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LRR1 (leucine rich repeat protein 1)

Identity

Alias_namesPPIL5
peptidylprolyl isomerase (cyclophilin)-like 5
Alias_symbol (synonym)MGC20689
LRR-1
Other alias4-1BBLRR
HGNC (Hugo) LRR1
LocusID (NCBI) 122769
Atlas_Id 41801
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 50065415 and ends at 50081390 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LRR1 (14q21.3) / KCNH5 (14q23.2)LRR1 (14q21.3) / MTHFD1 (14q23.3)LRR1 14q21.3 / KCNH5 14q23.2
LRR1 14q21.3 / MTHFD1 14q23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LRR1   19742
Cards
Entrez_Gene (NCBI)LRR1  122769  leucine rich repeat protein 1
Aliases4-1BBLRR; LRR-1; PPIL5
GeneCards (Weizmann)LRR1
Ensembl hg19 (Hinxton)ENSG00000165501 [Gene_View]  chr14:50065415-50081390 [Contig_View]  LRR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000165501 [Gene_View]  chr14:50065415-50081390 [Contig_View]  LRR1 [Vega]
ICGC DataPortalENSG00000165501
TCGA cBioPortalLRR1
AceView (NCBI)LRR1
Genatlas (Paris)LRR1
WikiGenes122769
SOURCE (Princeton)LRR1
Genetics Home Reference (NIH)LRR1
Genomic and cartography
GoldenPath hg19 (UCSC)LRR1  -     chr14:50065415-50081390 +  14q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRR1  -     14q21.3   [Description]    (hg38-Dec_2013)
EnsemblLRR1 - 14q21.3 [CytoView hg19]  LRR1 - 14q21.3 [CytoView hg38]
Mapping of homologs : NCBILRR1 [Mapview hg19]  LRR1 [Mapview hg38]
OMIM609193   
Gene and transcription
Genbank (Entrez)AA742244 AK293156 AY052405 BC030142 BC064133
RefSeq transcript (Entrez)NM_152329 NM_203466 NM_203467
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)LRR1
Cluster EST : UnigeneHs.451090 [ NCBI ]
CGAP (NCI)Hs.451090
Alternative Splicing GalleryENSG00000165501
Gene ExpressionLRR1 [ NCBI-GEO ]   LRR1 [ EBI - ARRAY_EXPRESS ]   LRR1 [ SEEK ]   LRR1 [ MEM ]
Gene Expression Viewer (FireBrowse)LRR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)122769
GTEX Portal (Tissue expression)LRR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L50   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96L50  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96L50
Splice isoforms : SwissVarQ96L50
PhosPhoSitePlusQ96L50
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt   
Domain families : Pfam (Sanger)LRR_8 (PF13855)   
Domain families : Pfam (NCBI)pfam13855   
Conserved Domain (NCBI)LRR1
DMDM Disease mutations122769
Blocks (Seattle)LRR1
SuperfamilyQ96L50
Human Protein AtlasENSG00000165501
Peptide AtlasQ96L50
HPRD15164
IPIIPI00743306   IPI00167013   IPI00465110   IPI00978628   IPI01026225   
Protein Interaction databases
DIP (DOE-UCLA)Q96L50
IntAct (EBI)Q96L50
FunCoupENSG00000165501
BioGRIDLRR1
STRING (EMBL)LRR1
ZODIACLRR1
Ontologies - Pathways
QuickGOQ96L50
Ontology : AmiGOprotein binding  protein ubiquitination  
Ontology : EGO-EBIprotein binding  protein ubiquitination  
NDEx NetworkLRR1
Atlas of Cancer Signalling NetworkLRR1
Wikipedia pathwaysLRR1
Orthology - Evolution
OrthoDB122769
GeneTree (enSembl)ENSG00000165501
Phylogenetic Trees/Animal Genes : TreeFamLRR1
HOVERGENQ96L50
HOGENOMQ96L50
Homologs : HomoloGeneLRR1
Homology/Alignments : Family Browser (UCSC)LRR1
Gene fusions - Rearrangements
Fusion : MitelmanLRR1/KCNH5 [14q21.3/14q23.2]  
Fusion : MitelmanLRR1/MTHFD1 [14q21.3/14q23.3]  [t(14;14)(q21;q23)]  
Fusion: TCGALRR1 14q21.3 KCNH5 14q23.2 BRCA
Fusion: TCGALRR1 14q21.3 MTHFD1 14q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRR1
dbVarLRR1
ClinVarLRR1
1000_GenomesLRR1 
Exome Variant ServerLRR1
ExAC (Exome Aggregation Consortium)LRR1 (select the gene name)
Genetic variants : HAPMAP122769
Genomic Variants (DGV)LRR1 [DGVbeta]
DECIPHER (Syndromes)14:50065415-50081390  ENSG00000165501
CONAN: Copy Number AnalysisLRR1 
Mutations
ICGC Data PortalLRR1 
TCGA Data PortalLRR1 
Broad Tumor PortalLRR1
OASIS PortalLRR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRR1
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRR1
DgiDB (Drug Gene Interaction Database)LRR1
DoCM (Curated mutations)LRR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRR1 (select a term)
intoGenLRR1
Cancer3DLRR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609193   
Orphanet
MedgenLRR1
Genetic Testing Registry LRR1
NextProtQ96L50 [Medical]
TSGene122769
GENETestsLRR1
Huge Navigator LRR1 [HugePedia]
snp3D : Map Gene to Disease122769
BioCentury BCIQLRR1
ClinGenLRR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD122769
Chemical/Pharm GKB GenePA134915321
Clinical trialLRR1
Miscellaneous
canSAR (ICR)LRR1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRR1
EVEXLRR1
GoPubMedLRR1
iHOPLRR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:07:54 CEST 2017

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