LOXL1 (lysyl oxidase like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4016
Gene name Lysyl oxidase like 1
Gene symbol LOXL1
Synonyms (NCBI Gene)
LOLLOXL
Chromosome 15
Chromosome location 15q24.1
Summary 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.
17
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
153456 6665 ENSG00000129038
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATHEROSCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (105)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31121900
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21236409
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneurysm, Dissecting Aortic Aneurysm BEFREE 17690546
★★★★★
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 18223248
★★★★★
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma LHGDN 18223248
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 31471532
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 31471532 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 38217541 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 34334119 Stimulate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 17456585
★★★★★
★☆☆☆☆
Found in Text Mining only