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LOXL1 Gene

protein-coding   GIFtS: 62
GCID: GC15P074218

Lysyl Oxidase-Like 1

  See LOXL1-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)
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Aliases
Lysyl Oxidase-Like 11 2     Lysyl Oxidase Homolog 12
LOXL2 3 5     EC 1.4.3.-3
Lysyl Oxidase-Like Protein 12 3     EC 1.4.38
LOL2 3     EC 1.4.3.138

External Ids:    HGNC: 66651   Entrez Gene: 40162   Ensembl: ENSG000001290387   OMIM: 1534565   UniProtKB: Q083973   

Export aliases for LOXL1 gene to outside databases

Previous GC identifers: GC15P070239 GC15P067334 GC15P071794 GC15P071934 GC15P072005 GC15P051050


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LOXL1 Gene:
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to
the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the
first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the
C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain
this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation,
senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LOXL1 Gene:
LOXL1 (lysyl oxidase-like 1) is a protein-coding gene. Diseases associated with LOXL1 include iris disease, and exfoliation syndrome. GO annotations related to this gene include oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor and copper ion binding. An important paralog of this gene is LOXL2.

UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397
Function: Active on elastin and collagen substrates (By similarity)

Gene Wiki entry for LOXL1 Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the LOXL1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLOXL1 promoter sequence
   Search Chromatin IP Primers for LOXL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LOXL1


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q24-q25

LOXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LOXL1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P074218:  view genomic region     (about GC identifiers)

Start:
74,218,330 bp from pter      End:
74,244,478 bp from pter
Size:
26,149 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397 (See protein sequence)
Recommended Name: Lysyl oxidase homolog 1 precursor  
Size: 574 amino acids; 63110 Da
Cofactor: Copper (By similarity)
Cofactor: Contains 1 lysine tyrosylquinone (By similarity)
Secondary accessions: Q6NUL3 Q96BW7

Explore the universe of human proteins at neXtProt for LOXL1: NX_Q08397

Explore proteomics data for LOXL1 at MOPED

Post-translational modifications: 

  • The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine
    with a topaquinone produced by oxidation of tyrosine1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LOXL1 (Q08397) (see all 8)
     ESDFTNN  QASTYVQ  PGNYILKV  GLPDLVPDP 


    See LOXL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005567.2  
    ENSEMBL proteins: 
     ENSP00000457827   ENSP00000261921  
    Reactome Protein details: Q08397

    LOXL1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for LOXL1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001695 Lysyl_oxidase
     IPR019828 Lysyl_oxidase_CS

    Graphical View of Domain Structure for InterPro Entry Q08397

    ProtoNet protein and cluster: Q08397

    1 Blocks protein domain: IPB001695 Lysyl oxidase

    UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397
    Similarity: Belongs to the lysyl oxidase family


    Find genes that share domains with LOXL1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LOXL1_HUMAN, Q08397
    Function: Active on elastin and collagen substrates (By similarity)

         Genatlas biochemistry entry for LOXL1:
    lysyl oxidase-like,copper dependent

         Enzyme Numbers (IUBMB): EC 1.4.3.-1 EC 1.4.3.132 EC 1.4.32

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0005515protein binding ----
    GO:0016641oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor IEA--
         
    Find genes that share ontologies with LOXL1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Loxl1):
     digestive/alimentary  integument  reproductive system  respiratory system 

    Find genes that share phenotypes with LOXL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Loxl1tm1Tili for LOXL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LOXL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LOXL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LOXL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LOXL1

    miRNA
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    miRTarBase miRNAs that target LOXL1:
    hsa-mir-93-5p (MIRT048881), hsa-mir-193b-3p (MIRT016432), hsa-mir-132-3p (MIRT021720), hsa-mir-124-3p (MIRT022413), hsa-mir-148b-3p (MIRT019362), hsa-mir-335-5p (MIRT017422)

    Block miRNA regulation of human, mouse, rat LOXL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LOXL1 (see all 10):
    hsa-miR-548d-3p hsa-miR-125a-5p hsa-miR-548s hsa-miR-548aa hsa-miR-3926 hsa-miR-544b hsa-miR-125b hsa-miR-670
    SwitchGear 3'UTR luciferase reporter plasmidLOXL1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LOXL1
    Predesigned siRNA for gene silencing in human, mouse, rat LOXL1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: LOXL1 (NM_005576)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LOXL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LOXL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LOXL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LOXL1_HUMAN, Q08397: Secreted, extracellular space (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    lysosome1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS7689553
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with LOXL1           About GenesLikeMe


    (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).
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    SuperPaths for LOXL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen formation0.75
    Crosslinking of collagen fibrils0.00
    Assembly of collagen fibrils and other multimeric structures0.62
    2Elastic fibre formation
    Elastic fibre formation0.73
    3Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with LOXL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for LOXL1
        Crosslinking of collagen fibrils
    Elastic fibre formation


