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Aliases for LOXL1 Gene

Aliases for LOXL1 Gene

  • Lysyl Oxidase-Like 1 2 3
  • LOXL 3 4 6
  • Lysyl Oxidase-Like Protein 1 3 4
  • LOL 3 4
  • Lysyl Oxidase Homolog 1 3
  • EC 1.4.3.13 63
  • EC 1.4.3.- 4
  • EC 1.4.3 63

External Ids for LOXL1 Gene

Summaries for LOXL1 Gene

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 exfoliation syndrome and iris disease. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. 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 PRSS12.

UniProtKB/Swiss-Prot for LOXL1 Gene

  • Active on elastin and collagen substrates.

Gene Wiki entry for LOXL1 Gene

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

Genomics for LOXL1 Gene

Genomic Location for LOXL1 Gene

Start:
73,925,989 bp from pter
End:
73,952,137 bp from pter
Size:
26,149 bases
Orientation:
Plus strand

Genomic View for LOXL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LOXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXL1 Gene

Regulatory Elements for LOXL1 Gene

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

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; Note=Contains 1 lysine tyrosylquinone.;
    Quaternary structure:
    No Data Available

neXtProt entry for LOXL1 Gene

Proteomics data for LOXL1 Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for LOXL1 Gene

Protein Domains for LOXL1 Gene

InterPro:
Blocks:
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
Family:
  • Belongs to the lysyl oxidase family.:
    • Q08397
genes like me logo Genes that share domains with LOXL1: view

No data available for Gene Families for LOXL1 Gene

Function for LOXL1 Gene

Molecular function for LOXL1 Gene

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

Enzyme Numbers (IUBMB) for LOXL1 Gene

Gene Ontology (GO) - Molecular Function for LOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding --
GO:0016641 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor 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:

No data available for Transcription Factor Targeting 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
Jensen Localization Image for LOXL1 Gene COMPARTMENTS Subcellular localization image for LOXL1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
lysosome 1
peroxisome 1

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:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with LOXL1: view

Pathways 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:0018277 protein deamination TAS 7689553
GO:0030198 extracellular matrix organization TAS --
GO:0032496 response to lipopolysaccharide IEA --
GO:0035904 aorta development IEA --
GO:0055114 oxidation-reduction process TAS 7689553
genes like me logo Genes that share ontologies with LOXL1: view

Compounds for LOXL1 Gene

(1) HMDB Compounds for LOXL1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8
genes like me logo Genes that share compounds with LOXL1: view

Transcripts for LOXL1 Gene

Unigene Clusters for LOXL1 Gene

Lysyl oxidase-like 1:
Representative Sequences:

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 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 (7.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LOXL1 Gene

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.
genes like me logo Genes that share expressions with LOXL1: view

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 35
  • 98.72 (n)
  • 99.13 (a)
LOXL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOXL1 35
  • 89.56 (n)
  • 90.09 (a)
LOXL1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOXL1 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Loxl1 35
  • 87.05 (n)
  • 90.77 (a)
Loxl1 16
Loxl1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LOXL1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOXL1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Loxl1 35
  • 85.71 (n)
  • 89.9 (a)
chicken
(Gallus gallus)
Aves LOXL1 35
  • 78.67 (n)
  • 80.62 (a)
LOXL1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOXL1 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6074 35
tropical clawed frog
(Silurana tropicalis)
Amphibia loxl1 35
  • 59.85 (n)
  • 64.68 (a)
Str.17733 35
zebrafish
(Danio rerio)
Actinopterygii loxl1 35
  • 60.79 (n)
  • 61.82 (a)
loxl1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lox 36
  • 31 (a)
ManyToMany
lox2 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for LOXL1:
  • 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)

Paralogs for LOXL1 Gene

Paralogs for LOXL1 Gene

Selected SIMAP similar genes for LOXL1 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs3522 -- 73,952,003(+) CCGGA(C/T)GCCAG utr-variant-3-prime
rs8818 -- 73,951,937(+) AGGCA(C/G)GGAGG utr-variant-3-prime
rs750460 -- 73,949,165(-) CTGCC(C/T)GAGGG intron-variant
rs893815 -- 73,935,823(+) GGTGG(C/G)GTGGA intron-variant
rs893816 -- 73,936,123(+) ACAGA(C/T)GGCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1603 CNV Loss 18451855
nsv1604 CNV Insertion 18451855
dgv756e1 CNV Complex 17122850
nsv428308 CNV Gain+Loss 18775914

Relevant External Links for LOXL1 Gene

HapMap Linkage Disequilibrium report
LOXL1
Human Gene Mutation Database (HGMD)
LOXL1

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

Disorders for LOXL1 Gene

(1) OMIM Diseases for LOXL1 Gene (153456)

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.

(3) University of Copenhagen DISEASES for LOXL1 Gene

(4) Novoseek inferred disease relationships for LOXL1 Gene

Disease -log(P) Hits PubMed IDs
pseudoexfoliation syndrome 94.5 18
glaucoma open-angle 79.1 11
glaucoma 54.4 29
genetic susceptibility 38.4 4

Relevant External Links for LOXL1

Genetic Association Database (GAD)
LOXL1
Human Genome Epidemiology (HuGE) Navigator
LOXL1
genes like me logo Genes that share disorders with LOXL1: view

Publications for LOXL1 Gene

  1. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. (PMID: 18037624) Hewitt A.W. … Craig J.E. (Hum. Mol. Genet. 2008) 3 4 23 48
  2. Association of LOXL1 gene with Finnish exfoliation syndrome patients. (PMID: 19343041) Lemmela S. … Jarvela I. (J. Hum. Genet. 2009) 3 4 23 48
  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. (J. Glaucoma 2010) 3 23 48
  4. Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. (PMID: 19503743) Lee K.Y. … Vithana E.N. (Mol. Vis. 2009) 3 23 48
  5. Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection. (PMID: 17690546) KuhlenbAoumer G. … Ringelstein B. (Cerebrovasc. Dis. 2007) 3 23 48

Products for LOXL1 Gene

Sources for LOXL1 Gene

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