Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

LOXL1 Gene

protein-coding   GIFtS: 59
GCID: GC15P074218

lysyl oxidase-like 1
 Explore 26 diseases affiliated with
LOXL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LOXL1    

Aliases
for LOXL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Lysyl Oxidase-Like 11 2     Lysyl Oxidase Homolog 12
LOXL1 2 3 5     EC 1.4.3.-3
LOL1 2 3     EC 1.4.38
Lysyl Oxidase-Like Protein 12 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


Summaries
for LOXL1 gene

(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 LOXL1:
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)

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

Gene Wiki entry for LOXL1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LOXL1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LOXL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LOXL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for LOXL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Secreted, extracellular space (Potential)
Secondary accessions: Q6NUL3 Q96BW7

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08397

    • 4/8 DME Specific Peptides for LOXL1 (Q08397) (see all 8)
     ESDFTNN  QASTYVQ  PGNYILKV  GLPDLVPDP 

    LOXL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005567.2  
    ENSEMBL proteins: 
     ENSP00000457827   ENSP00000261921  
    Reactome Protein details: Q08397
    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
    OriGene Protein Over-expression Lysate: LOXL1
    OriGene Custom Protein Services for LOXL1 
    GenScript Custom Purified and Recombinant Proteins Services for LOXL1
    Novus Biologicals LOXL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for LOXL1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    LOXL1 for ontologies           About GeneDecksing



    LOXL1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): LOXL1
    OriGene Custom Antibody Services for LOXL1 
    GenScript Custom Superior Antibodies Services for LOXL1
    Novus Biologicals LOXL1 Antibodies
    Search for Antibodies for LOXL1 at Abcam  
    Uscn Antibodies for LOXL1
    Search ThermoFisher Antibodies for LOXL1

    Assay Products for LOXL1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LOXL1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for LOXL1

    Protein Domains /
    Families
    for LOXL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LOXL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001695 Lysyl_oxidase
     IPR019828 Lysyl_oxidase_CS

    Graphical View of Domain Structure for InterPro Entry Q08397

    ProtoNet protein and cluster: Q08397

    1 Blocks protein family: IPB001695 Lysyl oxidase

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


    Function
    for LOXL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: LOXL1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LOXL1
    8/10 QIAGEN miScript miRNA 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 plasmid: LOXL1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LOXL1 (see all 7)
    OriGene shRNA RFP: LOXL1
    OriGene siRNA: LOXL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LOXL1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for LOXL1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for LOXL1
    Search LifeMap BioReagents cell lines for LOXL1

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

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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--


    LOXL1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Loxl1tm1Tili for LOXL1
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Loxl1):
     digestive/alimentary  integument  reproductive system  respiratory system 

    LOXL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for LOXL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Assembly of collagen fibrils and other multimeric structures0.65
    2Elastic fibre formation
    		Elastic fibre formation1.00
    3Crosslinking of collagen fibrils
    		Crosslinking of collagen fibrils1.00
    4Tropoelastin associates with microfibrils
    		Elastin cross-linking by lysyl oxidase0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for LOXL1 (see all 6)
        Extracellular matrix organization
    Assembly of collagen fibrils and other multimeric structures
    Crosslinking of collagen fibrils
    Elastic fibre formation
    Collagen formation



    LOXL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LOXL1

    STRING Interaction Network Preview (showing 3 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
    ELNP155023, ENSP000002520344I2D: score=1 STRING: ENSP00000252034
    EGFL7Q9UHF13I2D: score=1 
    NR0B1ENSP000003682534STRING: ENSP00000368253
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018277protein deamination TAS7689553
    GO:0055114oxidation-reduction process TAS7689553


    LOXL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for LOXL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 LOXL1

    1 HMDB Compound for LOXL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    Search CenterWatch for drugs/clinical trials and news about LOXL1 