        Pathway & Disease-focused RT2 Profiler PCR Array including LOXL1: 
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LOXL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for LOXL1 (Q083973 ENSP000002619214) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBLN5Q9UBX53, ENSP000003450084I2D: score=2 STRING: ENSP00000345008
    EGFL7Q9UHF13, ENSP000003078434I2D: score=1 STRING: ENSP00000307843
    ELNP155023, ENSP000002520344I2D: score=1 STRING: ENSP00000252034
    NR0B1ENSP000003682534STRING: ENSP00000368253
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018277protein deamination TAS7689553
    GO:0030198extracellular matrix organization TAS--
    GO:0055114oxidation-reduction process TAS7689553

    Find genes that share ontologies with LOXL1           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LOXL1

    1 HMDB Compound for LOXL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LOXL1 gene: 
    NM_005576.2  

    Unigene Cluster for LOXL1:

    Lysyl oxidase-like 1
    Hs.65436  [show with all ESTs]
    Unigene Representative Sequence: BC068542
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566011 ENST00000261921(uc002awc.1) ENST00000566530 ENST00000562548
    ENST00000567675
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LOXL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LOXL1 (see all 10):
    hsa-miR-548d-3p hsa-miR-125a-5p hsa-miR-548s hsa-miR-548aa hsa-miR-3926 hsa-miR-544b hsa-miR-125b hsa-miR-670
    SwitchGear 3'UTR luciferase reporter plasmidLOXL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LOXL1
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    GenScript: all cDNA clones in your preferred vector: LOXL1 (NM_005576)
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    Primer
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    OriGene qPCR primer pairs and template standards for LOXL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LOXL1
      QuantiTect SYBR Green Assays in human, mouse, rat LOXL1
      QuantiFast Probe-based Assays in human, mouse, rat LOXL1

    Additional mRNA sequence: 

    AK303982.1 AK314222.1 BC015090.2 BC068542.1 L21186.1 

    7 DOTS entries:

    DT.413963  DT.121029113  DT.100641037  DT.100714393  DT.100708935  DT.100768375  DT.95337275 

    Selected AceView cDNA sequences (see all 176):

    CD673755 BC015090 CB048078 BE019396 AI365106 CR618115 H54218 BG149392 
    CR598332 CN481594 AU117339 AA304520 AW067796 BU528596 BE220135 CA415703 
    CA392178 AW016354 BI827057 AI750640 AU134751 AL040078 BM847887 AU136556 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LOXL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
    SP1:        -           -                                             
    SP2:                    -                                             
    SP3:                                                                  
    SP4:                                                        -         


    ECgene alternative splicing isoforms for LOXL1

    (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)
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    LOXL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTCTCAT
    LOXL1 Expression
    About this image


    LOXL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Gonad
             Mesonephric cells Mesonephros
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Fibroblasts
             Detroit 551
    LOXL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LOXL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65436

    UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397
    Tissue specificity: Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not
    detected in the retina

        Pathway & Disease-focused RT2 Profiler PCR Array including LOXL1: 
              Prostate Cancer in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat LOXL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LOXL1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LOXL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Loxl11 , 5 lysyl oxidase-like 11, 5 87.05(n)1
    90.77(a)1
      9 (31.65 cM)5
    169491  NM_010729.31  NP_034859.21 
     582877235 
    chicken
    (Gallus gallus)
    Aves LOXL11 lysyl oxidase-like 1 78.67(n)
    80.62(a)
      426411  XM_424060.4  XP_424060.4 
    lizard
    (Anolis carolinensis)
    Reptilia LOXL16
    lysyl oxidase-like 1
    63(a)
    1 ↔ 1
    GL343492.1(356206-386285)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.60742 Xenopus laevis transcribed sequence with moderate similarity more 78.66(n)    48017377 
    zebrafish
    (Danio rerio)
    Actinopterygii loxl11 lysyl oxidase-like 1 60.79(n)
    61.82(a)
      560115  NM_001043325.1  NP_001036790.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lox6
    lox26
    lysyl oxidase-like 2
    31(a)
    25(a)
    many ↔ many
    many ↔ many
    3R(27284102-27285591)
    2R(17677121-17679160)


    ENSEMBL Gene Tree for LOXL1 (if available)
    TreeFam Gene Tree for LOXL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LOXL1 gene
    LOXL22  CD62  CD163L12  LOXL42  CD1632  LOXL32  SSC5D2  PRSS122  
    CD5L2  LOX2  SRCRB4D2  DMBT12  
    1 SIMAP similar gene for LOXL1 using alignment to 2 protein entries:     LOXL1_HUMAN (see all proteins):
    LOX

