Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



LEPREL1 Gene

protein-coding   GIFtS: 57
GCID: GC03M189674

Leprecan-Like 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

TryGeneCards Plus

Aliases
Leprecan-Like 11 2     EC 1.14.11.73 8
P3H22 3 5     MCVD2 5
Prolyl 3-Hydroxylase 21 2     Prolyl 3-Hydroxylase 32
Myxoid Liposarcoma-Associated Protein 42 3     Leprecan-Like Protein 13
MLAT42 3     

External Ids:    HGNC: 193171   Entrez Gene: 552142   Ensembl: ENSG000000905307   OMIM: 6103415   UniProtKB: Q8IVL53   

Export aliases for LEPREL1 gene to outside databases

Previous GC identifers: GC03M190996 GC03M191157 GC03M187072


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

TryGeneCards Plus

Entrez Gene summary for LEPREL1 Gene:
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These
enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing
post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic
severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in
breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for LEPREL1 Gene:
LEPREL1 (leprecan-like 1) is a protein-coding gene. Diseases associated with LEPREL1 include myopia, high, with cataract and vitreoretinal degeneration, and vitreoretinal degeneration. GO annotations related to this gene include procollagen-proline 3-dioxygenase activity and iron ion binding. An important paralog of this gene is LEPRE1.

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5
Function: Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in
-Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the LEPREL1 gene promoter:
         E2F-3a   E2F-1   E2F   FOXD3   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLEPREL1 promoter sequence
   Search Chromatin IP Primers for LEPREL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LEPREL1


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

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q28   HGNC cytogenetic band: 3q29

LEPREL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEPREL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M189674:  view genomic region     (about GC identifiers)

Start:
189,674,517 bp from pter      End:
189,840,226 bp from pter
Size:
165,710 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5 (See protein sequence)
Recommended Name: Prolyl 3-hydroxylase 2 precursor  
Size: 708 amino acids; 80984 Da
Cofactor: Iron (By similarity)
Cofactor: Ascorbate (By similarity)
Sequence caution: Sequence=BAA91769.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KPK0 B3KWI9 D3DNV8 Q9NVI2
Alternative splicing: 2 isoforms:  Q8IVL5-1   Q8IVL5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LEPREL1: NX_Q8IVL5

Explore proteomics data for LEPREL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn449, Asn549
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LEPREL1 (Q8IVL5) (see all 6)
     ALWFTLDP  CEGPQRFEE  VRSDFQRRVPY  QLNGTQRVLLDNV 


    See LEPREL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001127890.1  NP_060662.2  

    ENSEMBL proteins: 
     ENSP00000316881   ENSP00000408947   ENSP00000391374   ENSP00000394326  
    Reactome Protein details: Q8IVL5

    LEPREL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for LEPREL1
    GenScript Custom Purified and Recombinant Proteins Services for LEPREL1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LEPREL1

    LEPREL1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for LEPREL1
    Novus Biologicals LEPREL1 Antibodies
    Abcam antibodies for LEPREL1
    Cloud-Clone Corp. Antibodies for LEPREL1
    Search ThermoFisher Antibodies for LEPREL1
    LSBio Antibodies in human, mouse, rat for LEPREL1

    LEPREL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LEPREL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LEPREL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LEPREL1
    Cloud-Clone Corp. CLIAs for LEPREL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR006620 Pro_4_hyd_alph
     IPR011990 TPR-like_helical
     IPR005123 Oxoglu/Fe-dep_dioxygenase
     IPR013105 TPR_2

    Graphical View of Domain Structure for InterPro Entry Q8IVL5

    ProtoNet protein and cluster: Q8IVL5

    UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5
    Similarity: Belongs to the leprecan family
    Similarity: Contains 1 Fe2OG dioxygenase domain
    Similarity: Contains 4 TPR repeats


    LEPREL1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P3H2_HUMAN, Q8IVL5
    Function: Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in
    -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V (By similarity)
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors ----
    GO:0019797procollagen-proline 3-dioxygenase activity IDA18487197
         
