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Aliases for LOXL1 Gene

Aliases for LOXL1 Gene

  • Lysyl Oxidase Like 1 2 3 5
  • Lysyl Oxidase-Like Protein 1 3 4
  • LOXL 3 4
  • LOL 3 4
  • Lysyl Oxidase Homolog 1 3
  • Lysyl Oxidase-Like 1 2
  • EC 1.4.3.- 4

External Ids for LOXL1 Gene

Previous GeneCards Identifiers for LOXL1 Gene

  • GC15P070239
  • GC15P067334
  • GC15P071794
  • GC15P071934
  • GC15P072005
  • GC15P074218
  • GC15P051050

Summaries for LOXL1 Gene

Entrez Gene Summary for LOXL1 Gene

  • This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. 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. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

GeneCards Summary for LOXL1 Gene

LOXL1 (Lysyl Oxidase Like 1) is a Protein Coding gene. Diseases associated with LOXL1 include Exfoliation Syndrome and Phacogenic Glaucoma. Among its related pathways are Collagen chain trimerization and Elastic fibre formation. Gene Ontology (GO) annotations related to this gene include copper ion binding and oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor. An important paralog of this gene is LOX.

UniProtKB/Swiss-Prot for LOXL1 Gene

  • Active on elastin and collagen substrates.

Gene Wiki entry for LOXL1 Gene

Additional gene information for LOXL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOXL1 Gene

Genomics for LOXL1 Gene

GeneHancer (GH) Regulatory Elements for LOXL1 Gene

Promoters and enhancers for LOXL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J073919 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.5 -0.1 -83 12.4 PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF143 FOS REST ZNF662 ZFP41 LOXL1 EDC3 LOXL1-AS1 LOC102723657 FAM219B LOC732265 LOC105370890 REC114 CD276 GOLGA6A
GH15J074380 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +466.7 466671 24.1 ZFP64 IRF4 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC ZC3H11A MEF2D CYP11A1 EDC3 ENSG00000260274 CLK3 MAN2C1 COMMD4 LOC101929333 SEMA7A ENSG00000212279 LOXL1
GH15J073950 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.8 +25.8 25822 3.5 HDGF ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 RUNX3 RXRA MIER2 LOXL1 STOML1 PML EDC3 STRA6 LOXL1-AS1
GH15J073955 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 12.2 +30.7 30747 2.7 USF1 JUN MAX ZMYM3 ZFHX2 POLR2A RCOR1 FOSL2 FOS CHD2 PML STOML1 LOXL1 LOXL1-AS1
GH15J073964 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +39.7 39664 2.6 HDGF PKNOX1 RB1 KLF17 SIN3A BATF ZNF2 KLF5 IRF4 ZNF48 STOML1 PML EDC3 LOC101929333 TBC1D21 LOXL1 CLK3 C15orf59 LOXL1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOXL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LOXL1 gene promoter:

Genomic Locations for LOXL1 Gene

Genomic Locations for LOXL1 Gene
chr15:73,925,989-73,952,137
(GRCh38/hg38)
Size:
26,149 bases
Orientation:
Plus strand
chr15:74,218,330-74,244,478
(GRCh37/hg19)

Genomic View for LOXL1 Gene

Genes around LOXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXL1 Gene

Proteins for LOXL1 Gene

  • Protein details for LOXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08397-LOXL1_HUMAN
    Recommended name:
    Lysyl oxidase homolog 1
    Protein Accession:
    Q08397
    Secondary Accessions:
    • Q6NUL3
    • Q96BW7

    Protein attributes for LOXL1 Gene

    Size:
    574 amino acids
    Molecular mass:
    63110 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489;
    Quaternary structure:
    No Data Available

neXtProt entry for LOXL1 Gene

Post-translational modifications for LOXL1 Gene

  • 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 tyrosine.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LOXL1 Gene

No data available for DME Specific Peptides for LOXL1 Gene

Domains & Families for LOXL1 Gene

Gene Families for LOXL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for LOXL1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LOXL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08397

UniProtKB/Swiss-Prot:

LOXL1_HUMAN :
  • Belongs to the lysyl oxidase family.
Family:
  • Belongs to the lysyl oxidase family.
genes like me logo Genes that share domains with LOXL1: view

Function for LOXL1 Gene

Molecular function for LOXL1 Gene

UniProtKB/Swiss-Prot Function:
Active on elastin and collagen substrates.
GENATLAS Biochemistry:
lysyl oxidase-like,copper dependent

Enzyme Numbers (IUBMB) for LOXL1 Gene

Phenotypes From GWAS Catalog for LOXL1 Gene

Gene Ontology (GO) - Molecular Function for LOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004720 protein-lysine 6-oxidase activity IBA --
GO:0005507 copper ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016641 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LOXL1: view
genes like me logo Genes that share phenotypes with LOXL1: view

Animal Models for LOXL1 Gene

MGI Knock Outs for LOXL1:
  • Loxl1 Loxl1<tm1.1(KOMP)Vlcg>
  • Loxl1 Loxl1<tm1Tili>

