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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LEPRE1 Gene

protein-coding   GIFtS: 60
GCID: GC01M043185

Leucine Proline-Enriched Proteoglycan (Leprecan) 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine Proline-Enriched Proteoglycan (Leprecan) 11 2     Leucine- And Proline-Enriched Proteoglycan 12 3
Growth Suppressor 11 2 3     EC 1.14.11.73 8
GROS12 3 5     OI82 5
P3H12 3 5     leprecan2
Prolyl 3-Hydroxylase 11 2     Leprecan-13

External Ids:    HGNC: 193161   Entrez Gene: 641752   Ensembl: ENSG000001173857   OMIM: 6103395   UniProtKB: Q32P283   

Export aliases for LEPRE1 gene to outside databases

Previous GC identifers: GC01M042215 GC01M042675 GC01M042625 GC01M042881 GC01M042984 GC01M041331


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LEPRE1 Gene:
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are
localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly.
Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced
transcript variants encoding different isoforms have been described. Other variants may exist, but their
biological validity has not been determined. (provided by RefSeq, Aug 2011)

GeneCards Summary for LEPRE1 Gene: 
LEPRE1 (leucine proline-enriched proteoglycan (leprecan) 1) is a protein-coding gene. Diseases associated with LEPRE1 include lepre1-related osteogenesis imperfecta, and osteogenesis imperfecta type 8, and among its related super-pathways are Collagen formation. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and molecular_function. An important paralog of this gene is LEPREL2.

UniProtKB/Swiss-Prot: P3H1_HUMAN, Q32P28
Function: Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity
catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens,
especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in
fibroblasts




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LEPRE1 gene promoter:
         MAZR   p300   Olf-1   PPAR-alpha   Max   Pax-3   Ik-2   POU2F1   POU2F1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLEPRE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LEPRE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LEPRE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.1

LEPRE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEPRE1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M043185:  view genomic region     (about GC identifiers)

Start:
43,212,006 bp from pter      End:
43,232,755 bp from pter
Size:
20,750 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: P3H1_HUMAN, Q32P28 (See protein sequence)
Recommended Name: Prolyl 3-hydroxylase 1 precursor  
Size: 736 amino acids; 83394 Da
Cofactor: Iron (By similarity)
Cofactor: Ascorbate (By similarity)
Subcellular location: Endoplasmic reticulum (By similarity). Secreted, extracellular space, extracellular matrix
(By similarity). Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG)
Sequence caution: Sequence=AAH15309.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAI08312.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAB15256.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7KZR4 Q96BR8 Q96SK8 Q96SL5 Q96SN3 Q9H6K3 Q9HC86 Q9HC87
Alternative splicing: 3 isoforms:  Q32P28-1   Q32P28-2   Q32P28-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LEPRE1: NX_Q32P28

Explore proteomics data for LEPRE1 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated; chondroitin sulfate (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q32P28

  • 4/13 DME Specific Peptides for LEPRE1 (Q32P28) (see all 13)
     DPDSWTPE  CRALCEGP  ALRSRAAL  ALWFTLDP 

    LEPRE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LEPRE1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001139761.1  NP_001230175.1  NP_071751.3  

    ENSEMBL proteins: 
     ENSP00000236040   ENSP00000296388   ENSP00000408056   ENSP00000394294   ENSP00000361604  
     ENSP00000380245  
    Reactome Protein details: Q32P28
    Human Recombinant Protein Products for LEPRE1: 
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    Novus Biologicals LEPRE1 Proteins
    Novus Biologicals LEPRE1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LEPRE1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005788endoplasmic reticulum lumen TAS--

    LEPRE1 for ontologies           About GeneDecksing



    LEPRE1 Antibody Products: 
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    Novus Biologicals LEPRE1 Antibodies
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    ThermoFisher Antibodies for LEPRE1
    LSBio Antibodies in human, mouse, rat for LEPRE1 

    Assay Products for LEPRE1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for LEPRE1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LEPRE1 
    Cloud-Clone Corp. CLIAs for LEPRE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006620 Pro_4_hyd_alph
     IPR011990 TPR-like_helical
     IPR005123 Oxoglu/Fe-dep_dioxygenase

    Graphical View of Domain Structure for InterPro Entry Q32P28

    ProtoNet protein and cluster: Q32P28

    UniProtKB/Swiss-Prot: P3H1_HUMAN, Q32P28
    Similarity: Belongs to the leprecan family
    Similarity: Contains 1 Fe2OG dioxygenase domain
    Similarity: Contains 4 TPR repeats


    LEPRE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P3H1_HUMAN, Q32P28
    Function: Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity
    catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens,
    especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in
    fibroblasts
    Catalytic activity: L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] +
    succinate + CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.71 2

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    LEPRE1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lepre1):
     adipose tissue  growth/size  integument  limbs/digits/tail  muscle 
     skeleton 