    LEPREL1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LEPREL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LEPREL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEPREL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LEPREL1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat LEPREL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LEPREL1 (see all 22):
    hsa-miR-15a hsa-miR-103a hsa-miR-424 hsa-miR-649 hsa-miR-204 hsa-miR-2115 hsa-miR-199b-5p hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidLEPREL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LEPREL1
    Predesigned siRNA for gene silencing in human, mouse, rat LEPREL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LEPREL1

    Clone
    Products:
         
    OriGene clones in human, mouse for LEPREL1 (see all 11)
    OriGene ORF clones in mouse, rat for LEPREL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LEPREL1 (NM_018192)
    Sino Biological Human cDNA Clone for LEPREL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPREL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPREL1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LEPREL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for LEPREL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPREL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    P3H2_HUMAN, Q8IVL5: Endoplasmic reticulum. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    extracellular4
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane ISS--
    GO:0005783endoplasmic reticulum IDA15063763
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005794Golgi apparatus IDA15063763

    LEPREL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for LEPREL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Collagen formation0.75
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for LEPREL1
        Collagen biosynthesis and modifying enzymes



    LEPREL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LEPREL1
    Interactions:

        Search GeneGlobe Interaction Network for LEPREL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for LEPREL1 (ENSP000003168814) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL3A1ENSP000003044084STRING: ENSP00000304408
    GPR162ENSP000003115284STRING: ENSP00000311528
    LEPRE1ENSP000002963884STRING: ENSP00000296388
    P4HBENSP000003278014STRING: ENSP00000327801
    COL10A1ENSP000002432224STRING: ENSP00000243222
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008285negative regulation of cell proliferation IDA19436308
    GO:0019511peptidyl-proline hydroxylation IDA18487197
    GO:0030198extracellular matrix organization TAS--
    GO:0032963collagen metabolic process IDA18487197
    GO:0055114oxidation-reduction process ----

    LEPREL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LEPREL1 (P3H2)

    5 HMDB Compounds for LEPREL1    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 LEPREL1    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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for LEPREL1 gene (2 alternative transcripts): 
    NM_001134418.1  NM_018192.3  

    Unigene Cluster for LEPREL1:

    Leprecan-like 1
    Hs.374191  [show with all ESTs]
    Unigene Representative Sequence: NM_018192
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319332(uc011bsk.2) ENST00000427335(uc003fsg.3) ENST00000490940
    ENST00000463171 ENST00000467131 ENST00000482780 ENST00000470925 ENST00000475095
    ENST00000444866 ENST00000426003
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LEPREL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LEPREL1 (see all 22):
    hsa-miR-15a hsa-miR-103a hsa-miR-424 hsa-miR-649 hsa-miR-204 hsa-miR-2115 hsa-miR-199b-5p hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidLEPREL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LEPREL1
    Predesigned siRNA for gene silencing in human, mouse, rat LEPREL1
    Clone
    Products:
         
    OriGene clones in human, mouse for LEPREL1 (see all 11)
    OriGene ORF clones in mouse, rat for LEPREL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LEPREL1 (NM_018192)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPREL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPREL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for LEPREL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEPREL1
      QuantiTect SYBR Green Assays in human, mouse, rat LEPREL1
      QuantiFast Probe-based Assays in human, mouse, rat LEPREL1

    Additional mRNA sequence: 

    AJ430351.2 AK001580.1 AK056447.1 AK125134.1 BC005029.1 

    12 DOTS entries:

    DT.100773289  DT.213835  DT.95162783  DT.100773292  DT.120851735  DT.120851770  DT.120851793  DT.75182751 
    DT.91755115  DT.91919633  DT.95162781  DT.91769263 

    Selected AceView cDNA sequences (see all 142):

