyl isomerase-like 5.
BC093697 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone IMAGE:7939542), complete cds.
BC112241 - Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 5, mRNA (cDNA clone IMAGE:8327709), complete cds.
GQ891418 - Homo sapiens clone HEL-S-139 epididymis secretory sperm binding protein mRNA, complete cds.
AY052405 - Homo sapiens 4-1BB-mediated signaling molecule mRNA, complete cds.
DQ895470 - Synthetic construct Homo sapiens clone IMAGE:100009930; FLH184731.01L; RZPDo839B04145D peptidylprolyl isomerase (cyclophilin)-like 5 (PPIL5) gene, encodes complete protein.
DQ892269 - Synthetic construct clone IMAGE:100004899; FLH184735.01X; RZPDo839B04146D peptidylprolyl isomerase (cyclophilin)-like 5 (PPIL5) gene, encodes complete protein.
KJ906412 - Synthetic construct Homo sapiens clone ccsbBroadEn_16082 LRR1 gene, encodes complete protein.
AB464006 - Synthetic construct DNA, clone: pF1KB7393, Homo sapiens PPIL5 gene for peptidylprolyl isomerase (cyclophilin)-like 5, without stop codon, in Flexi system.
BC146425 - Synthetic construct Homo sapiens clone IMAGE:100015127, MGC:180214 peptidylprolyl isomerase (cyclophilin)-like 5 (PPIL5) mRNA, encodes complete protein.
BC148859 - Synthetic construct Homo sapiens clone IMAGE:100015875, MGC:183201 peptidylprolyl isomerase (cyclophilin)-like 5 (PPIL5) mRNA, encodes complete protein.
JD290261 - Sequence 271285 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96L50 (Reactome details) participates in the following event(s):

R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-8951664 Neddylation
R-HSA-1280218 Adaptive Immune System
R-HSA-597592 Post-translational protein modification
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A5D6X3, B4DDE0, ENST00000298288.1, ENST00000298288.10, ENST00000298288.2, ENST00000298288.3, ENST00000298288.4, ENST00000298288.5, ENST00000298288.6, ENST00000298288.7, ENST00000298288.8, ENST00000298288.9, LLR1_HUMAN, LRR1 , NM_152329, PPIL5, Q52M24, Q86SZ1, Q8N6H9, Q96L50, uc317mdv.1, uc317mdv.2
UCSC ID: ENST00000298288.11_4
RefSeq Accession: NM_152329.4
Protein: Q96L50 (aka LLR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.