    LEPRE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LEPRE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LEPRE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEPRE1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LEPRE1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LEPRE1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate LEPRE1:
    hsa-miR-3618 hsa-miR-495 hsa-miR-9 hsa-miR-323b-5p
    SwitchGear 3'UTR luciferase reporter plasmidLEPRE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of LEPRE1

    Clone
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    OriGene ORF clones in mouse, rat for LEPRE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LEPRE1 (NM_022356)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPRE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPRE1
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPRE1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LEPRE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for LEPRE1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    LEPRE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LEPRE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/17 Interacting proteins for LEPRE1 (Q32P283 ENSP000002963884) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    MED26O954023, ENSP000002633904I2D: score=1 STRING: ENSP00000263390
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=1 STRING: ENSP00000268607
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008285negative regulation of cell proliferation NAS10951563
    GO:0016049cell growth IEA--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization IEA--
    GO:0030278regulation of ossification IEA--

    LEPRE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LEPRE1 (P3H1)

    5 HMDB Compounds for LEPRE1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Hydroxy-L-prolineProcollagen trans-3-hydroxy-L-proline 4298-08-2--
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    IronArmco iron (see all 19)7439-89-6--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    3 DrugBank Compounds for LEPRE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--17139284 17016423
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about LEPRE1 / P3H1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LEPRE1 gene (3 alternative transcripts): 
    NM_001146289.1  NM_001243246.1  NM_022356.3  

    Unigene Cluster for LEPRE1:

    Leucine proline-enriched proteoglycan (leprecan) 1
    Hs.720014  [show with all ESTs]
    Unigene Representative Sequence: NM_001243246
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460031 ENST00000236040(uc001chx.4) ENST00000495874 ENST00000296388
    ENST00000462474 ENST00000472802 ENST00000431412 ENST00000460831 ENST00000481465
    ENST00000447502 ENST00000463465 ENST00000372526 ENST00000492956(uc001chy.4)
    ENST00000397054(uc001chv.2 uc001chw.2)
    miRNA
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    hsa-miR-3618 hsa-miR-495 hsa-miR-9 hsa-miR-323b-5p
    SwitchGear 3'UTR luciferase reporter plasmidLEPRE1 3' UTR sequence
    Inhib. RNA
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    OriGene clones in human, mouse for LEPRE1 (see all 13)
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    GenScript: all cDNA clones in your preferred vector (see all 2): LEPRE1 (NM_022356)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPRE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPRE1
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    Additional mRNA sequence: 

    AF097431.1 AF097432.1 AK025841.1 AK027680.1 AK027697.1 AK075418.1 AK297980.1 AK300210.1 
    BC004160.2 BC015309.2 BC091513.1 BC108311.1 BC143961.1 BC143962.1 BT007039.1 CR749690.1 

    20 DOTS entries:

    DT.100811737  DT.80101239  DT.100719090  DT.100811735  DT.95185348  DT.101984888  DT.95185326  DT.97847133 
    DT.100811732  DT.80101251  DT.121452489  DT.99943333  DT.121452545  DT.40298331  DT.95185342  DT.92441422 
    DT.100765647  DT.102823640  DT.95185345  DT.121452549 

    24/312 AceView cDNA sequences (see all 312):

    AI870401 CF265106 AI356147 BU177586 BQ678572 CA488534 BQ678346 BQ086358 
    BU147415 BG287625 CR623026 BE273625 BG983857 BM802225 BU179488 CR602565 
    AI868837 BF912781 CR602313 CF142125 AI758550 BE221075 BU732693 BI856252 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for LEPRE1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^
    SP1:                                                              -           -     -                       -                                   -           -   
    SP2:                                                              -           -     -                       -                                   -           -   
    SP3:                                                              -           -                                                                 -           -   
    SP4:                                                              -           -     -                       -                                   -           -   
    SP5:                                                                                                        -                                               -   

    ExUns: 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17
    SP1:  -                                         -         
    SP2:  -                                                   
    SP3:  -                                         -         
    SP4:  -                                                   
    SP5:  -                                                   


    ECgene alternative splicing isoforms for LEPRE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LEPRE1 expression in normal human tissues (normalized intensities)      LEPRE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTTTTTA
    LEPRE1 Expression
    About this image


    LEPRE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Long Bone
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Chondrocytes Zeugopod Epiphyseal End
             sensory organ/nose/nasal septum   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             skeleton/cranium/chondrocranium   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal septum   
     
     Eye (Sensory Organs)
             optic nerve head astrocytes   

    See LEPRE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LEPRE1

    SOURCE GeneReport for Unigene cluster: Hs.720014
        SABiosciences Custom PCR Arrays for LEPRE1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LEPRE1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lepre11 , 5 leprecan 11, 5 87.09(n)1
    88.04(a)1
      4 (55.34 cM)5
    564011  NM_019783.21  NP_062757.21 
     1192329155 
    chicken
    (Gallus gallus)
    Aves LEPRE11 leucine proline-enriched proteoglycan (leprecan) 1 75.58(n)
    79.09(a)
      414142  NM_001001529.1  NP_001001529.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ074409.12   -- 74.92(n)    BJ074409.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lepre11 leucine proline-enriched proteoglycan (leprecan) 1 60.6(n)
    55.76(a)
      553321  XM_002663819.1  XP_002663865.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73F8A.266
    Protein Y73F8A.26
    21(a)
    1 → many
    IV(15473660-15477512)