    CA420096 AI628370 AU123843 BM806128 BQ931843 CA429435 BE350132 CA433550 
    R27530 BM700085 AI969804 BU737886 BP339488 BU621129 AK125134 N68558 
    AW298039 CN481742 AI343916 AA035462 AW135812 BU540640 CA419679 BF434223 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    LEPREL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGGTTGC
    LEPREL1 Expression
    About this image


    LEPREL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Roof Plate Cells Spinal Roof Plate
             Mesencephalic Floor Plate
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
             Chondrocyte-like cells
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Plasmacytoid Dendritic cells Peripheral Blood
    LEPREL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LEPREL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374191

    UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5
    Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to
    the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized
    to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells

        Custom PCR Arrays for LEPREL1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for LEPREL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEPREL1
    QuantiTect SYBR Green Assays in human, mouse, rat LEPREL1
    QuantiFast Probe-based Assays in human, mouse, rat LEPREL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPREL1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for LEPREL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Leprel11 , 5 leprecan-like 11, 5 85.85(n)1
    90.9(a)1
      16 (17.63 cM)5
    2105301  NM_173379.21  NP_775555.11 
     259592885 
    chicken
    (Gallus gallus)
    Aves LEPREL11 leprecan-like 1 73.38(n)
    75.94(a)
      414143  NM_001001530.1  NP_001001530.1 
    lizard
    (Anolis carolinensis)
    Reptilia LEPREL16
    leprecan-like 1
    62(a)
    1 ↔ 1
    GL343386.1(125949-253305)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia leprel11 leprecan-like 1 65.76(n)
    65.91(a)
      100496461  XM_002934042.2  XP_002934088.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5666971 novel protein similar to vertebrate leprecan-like 1 more 60.77(n)
    59.61(a)
      566697  XM_003201065.2  XP_003201113.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73F8A.266
    Protein Y73F8A.26 (Y73F8A.26) mRNA, complete cds
    23(a)
    1 → many
    IV(15473660-15477512) WBGene00013531


    ENSEMBL Gene Tree for LEPREL1 (if available)
    TreeFam Gene Tree for LEPREL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for LEPREL1 gene
    LEPRE12  LEPREL22  CRTAP2  LEPREL42  
    3 SIMAP similar genes for LEPREL1 using alignment to 4 protein entries:     P3H2_HUMAN (see all proteins):
    LEPRE1    LEPREL2    CRTAP

    LEPREL1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for LEPREL1 (see all 4214)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361234
    A breast cancer sample4--see VAR_0361232 D N mis40--------
    VAR_0666374
    Myopia, high, with cataract and vitreoretinal degeneration (MCVD)4--see VAR_0666372 G V mis40--------
    rs2004582851,2
    C--187088790(+) AAAAA-/CACAAA 2 -- int10--------
    rs130722681,2
    C,F,H--187091846(+) AAAAAT/GCTACC 2 -- int13Minor allele frequency- G:0.33EA NS 252
    rs2021743531,2
    C--187091846(+) AAAAA-/GCTACC 2 -- int10--------
    rs1455925751,2
    C--187117526(+) TACAC-/ATGTCAC 2 -- int10--------
    rs58552931,2
    C--187119268(+) AAAAA-/A/A   
       A
    /AAA
    CTATC
    4 -- int1 cds1 trp31NA 2
    rs768030101,2
    --187129694(+) ATCTTA/TTTTTT 2 -- int10--------
    rs76303291,2
    C--187147071(+) gagacC/Gagtct 2 -- int10--------
    rs114057301,2
    C--187147267(+) AAAAAA/-GAAAT 2 -- int1 trp31Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for LEPREL1 (189674517 - 189840226 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LEPREL1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2002247CNV Deletion18987734
    nsv821335CNV Deletion20802225
    esv2664192CNV Deletion23128226
    esv2726375CNV Deletion23290073
    esv2726372CNV Deletion23290073
    esv2659807CNV Deletion23128226
    esv2630337CNV Deletion19546169
    dgv901e199CNV Deletion23128226
    esv2726371CNV Deletion23290073
    esv2726373CNV Deletion23290073