    Find genes that share paralogs with LOXL1           About GenesLikeMe



    (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)
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    Selected SNPs for LOXL1 (see all 596)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10486611,2,,4
    C,Fother154268393(+) GGCCCG/TGGCCC 2 R L mis1 ese38Minor allele frequency- T:0.41EA MN NA WA EU 2847
    rs38259421,2,,4
    C,F,Hother154268429(+) CGGGGG/ACTCCG 2 /D /G mis1 ese318Minor allele frequency- A:0.22EA NS CSA WA NA EU 7462
    rs556963441,2
    C--51052808(+) AAAAA-/A/AAAAAA
    A
    /AAAAAAAA
    CCTGT
    1 -- int11NA 2
    rs1500257311,2
    C--51055348(+) CCTGA-/CTC   
       ACCGG
    CTCTG
    1 -- int10--------
    rs600715571,2
    C--51055351(+) GACTC-/ACC   
       GGCTC
    TGGCA
    1 -- int10--------
    rs796412491,2
    C--51055355(+) CACCGA/GCTCTG 1 -- int10--------
    rs1472067621,2
    --51055461(+) ATCCC-/TGAC  
      TTCACA
    TGGCC
    1 -- int10--------
    rs58137321,2
    C--51055467(+) ACTTC-/T/TAT 
            
    ACATG
    2 -- int1 cds10--------
    rs30563141,2
    C--51055469(+) CTTCA-/ATC/
     
    /TAT/TC
    CATGG
    3 -- int1 cds10--------
    rs30563421,2
    C--51060222(+) GAGTC-/AGGGGGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for LOXL1 (74218330 - 74244478 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LOXL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1604CNV Insertion18451855
    nsv1603CNV Loss18451855
    nsv428308CNV Gain+Loss18775914
    dgv756e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): LOXL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LOXL1
    DNA2.0 Custom Variant and Variant Library Synthesis for LOXL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 153456   
    OMIM disorders: 177650  
    UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397
  • Exfoliation syndrome (XFS) [MIM:177650]: A disorder characterized by accumulation of abnormal fibrillar
    deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic
    neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and
    systemic vascular complications due to deposition of exfoliation material in extraocular tissues. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to
    exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs
    (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease
    susceptibility in some populations

  • 4 diseases for LOXL1:    
    About MalaCards
    iris disease    exfoliation syndrome    primary angle-closure glaucoma    open-angle glaucoma

    3 diseases from the University of Copenhagen DISEASES database for LOXL1:
    Iris disease     Glaucoma     Hypersensitivity reaction type I disease

    Find genes that share disorders with LOXL1           About GenesLikeMe

    4 Novoseek inferred disease relationships for LOXL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudoexfoliation syndrome 94.5 27 18385788 (2), 18636115 (2), 18201684 (2), 19936304 (2) (see all 13)
    glaucoma open-angle 79.1 17 19373106 (4), 18421074 (2), 19098994 (2), 18636115 (1) (see all 6)
    glaucoma 54.4 29 18974306 (4), 19373106 (4), 18385788 (3), 18809397 (3) (see all 14)
    genetic susceptibility 38.4 5 18385788 (2), 17287949 (1), 19373106 (1)

    Genetic Association Database (GAD): LOXL1
    Human Genome Epidemiology (HuGE) Navigator: LOXL1 (40 documents)

    Export disorders for LOXL1 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

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    PubMed articles for LOXL1 gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with LOXL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. (PubMed id 18037624)1, 2, 4, 9 Hewitt A.W.... Craig J.E. (Hum. Mol. Genet. 2008)
    2. Association of LOXL1 gene with Finnish exfoliation syndrome patients. (PubMed id 19343041)1, 2, 4, 9 Lemmela S.... Jarvela I. (J. Hum. Genet. 2009)
    3. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. (PubMed id 17690259)1, 2, 4 Thorleifsson G....Stefansson K. (Science 2007)
    4. A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25. (PubMed id 7689553)1, 2, 3 Kenyon K.... Friedman R.M. (J. Biol. Chem. 1993)
    5. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. (PubMed id 20431720)1, 4, 9 Williams S.E....Allingham R.R. (Mol. Vis. 2010)
    6. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. (PubMed id 18421074)1, 4, 9 Liu Y....Allingham R.R. (amp 2008)
    7. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. (PubMed id 18385788)1, 4, 9 Aragon-Martin J.A....Sarfarazi M. (Mol. Vis. 2008)
    8. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. (PubMed id 19373106)1, 4, 9 Wolf C....Weisschuh N. (J. Glaucoma 2010)
    9. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. (PubMed id 18552979)1, 4, 9 Mori K....Kinoshita S. (Mol. Vis. 2008)
    10. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. (PubMed id 18334928)1, 4, 9 Challa P....Hauser M.A. (Mol. Vis. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 4016 HGNC: 6665 AceView: LOXL1 Ensembl:ENSG00000129038 euGenes: HUgn4016
    ECgene: LOXL1 H-InvDB: LOXL1

    (According to HUGE)
    About This Section

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      --

    (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

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    NameDescription
    PharmGKB entry for LOXL1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for LOXL1 gene:
    Search GeneIP for patents involving LOXL1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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