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Gene id

4016

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LOXL1 Gene UCSC Ensembl

Aliases

LOL, LOXL

Gene name

lysyl oxidase like 1

Alternate names

lysyl oxidase homolog 1, lysyl oxidase-like protein 1,

Gene location

15q24.1 (73926450: 73952140) Exons: 9 NC_000015.10

Gene summary(Entrez)

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]

OMIM

153456

Protein Summary

Protein general information

Q08397

Name: Lysyl oxidase homolog 1 (EC 1.4.3. ) (Lysyl oxidase like protein 1) (LOL)

Length: 574 Mass: 63,110

Tissue specificity: Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. {ECO

Sequence

MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSESSSRV
LLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMARARTSVSQQR
HGGSASSVSASAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVI
YPYQPRARYEEYGGGEELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQA
HGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVYRPNQNGRGLPDLVPD
PNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLLRFPQRVKNQGTADFLPNRPRHTWEWHSCHQ
HYHSMDEFSHYDLLDAATGKKVAEGHKASFCLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITD
VQPGNYILKVHVNPKYIVLESDFTNNVVRCNIHYTGRYVSATNCKIVQS

Structural information

Interpro:	IPR013783 IPR001695 IPR019828
Prosite:	PS00926
Pfam:	PF01186
STRING:	ENSP00000261921;

Other Databases

GeneCards: LOXL1; Malacards: LOXL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005507	copper ion binding	IEA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0016641	oxidoreductase activity, acting on the CH-NH2 grou p of donors, oxygen as ac ceptor	IEA	molecular_function
GO:0018277	protein deamination	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0035904	aorta development	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005507	copper ion binding	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016641	oxidoreductase activity, acting on the CH-NH2 grou p of donors, oxygen as ac ceptor	IEA	molecular_function
GO:0018277	protein deamination	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0035904	aorta development	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0018277	protein deamination	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component

Diseases

Associated diseases	References
Brain aneurysm	PMID: 17287949
Endometriosis	PMID: 20940247
Exfoliation syndrome	PMID: 18334947
Exfoliation syndrome	OMIM: 153456
Endometriosis	INFBASE20940247

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20940247	Endometrio sis					HTRA1 LOXL1	Show abstract