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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Exfoliation syndrome, susceptibility to risk factor; Benign rs1048661, rs3825942, rs2165241 RCV000015434
RCV000015435
RCV000015436
LOXL1-related disorder Benign; risk factor; Likely benign rs3825942, rs41429348, rs145943705, rs143555452, rs1301603645, rs78803776, rs140374183 RCV003974828
RCV003921850
RCV003924145
RCV003932243
RCV003964766
RCV003972179
RCV003930471
Uterine carcinosarcoma Benign rs143555452 RCV005938902
Show/Hide Text Mining Associations (51)
Associations from Text MiningDisease 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