LOXL1 (lysyl oxidase like 1)

Gene

• Entrez ID: 4016
• Gene name: Lysyl oxidase like 1
• Gene symbol: LOXL1
• Synonyms: LOL, LOXL
• 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

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
MIRT048881	hsa-miR-93-5p	CLASH	23622248
MIRT2032454	hsa-miR-1207-5p	CLIP-seq
MIRT2032455	hsa-miR-125a-5p	CLIP-seq
MIRT2032456	hsa-miR-125b	CLIP-seq
MIRT2032457	hsa-miR-4270	CLIP-seq
MIRT2032458	hsa-miR-4319	CLIP-seq
MIRT2032459	hsa-miR-4441	CLIP-seq
MIRT2032460	hsa-miR-4649-3p	CLIP-seq
MIRT2032461	hsa-miR-4732-3p	CLIP-seq
MIRT2032462	hsa-miR-4763-3p	CLIP-seq
MIRT2032463	hsa-miR-544b	CLIP-seq
MIRT2032464	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004720	Function	Protein-lysine 6-oxidase activity	IBA	21873635
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	27339457
GO:0005576	Component	Extracellular region	TAS	7689553
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0018057	Process	Peptidyl-lysine oxidation	IBA	21873635
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0018277	Process	Protein deamination	TAS	7689553
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	IBA	21873635
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035904	Process	Aorta development	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27068509, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380, 28327460

Other IDs

• MIM: 153456
• HGNC: 6665
• e!Ensembl: ENSG00000129038

Protein

• 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

• Sequence:

  MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSE
  YVPAGPQRSESSSRVLLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFG
  FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSASAFASTYRQQPSYPQQFPYP
  QAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
  EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQA
  HGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVY
  RPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLL
  RFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASF
  CLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPK
  YIVLESDFTNNVVRCNIHYTGRYVSATNCKIVQS

• Sequence length: 574

Pathways

Reactome:

Elastic fibre formation
Crosslinking of collagen fibrils

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Exfoliation syndrome	Exfoliation Syndrome, NON RARE IN EUROPE: Exfoliation syndrome	rs1048661, rs2165241	28553957, 17690259, 25706626, 29278698, 24938310
Glaucoma	Glaucoma, Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	17690259, 20835238

Unknown
Disease name	Disease term	dbSNP ID	References
Urinary bladder cancer	Malignant neoplasm of urinary bladder		17456585
Bladder neoplasm	Bladder Neoplasm		17456585
Diverticular diseases	Diverticular Diseases		30177863
Lens subluxation	Lens Subluxation
Liver cirrhosis	Liver Cirrhosis		30097701
Liver fibrosis	Fibrosis, Liver		30097701
Phacodonesis	Phacodonesis
Retinal vein occlusion	Retinal Vein Occlusion