LOXL1 (lysyl oxidase like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4016
Gene name Gene Name - the full gene name approved by the HGNC.
Lysyl oxidase like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LOXL1
Synonyms (NCBI Gene) Gene synonyms aliases
LOL, LOXL
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.1
Summary Summary of gene provided in NCBI Entrez 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 form
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
miRTarBase ID miRNA Experiments Reference
MIRT016432 hsa-miR-193b-3p Microarray 20304954
MIRT017422 hsa-miR-335-5p Microarray 18185580
MIRT019362 hsa-miR-148b-3p Microarray 17612493
MIRT021720 hsa-miR-132-3p Microarray 17612493
MIRT022413 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0004720 Function Protein-lysine 6-oxidase activity IBA
GO:0004720 Function Protein-lysine 6-oxidase activity IEA
GO:0004720 Function Protein-lysine 6-oxidase activity ISS
GO:0005507 Function Copper ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
153456 6665 ENSG00000129038
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q08397
Protein name Lysyl oxidase homolog 1 (EC 1.4.3.13) (Lysyl oxidase-like protein 1) (LOL)
Protein function Catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, resulting in the formation of covalent cross-linkages, and the stabilization of collagen and elastin fibers (By similarity). Essential for the elas
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01186 Lysyl_oxidase 370 → 571 Lysyl oxidase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. {ECO:0000269|PubMed:18037624}.
Sequence 
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSE
YVPAGPQRSESSSRVLLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFG
FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSASAFASTYRQQPSYPQQFPYP
QAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQA
HGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVY
RPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLL
RFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASF
CLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPK
YIVLESDFTNNVVRCNIHYTGRYVSATNCKIVQS
Sequence length 574
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Elastic fibre formation
Crosslinking of collagen fibrils
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Exfoliation Syndrome Exfoliation syndrome, susceptibility to, Exfoliation syndrome N/A N/A ClinVar, GWAS
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31758653
Alopecia Associate 36458379
Aortic Aneurysm Thoracic Associate 31471532
Arthritis Rheumatoid Stimulate 38217541
Atherosclerosis Stimulate 34334119
Benign Paroxysmal Positional Vertigo Associate 32827243
Breast Neoplasms Associate 31841194
Carcinogenesis Associate 31758653, 39340995
Carcinoma Adenoid Cystic Associate 21692051
Carcinoma Hepatocellular Associate 34863279