Human Gene LOXL1 (ENST00000261921.8) from GENCODE V44
Description: Homo sapiens lysyl oxidase like 1 (LOXL1), mRNA. (from RefSeq NM_005576) RefSeq Summary (NM_005576): 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]. Gencode Transcript: ENST00000261921.8 Gencode Gene: ENSG00000129038.16 Transcript (Including UTRs) Position: hg38 chr15:73,926,462-73,952,136 Size: 25,675 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr15:73,926,784-73,951,837 Size: 25,054 Coding Exon Count: 7
ID:LOXL1_HUMAN DESCRIPTION: RecName: Full=Lysyl oxidase homolog 1; EC=1.4.3.-; AltName: Full=Lysyl oxidase-like protein 1; Short=LOL; Flags: Precursor; FUNCTION: Active on elastin and collagen substrates (By similarity). COFACTOR: Copper (By similarity). COFACTOR: Contains 1 lysine tyrosylquinone (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space (Potential). TISSUE SPECIFICITY: Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. PTM: 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. DISEASE: 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. SIMILARITY: Belongs to the lysyl oxidase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q08397
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005507 copper ion binding GO:0016491 oxidoreductase activity GO:0016641 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor GO:0046872 metal ion binding
Biological Process: GO:0018277 protein deamination GO:0032496 response to lipopolysaccharide GO:0035904 aorta development GO:0055114 oxidation-reduction process
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