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LOXL1 Gene

Localization for LOXL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXL1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LOXL1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005576 extracellular region TAS 7689553
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with LOXL1: view

Pathways & Interactions for LOXL1 Gene

genes like me logo Genes that share pathways with LOXL1: view

Gene Ontology (GO) - Biological Process for LOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IBA --
GO:0018277 protein deamination TAS 7689553
GO:0030198 extracellular matrix organization TAS --
GO:0030199 collagen fibril organization IBA --
GO:0032496 response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with LOXL1: view

No data available for SIGNOR curated interactions for LOXL1 Gene

Drugs & Compounds for LOXL1 Gene

(1) Drugs for LOXL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 202
genes like me logo Genes that share compounds with LOXL1: view

Transcripts for LOXL1 Gene

mRNA/cDNA for LOXL1 Gene

Unigene Clusters for LOXL1 Gene

Lysyl oxidase-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOXL1 Gene

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

Relevant External Links for LOXL1 Gene

GeneLoc Exon Structure for
LOXL1
ECgene alternative splicing isoforms for
LOXL1

Expression for LOXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LOXL1 Gene

This gene is overexpressed in Artery - Aorta (x7.9).

Protein differential expression in normal tissues from HIPED for LOXL1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (18.7), Lung (16.5), Gallbladder (14.2), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LOXL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LOXL1 Gene:

LOXL1

SOURCE GeneReport for Unigene cluster for LOXL1 Gene:

Hs.65436

mRNA Expression by UniProt/SwissProt for LOXL1 Gene:

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

Evidence on tissue expression from TISSUES for LOXL1 Gene

  • Lung(4.5)
  • Skin(4.4)
  • Nervous system(4.4)
  • Eye(2.6)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with LOXL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOXL1 Gene

Orthologs for LOXL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LOXL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOXL1 34 33
  • 98.72 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOXL1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOXL1 34 33
  • 89.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Loxl1 16 34 33
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Loxl1 33
  • 85.71 (n)
oppossum
(Monodelphis domestica)
Mammalia LOXL1 34
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOXL1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOXL1 34 33
  • 78.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOXL1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loxl1 33
  • 59.85 (n)
Str.17733 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6074 33
zebrafish
(Danio rerio)
Actinopterygii loxl1 34 33
  • 60.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lox 34
  • 31 (a)
ManyToMany
lox2 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for LOXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LOXL1 Gene

ENSEMBL:
Gene Tree for LOXL1 (if available)
TreeFam:
Gene Tree for LOXL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LOXL1: view image

Paralogs for LOXL1 Gene

Paralogs for LOXL1 Gene

(1) SIMAP similar genes for LOXL1 Gene using alignment to 2 proteins:

  • LOXL1_HUMAN
  • H3BUV8_HUMAN
genes like me logo Genes that share paralogs with LOXL1: view

Variants for LOXL1 Gene

Sequence variations from dbSNP and Humsavar for LOXL1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1048661 risk-factor, Exfoliation syndrome, susceptibility to 73,927,205(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs2165241 risk-factor, Exfoliation syndrome, susceptibility to 73,929,861(+) T/C genic_upstream_transcript_variant, intron_variant
rs3825942 risk-factor, Exfoliation syndrome, susceptibility to 73,927,241(+) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000079370 -- 73,946,057(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000176179 -- 73,933,169(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LOXL1 Gene

Variant ID Type Subtype PubMed ID
esv2760040 CNV gain+loss 17122850
esv3581762 CNV loss 25503493
nsv1121512 CNV deletion 24896259
nsv1603 CNV deletion 18451855
nsv1604 CNV insertion 18451855
nsv428308 CNV gain+loss 18775914
nsv951992 CNV deletion 24416366

Variation tolerance for LOXL1 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.47; 97.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LOXL1 Gene

Human Gene Mutation Database (HGMD)
LOXL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOXL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXL1 Gene

Disorders for LOXL1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for LOXL1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
exfoliation syndrome
  • xfs
phacogenic glaucoma
open-angle glaucoma
  • glaucoma simplex
iris disease
  • iris diseases
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search LOXL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LOXL1_HUMAN
  • 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. {ECO:0000269 PubMed:18037624, ECO:0000269 PubMed:19343041}. 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.

Additional Disease Information for LOXL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LOXL1: view

No data available for Genatlas for LOXL1 Gene

Publications for LOXL1 Gene

  1. Association of LOXL1 gene with Finnish exfoliation syndrome patients. (PMID: 19343041) Lemmelä S … Järvelä I (Journal of human genetics 2009) 3 4 22 44 58
  2. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. (PMID: 18037624) Hewitt AW … Craig JE (Human molecular genetics 2008) 3 4 22 44 58
  3. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. (PMID: 19373106) Wolf C … Weisschuh N (Journal of glaucoma 2010) 3 22 44 58
  4. Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. (PMID: 20142848) Chen H … Pang CP (Molecular vision 2010) 3 22 44 58
  5. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. (PMID: 20431720) Williams SE … Allingham RR (Molecular vision 2010) 3 22 44 58

Products for LOXL1 Gene

Sources for LOXL1 Gene

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