    Transcripts
    for LOXL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone: LOXL1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LOXL1
    8/10 QIAGEN miScript miRNA 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 plasmid: LOXL1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LOXL1 (see all 7)
    OriGene shRNA RFP: LOXL1
    OriGene siRNA: LOXL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LOXL1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: LOXL1 (NM_005576)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LOXL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LOXL1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LOXL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LOXL1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LOXL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LOXL1

    Additional cDNA 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 

    24/176 AceView cDNA sequences (see all 176):

    BU528596 AU117339 AA304520 CR598332 CN481594 H54218 CD673755 BC015090 
    CB048078 BE019396 AI365106 CR618115 BG149392 AW067796 BM693817 AL562660 
    NM_005576 AI753356 BU622796 BX337918 AU280099 AU145669 AL529650 CA441881 

    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

    Expression
    for LOXL1 gene

    (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

    LOXL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCTCTCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LOXL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)

    See LOXL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LOXL1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including LOXL1: 
              Prostate Cancer in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LOXL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LOXL1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LOXL1
    QIAGEN 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
    for LOXL1 gene

    (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 LOXL1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOXL11 lysyl oxidase-like 1 77.57(n)
    79.2(a)    		   426411  XM_424060.3  XP_424060.3 
    lizard
    (Anolis carolinensis)    		 Reptilia LOXL16
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343492.1(356594-375746)
    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 63.05(n)
    66.06(a)    		   560115  NM_001043325.1  NP_001036790.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta lox6
    		 lysyl oxidase-like
    		 26(a)
    		 possible ortholog
    		 3R(27284102-27285591)


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

    Paralogs
    for LOXL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LOXL1 gene
    LOXL22  CD62  CD163L12  LOXL42  LOXL32  CD1632  SSC5D2  PRSS122  
    CD5L2  LOX2  SRCRB4D2  LOC6192072  
    1 SIMAP similar gene for LOXL1 using alignment to 2 protein entries:     LOXL1_HUMAN (see all proteins):
    LOX

    LOXL1 for paralogs           About GeneDecksing



    Genomic Variants
    for LOXL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/486 NCBI SNPs in LOXL1 are shown (see all 486)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38259421,2
    		C,F,H,other51330750(+) CGGGGG/ACTCCG 2 /D /G mis1 ese318Minor allele frequency- A:0.22EA NS CSA WA NA EU 7462
    rs10486611,2
    		C,F,other51330786(+) GGCCCG/TGGCCC 2 R L mis1 ese38Minor allele frequency- T:0.41EA MN NA WA EU 2847
    rs284373671,2
    		C,F,--51048639(+) CTGTCC/TGAGTC 1 -- us2k16Minor allele frequency- T:0.09NA WA CSA 246
    rs767122241,2
    		C,F,--51048910(+) CCCGGC/ACCTCA 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs118526041,2
    		C,F,H,--51049203(+) AAAGAA/GTGTCC 1 -- us2k18Minor allele frequency- G:0.10NS NA WA 914
    rs793483801,2
    		C,--51050005(+) TTCCTA/TTTGAG 1 -- us2k10--------
    rs169584771,2
    		C,F,H,--51050152(+) GCCCAA/CACGAG 1 -- us2k122Minor allele frequency- C:0.19MN EA NS NA WA 2722
    rs798997061,2
    		C,--51050339(+) GGCTTG/TGCTGG 1 -- us2k10--------
    rs756302781,2
    		C,--51050703(+) AGCTGG/TGGCAA 1 -- ut510--------
    rs1115752891,2
    		C,--51050758(+) CCCAGA/GGGGCC 1 -- ut510--------

    HapMap Linkage Disequilibrium report for LOXL1 (74218330 - 74244478 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for LOXL1
         1 CNV: 3968
    Human Gene Mutation Database (HGMD): LOXL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LOXL1
    DNA2.0 Custom Variant and Variant Library Synthesis for LOXL1

    Disorders / Diseases
    for LOXL1 gene

    (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.)
    About This Section
    LOXL1 for disorders           About GeneDecksing