    Human Gene Mutation Database (HGMD): LEPREL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LEPREL1
    DNA2.0 Custom Variant and Variant Library Synthesis for LEPREL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 610341   
    OMIM disorders: 614292  
    UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5
  • Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized
    by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest
    lens subluxation, lens instability and retinal detachment. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for LEPREL1 (see all 28):    
    About MalaCards
    myopia, high, with cataract and vitreoretinal degeneration    vitreoretinal degeneration    myxoid liposarcoma    pleural empyema
    liposarcoma    myopia    scarlet fever    lens subluxation
    lymphadenitis    acute pyelonephritis    cellulitis    pyelonephritis
    cataract    retinal detachment    bronchitis    otitis media
    breast cancer    tonsillitis    meningitis    bronchiolitis


    LEPREL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LEPREL1
    Human Genome Epidemiology (HuGE) Navigator: LEPREL1 (2 documents)

    Export disorders for LEPREL1 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

    TryGeneCards Plus

    PubMed articles for LEPREL1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with LEPREL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. High myopia caused by a mutation in LEPREL1, encoding prolyl 3- hydroxylase 2. (PubMed id 21885030)1, 2, 3 Mordechai S.... Birk O.S. (Am. J. Hum. Genet. 2011)
    2. LEPREL1, a novel ER and Golgi resident member of the Leprecan family. (PubMed id 15063763)1, 2, 3 Jaernum S....Aaman P. (Biochem. Biophys. Res. Commun. 2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas. (PubMed id 10449603)1, 2 Thelin-Jaernum S.... Aaman P. (Int. J. Cancer 1999)
    8. The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer. (PubMed id 19436308)1, 9 Shah R....Crook T. (Br. J. Cancer 2009)
    9. A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens. (PubMed id 21757687)1 Fernandes R.J.... Eyre D.R. (J. Biol. Chem. 2011)
    10. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (PubMed id 21107309)4 McClay J.L....van den Oord E.J. (Neuropsychopharmacology 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 55214 HGNC: 19317 AceView: LEPREL1 Ensembl:ENSG00000090530 euGenes: HUgn55214
    ECgene: LEPREL1 H-InvDB: LEPREL1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for LEPREL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LEPREL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for LEPREL1 gene:
    Search GeneIP for patents involving LEPREL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for LEPREL1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for LEPREL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for LEPREL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for LEPREL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for LEPREL1   OriGene Custom Protein Services for LEPREL1  

     
     
     Block miRNA regulation of human, mouse, rat LEPREL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing LEPREL1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LEPREL1 Predesigned siRNA for gene silencing in human, mouse, rat LEPREL1
     QuantiFast Probe-based Assays in human, mouse, rat LEPREL1 QuantiTect SYBR Green Assays in human, mouse, rat LEPREL1
     Custom PCR Arrays for LEPREL1 Search Chromatin IP Primers for LEPREL1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEPREL1  Search GeneGlobe Interaction Network for LEPREL1
     Regulatory tfbs in LEPREL1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for LEPREL1 GenScript cDNA clones with any tag delivered in your preferred vector for LEPREL1
     GenScript Custom Assay Services for LEPREL1 GenScript Custom overexpressing Cell Line Services for LEPREL1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for LEPREL1 (P3H2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for LEPREL1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     LEPREL1 antibodies
     Antibodies for LEPREL1
     See all of Abcam's Antibodies, Kits and Proteins for LEPREL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for LEPREL1
     Antibodies for LEPREL1
     ELISAs for LEPREL1
     CLIAs for LEPREL1



     Browse ESI BIO Cell Lines and PureStem Progenitors for LEPREL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPREL1
     SwitchGear 3'UTR luciferase reporter plasmids for LEPREL1
     SwitchGear Promoter luciferase reporter plasmids for LEPREL1
     Search ThermoFisher Antibodies for LEPREL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPREL1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LEPREL1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LEPREL1
     LSBio Antibodies in human, mouse, rat for LEPREL1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      LEPREL1 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4