    ENSEMBL Gene Tree for LEPRE1 (if available)
    TreeFam Gene Tree for LEPRE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LEPRE1 gene
    LEPREL22  CRTAP2  LEPREL12  LEPREL42  
    5 SIMAP similar genes for LEPRE1 using alignment to 4 protein entries:     P3H1_HUMAN (see all proteins):
    DKFZp547C166    LEPREL1    LEPREL2    CRTAP    LEPREL4

    LEPRE1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/656 SNPs in LEPRE1 are shown (see all 656)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs726593551,2
    Cpathogenic143294406(-) TCCTAA/CTTCCG 6 * Y stg10--------
    rs1182039961,2
    Cpathogenic143299790(-) GACAGC/TGAAGC 6 R * stg10--------
    rs1378538901,2
    Cuntested143291413(-) CGAGCA/GGGTGA 5 A syn1 int10--------
    rs37384971,2,4
    C,F,Huntested143291556(+) ACACTG/TAGGCT 6 K Q mis1 ese315Minor allele frequency- T:0.01EA NS NA EU 7805
    rs348096081,2
    C,Funtested143292385(-) GAGCCC/TCCAGC 6 P syn15Minor allele frequency- T:0.02NA WA EU 6027
    rs355001641,2
    C,Funtested143294346(-) GCCATC/TGAAGG 6 I syn13Minor allele frequency- T:0.01NA WA 4580
    rs115819211,2,4
    C,F,A,Huntested143294415(+) GACTCC/TATGAT 6 I M mis129Minor allele frequency- T:0.05NS EA NA WA EU 8779
    rs37385011,2,4
    C,F,Huntested143296500(+) TATGTG/CGGGAG 6 /P /R mis1 ese36Minor allele frequency- C:0.01EA NS NA 1866
    rs726593511,2
    C,Funtested143301956(-) GTGAGG/TTGAGA 3 -- spd11Minor allele frequency- T:0.00NA 4552
    rs67006771,2,4
    C,F,Huntested143301992(+) TTCTCC/TAAGCA 6 R G mis123Minor allele frequency- T:0.07NA NS EA WA CSA EU 8249

    HapMap Linkage Disequilibrium report for LEPRE1 (43212006 - 43232755 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LEPRE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv829682CNV Loss17160897


    Human Gene Mutation Database (HGMD): LEPRE1

    Locus Specific Mutation Databases (LSDB): LEPRE1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610339   
    OMIM disorders: 610915  
    UniProtKB/Swiss-Prot: P3H1_HUMAN, Q32P28
  • Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue
    disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma.
    Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality.
    Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing
    loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening
    of the long bones, white sclerae, a round face and a short barrel-shaped chest. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 10 diseases for LEPRE1:    About MalaCards
    lepre1-related osteogenesis imperfecta    osteogenesis imperfecta type 8    cervical incompetence    osteogenesis imperfecta
    osteogenesis imperfecta, type ii    dentinogenesis imperfecta    connective tissue disease    short stature
    cervicitis    hepatocellular carcinoma

    2 diseases from the University of Copenhagen DISEASES database for LEPRE1:
    Osteogenesis imperfecta     Dentinogenesis imperfecta

    LEPRE1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for LEPRE1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteogenesis imperfecta 91 21 19088120 (2), 20089953 (1), 19846465 (1), 19550437 (1) (see all 8)


    Export disorders for LEPRE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LEPRE1 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with LEPRE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan. (PubMed id 10951563)1, 2, 3, 9 Kaul S.C.... Wadhwa R. (2000)
    2. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. (PubMed id 17277775)1, 2, 9 Cabral W.A.... Marini J.C. (2007)
    3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabili zing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PubMed id 19846465)1, 9 Chang W....Marini J.C. (2010)
    7. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. (PubMed id 19088120)1, 9 Willaert A....De Paepe A. (2009)
    8. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PubMed id 18566967)1, 9 Baldridge D....Lee B. (2008)
    9. Null mutations in LEPRE1 and CRTAP cause severe reces sive osteogenesis imperfecta. (PubMed id 19862557)1, 9 Marini J.C....Barnes A.M. (2010)
    10. Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. (PubMed id 15044469)1, 9 Vranka J.A....Bachinger H.P. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64175 HGNC: 19316 AceView: LEPRE1 Ensembl:ENSG00000117385 euGenes: HUgn64175
    ECgene: LEPRE1 H-InvDB: LEPRE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LEPRE1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LEPRE1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LEPRE1
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=LEPRE1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LEPRE1 gene:
    Search GeneIP for patents involving LEPRE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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