    OMIM gene information: 153456   
    OMIM disorders: 177650  
    UniProtKB/Swiss-Prot: LOXL1_HUMAN, Q08397
  • Genetic variations in LOXL1 are a cause of susceptibility to exfoliation syndrome (XFS) [MIM:177650]; also
    • called exfoliation glaucoma (XFG). XFS is 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=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

    20/26 diseases for LOXL1 (see all 26):    About MalaCards
    angle-closure glaucoma    open-angle glaucoma    primary angle-closure glaucoma    pigment dispersion syndrome
    primary open angle glaucoma    age related macular degeneration    exfoliation syndrome    cutis laxa
    glaucoma    venous insufficiency    macular degeneration    intracranial aneurysm
    allergic rhinitis    eye disease    scoliosis    hernia
    vascular disease    rhinitis    cataract    homocysteine

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: LOXL1 (40 documents)

    Export disorders for LOXL1 gene to outside databases

    Publications
    for LOXL1 gene

    (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 LOXL1 gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with LOXL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (1993)
    2. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. (PubMed id 18037624)1, 2, 9 Hewitt A.W....Craig J.E. (2008)
    3. Association of LOXL1 gene with Finnish exfoliation syndrome patients. (PubMed id 19343041)1, 2, 9 LemmelAo S....JAorvelAo I. (2009)
    4. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. (PubMed id 17690259)1, 2 Thorleifsson G....Stefansson K. (2007)
    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. Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. (PubMed id 18974306)1, 9 Schlotzer-Schrehardt U....Zenkel M. (2008)
    7. Major LOXL1 risk allele is reversed in exfoliation gl aucoma in a black South African population. (PubMed id 20431720)1, 9 Williams S.E....Allingham R.R. (2010)
    8. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. (PubMed id 18421074)1, 9 Liu Y....Allingham R.R. (2008)
    9. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. (PubMed id 18385788)1, 9 Aragon-Martin J.A....Sarfarazi M. (2008)
    10. Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma. (PubMed id 19373106)1, 9 Wolf C....Weisschuh N. (2009)

    External Searches for LOXL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing LOXL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4016 HGNC: 6665 AceView: LOXL1 Ensembl:ENSG00000129038 euGenes: HUgn4016
    ECgene: LOXL1 H-InvDB: LOXL1

    Other Databases showing LOXL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LOXL1 gene

    (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 LOXL1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for LOXL1 gene

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



    Products
    for LOXL1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for LOXL1   OriGene shRNA RFP for LOXL1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LOXL1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LOXL1  
     OriGene Protein Over-expression Lysate for LOXL1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for LOXL1   OriGene 3'-UTR Clone for LOXL1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LOXL1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for LOXL1   OriGene Custom Protein Services for LOXL1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LOXL1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LOXL1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LOXL1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LOXL1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LOXL1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LOXL1
     GenScript Custom Purified and Recombinant Proteins Services for LOXL1 GenScript cDNA clones with any tag delivered in your preferred vector for LOXL1
     GenScript Custom Assay Services for LOXL1 GenScript Custom Superior Antibodies Services for LOXL1
     GenScript Custom overexpressing Cell Line Services for LOXL1 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

     Regulatory tfbs in LOXL1 promoter
     Search Chromatin IP Primers for LOXL1
     RT2 qPCR Primer Assay in human, mouse, rat LOXL1
     GNC Network for LOXL1
     SABiosciences PCR Arrays including human, mouse, rat LOXL1
     Search Tocris compounds for LOXL1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     LOXL1 antibodies
     LOXL1 lysates
     Search for Antibodies for LOXL1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for LOXL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     LOXL1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for LOXL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LOXL1
     SwitchGear 3'UTR luciferase reporter plasmids for LOXL1
     SwitchGear Promoter luciferase reporter plasmids for LOXL1
     Search ThermoFisher Antibodies for LOXL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LOXL1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      LOXL1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4