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

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

Aliases
Leprecan-Like 11 2     EC 1.14.11.73 8
Prolyl 3-Hydroxylase 21 2     MCVD2
Myxoid Liposarcoma-Associated Protein 42 3     Prolyl 3-Hydroxylase 32
MLAT42 3     Leprecan-Like Protein 13
P3H22 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myxoid liposarcoma, and liposarcoma, and among its related super-pathways are Collagen formation. GO annotations related to this gene include L-ascorbic acid binding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LEPREL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Endoplasmic reticulum. Golgi apparatus
Sequence caution: Sequence=BAA91769.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KWI9 Q9NVI2

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

Explore proteomics data for LEPREL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IVL5

  • 4/6 DME Specific Peptides for LEPREL1 (Q8IVL5) (see all 6)
     ALWFTLDP  CEGPQRFEE  VRSDFQRRVPY  QLNGTQRVLLDNV 

    LEPREL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LEPREL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001127890.1  NP_060662.2  

    ENSEMBL proteins: 
     ENSP00000316881   ENSP00000408947   ENSP00000391374   ENSP00000394326  
    Reactome Protein details: Q8IVL5
    Human Recombinant Protein Products for LEPREL1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LEPREL1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    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
    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,
    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: 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 ----
    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 ----
         
    LEPREL1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LEPREL1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEPREL1 
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    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
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    (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 LEPREL1 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 LEPREL1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    LEPREL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LEPREL1

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

    5/7 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 (GO ID links to tree view):    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 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 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

    Search CenterWatch for drugs/clinical trials and news about LEPREL1 / P3H2

    (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 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
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    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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPREL1
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    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 

    24/142 AceView cDNA sequences (see all 142):

    BQ931843 AU123843 BU540640 BM700085 BM990732 BU859228 N68558 CA429435 
    AW613557 AI682643 BP339488 BU737886 BU621129 BM985231 CD671820 AI628370 
    R27530 BF434223 CA420096 CN481742 AW298039 AI802673 CA433550 AW135812 

    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™, 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

    LEPREL1 expression in normal human tissues (normalized intensities)      LEPREL1 embryonic expression: see
    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 
     5/19 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
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
             gingival epithelium   
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Conventional Dendritic Cells I Spleen
             cd49a+ cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Human Renal Proximal Tubular Epithelial Cells (HRPTEpiC)   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor

    See LEPREL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LEPREL1

    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

        SABiosciences Custom PCR Arrays for LEPREL1
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for LEPREL1 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 Leprel11 , 5 leprecan-like 11, 5 85.57(n)1
    90.03(a)1
      16 (17.63 cM)5
    2105301  NM_173379.21  NP_775555.11 
     259592885 
    chicken
    (Gallus gallus)
    Aves LEPREL11 leprecan-like 1 73.43(n)
    75.94(a)
      414143  NM_001001530.1  NP_001001530.1 
    lizard
    (Anolis carolinensis)
    Reptilia LEPREL16
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343386.1(125949-253305)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5666971 novel protein similar to vertebrate leprecan-like 1 more 60.77(n)
    59.46(a)
      566697  XM_003201065.1  XP_003201113.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73F8A.266
    Protein Y73F8A.26
    20(a)
    1 → many
    IV(15473660-15477512)


    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
    Paralogs for LEPREL1 gene
    LEPRE12  LEPREL22  CRTAP2  LEPREL42  
    4 SIMAP similar genes for LEPREL1 using alignment to 5 protein entries:     P3H2_HUMAN (see all proteins):
    DKFZp547C166    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) 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

    10/4214 SNPs in LEPREL1 are shown (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) 10/30 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
    SABiosciences Cancer Mutation 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
    OMIM gene information: 610341    OMIM disorders: --

    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

  • 19 diseases for LEPREL1:    About MalaCards
    myxoid liposarcoma    liposarcoma    vitreoretinal degeneration    pleural empyema
    myopia    scarlet fever    lens subluxation    lymphadenitis
    acute pyelonephritis    pyelonephritis    cellulitis    retinal detachment
    cataract    bronchitis    otitis media    breast cancer
    tonsillitis    meningitis    retinitis


    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

    PubMed articles for LEPREL1 gene, integrated from 9 sources (see all 22):
    (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. (2011)
    2. LEPREL1, a novel ER and Golgi resident member of the Leprecan family. (PubMed id 15063763)1, 2, 3 Jaernum S....Aaman P. (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. (2010)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas. (PubMed id 10449603)1, 2 Thelin-Jaernum S.... Aaman P. (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. (2009)
    9. A role for prolyl 3-hydroxylase 2 in post-translation al modification of fibril-forming collagens. (PubMed id 21757687)1 Fernandes R.J....Eyre D.R. (2011)
    10. Genome-wide pharmacogenomic study of neurocognition a s an indicator of antipsychotic treatment response in schizophrenia. (PubMed id 21107309)4 McClay J.L....van den Oord E.J. (2011)

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

      Query String
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    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: 55214 HGNC: 19317 AceView: LEPREL1 Ensembl:ENSG00000090530 euGenes: HUgn55214
    ECgene: LEPREL1 H-InvDB: LEPREL1

    (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 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
    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



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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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