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LEPRE1 (leucine proline-enriched proteoglycan (leprecan) 1)

Identity

Other namesGROS1
OI8
P3H1
HGNC (Hugo) LEPRE1
LocusID (NCBI) 64175
Location 1p34.2
Location_base_pair Starts at 43212006 and ends at 43232755 bp from pter ( according to hg19-Feb_2009)
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)LEPRE1   19316
Cards
Entrez_Gene (NCBI)LEPRE1  64175  leucine proline-enriched proteoglycan (leprecan) 1
GeneCards (Weizmann)LEPRE1
Ensembl hg19 (Hinxton)ENSG00000117385 [Gene_View]  chr1:43212006-43232755 [Contig_View]  LEPRE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000117385 [Gene_View]  chr1:43212006-43232755 [Contig_View]  LEPRE1 [Vega]
ICGC DataPortalENSG00000117385
cBioPortalLEPRE1
AceView (NCBI)LEPRE1
Genatlas (Paris)LEPRE1
WikiGenes64175
SOURCE (Princeton)LEPRE1
Genomic and cartography
GoldenPath hg19 (UCSC)LEPRE1  -     chr1:43212006-43232755 -  1p34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LEPRE1  -     1p34.2   [Description]    (hg38-Dec_2013)
EnsemblLEPRE1 - 1p34.2 [CytoView hg19]  LEPRE1 - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBILEPRE1 [Mapview hg19]  LEPRE1 [Mapview hg38]
OMIM610339   610915   
Gene and transcription
Genbank (Entrez)AF097431 AF097432 AK025841 AK027648 AK027680
RefSeq transcript (Entrez)NM_001146289 NM_001243246 NM_022356
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008123 NT_032977 NW_001838578 NW_004929290
Consensus coding sequences : CCDS (NCBI)LEPRE1
Cluster EST : UnigeneHs.720014 [ NCBI ]
CGAP (NCI)Hs.720014
Alternative Splicing : Fast-db (Paris)GSHG0002031
Alternative Splicing GalleryENSG00000117385
Gene ExpressionLEPRE1 [ NCBI-GEO ]     LEPRE1 [ SEEK ]   LEPRE1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ32P28 (Uniprot)
NextProtQ32P28  [Medical]
With graphics : InterProQ32P28
Splice isoforms : SwissVarQ32P28 (Swissvar)
Catalytic activity : Enzyme1.14.11.7 [ Enzyme-Expasy ]   1.14.11.71.14.11.7 [ IntEnz-EBI ]   1.14.11.7 [ BRENDA ]   1.14.11.7 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    TPR-like_helical   
Related proteins : CluSTrQ32P28
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
DMDM Disease mutations64175
Blocks (Seattle)Q32P28
Human Protein AtlasENSG00000117385
Peptide AtlasQ32P28
HPRD11227
IPIIPI00163381   IPI00761114   IPI00045839   IPI01013314   IPI00916562   IPI00644560   IPI00916709   
Protein Interaction databases
DIP (DOE-UCLA)Q32P28
IntAct (EBI)Q32P28
FunCoupENSG00000117385
BioGRIDLEPRE1
IntegromeDBLEPRE1
STRING (EMBL)LEPRE1
Ontologies - Pathways
QuickGOQ32P28
Ontology : AmiGOmolecular_function  iron ion binding  collagen binding  proteinaceous extracellular matrix  nucleus  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  negative regulation of cell proliferation  membrane  cell growth  protein hydroxylation  peptidyl-proline hydroxylation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  extracellular matrix organization  collagen fibril organization  regulation of ossification  L-ascorbic acid binding  protein complex binding  collagen metabolic process  macromolecular complex  regulation of protein secretion  protein stabilization  oxidation-reduction process  bone development  chaperone-mediated protein folding  extracellular vesicular exosome  negative regulation of post-translational protein modification  
Ontology : EGO-EBImolecular_function  iron ion binding  collagen binding  proteinaceous extracellular matrix  nucleus  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  negative regulation of cell proliferation  membrane  cell growth  protein hydroxylation  peptidyl-proline hydroxylation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  extracellular matrix organization  collagen fibril organization  regulation of ossification  L-ascorbic acid binding  protein complex binding  collagen metabolic process  macromolecular complex  regulation of protein secretion  protein stabilization  oxidation-reduction process  bone development  chaperone-mediated protein folding  extracellular vesicular exosome  negative regulation of post-translational protein modification  
Protein Interaction DatabaseLEPRE1
DoCM (Curated mutations)LEPRE1
Wikipedia pathwaysLEPRE1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerLEPRE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LEPRE1
dbVarLEPRE1
ClinVarLEPRE1
1000_GenomesLEPRE1 
Exome Variant ServerLEPRE1
SNP (GeneSNP Utah)LEPRE1
SNP : HGBaseLEPRE1
Genetic variants : HAPMAPLEPRE1
Genomic VariantsLEPRE1  LEPRE1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000117385 
Somatic Mutations in Cancer : COSMICLEPRE1 
CONAN: Copy Number AnalysisLEPRE1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Osteogenesis Imperfecta Variant Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:43212006-43232755
Mutations and Diseases : HGMDLEPRE1
OMIM610339    610915   
MedgenLEPRE1
NextProtQ32P28 [Medical]
GENETestsLEPRE1
Disease Genetic AssociationLEPRE1
Huge Navigator LEPRE1 [HugePedia]  LEPRE1 [HugeCancerGEM]
snp3D : Map Gene to Disease64175
DGIdb (Drug Gene Interaction db)LEPRE1
General knowledge
Homologs : HomoloGeneLEPRE1
Homology/Alignments : Family Browser (UCSC)LEPRE1
Phylogenetic Trees/Animal Genes : TreeFamLEPRE1
Chemical/Protein Interactions : CTD64175
Chemical/Pharm GKB GenePA134930599
Clinical trialLEPRE1
Cancer Resource (Charite)ENSG00000117385
Other databases
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
CoreMineLEPRE1
GoPubMedLEPRE1
iHOPLEPRE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:26:48 CET 2014

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