Q08397 (LOXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lysyl oxidase homolog 1
EC=1.4.3.-

Alternative name(s):
Lysyl oxidase-like protein 1
Short name=LOL

Gene names

Name:	LOXL1
Synonyms:	LOXL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	574 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Active on elastin and collagen substrates By similarity.
Cofactor	Copper By similarity. Contains 1 lysine tyrosylquinone By similarity.
Subcellular location	Secreted › extracellular space Potential.
Tissue specificity	Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. Ref.7
Post-translational modification	The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.
Involvement in disease	Exfoliation syndrome (XFS) [MIM:177650]: A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease susceptibility in some populations. Ref.6
Sequence similarities	Belongs to the lysyl oxidase family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Glaucoma
Domain	Signal
Ligand	Copper Metal-binding
Molecular function	Oxidoreductase
PTM	Cleavage on pair of basic residues Disulfide bond LTQ TPQ
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	oxidation-reduction process Traceable author statement Ref.1. Source: UniProtKB protein deamination Traceable author statement Ref.1. Source: UniProtKB
Cellular_component	extracellular matrix Inferred from electronic annotation. Source: Compara extracellular region Traceable author statement Ref.1. Source: UniProtKB extracellular space Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	copper ion binding Inferred from electronic annotation. Source: InterPro oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Propeptide	26 – 94	69	By similarity		PRO_0000018528
	Chain	95 – 574	480	Lysyl oxidase homolog 1		PRO_0000018529
Regions
	Region	370 – 574	205	Lysyl-oxidase like
	Compositional bias	261 – 267	7	Poly-Pro
Sites
	Metal binding	449	1	Copper Potential
	Metal binding	451	1	Copper Potential
	Metal binding	453	1	Copper Potential
Amino acid modifications
	Modified residue	512	1	2',4',5'-topaquinone By similarity
	Disulfide bond	395 ↔ 401		By similarity
	Disulfide bond	448 ↔ 497		By similarity
	Disulfide bond	481 ↔ 487		By similarity
	Disulfide bond	508 ↔ 518		By similarity
	Disulfide bond	555 ↔ 569		By similarity
	Cross-link	477 ↔ 512		Lysine tyrosylquinone (Lys-Tyr) By similarity
Natural variations
	Natural variant	141	1	R → L Associated with exfoliation syndrome in the presence of D-153. Ref.1 Ref.2 Ref.6 Ref.7 Ref.8 Ref.9 Corresponds to variant rs1048661 [ dbSNP | Ensembl ].		VAR_028436
	Natural variant	153	1	G → D Associated with exfoliation syndrome in the presence of L-141. Ref.3 Ref.5 Ref.6 Ref.7 Ref.9 Corresponds to variant rs3825942 [ dbSNP | Ensembl ].		VAR_022135

Sequences

	Sequence		Length	Mass (Da)
	Q08397 [UniParc]. Last modified February 26, 2008. Version 2. Checksum: 7570FEFB3E09066D	FASTA	574	63,110
	10 20 30 40 50 60 MALARGSRQL GALVWGACLC VLVHGQQAQP GQGSDPARWR QLIQWENNGQ VYSLLNSGSE 70 80 90 100 110 120 YVPAGPQRSE SSSRVLLAGA PQAQQRRSHG SPRRRQAPSL PLPGRVGSDT VRGQARHPFG 130 140 150 160 170 180 FGQVPDNWRE VAVGDSTGMA RARTSVSQQR HGGSASSVSA SAFASTYRQQ PSYPQQFPYP 190 200 210 220 230 240 QAPFVSQYEN YDPASRTYDQ GFVYYRPAGG GVGAGAAAVA SAGVIYPYQP RARYEEYGGG 250 260 270 280 290 300 EELPEYPPQG FYPAPERPYV PPPPPPPDGL DRRYSHSLYS EGTPGFEQAY PDPGPEAAQA 310 320 330 340 350 360 HGGDPRLGWY PPYANPPPEA YGPPRALEPP YLPVRSSDTP PPGGERNGAQ QGRLSVGSVY 370 380 390 400 410 420 RPNQNGRGLP DLVPDPNYVQ ASTYVQRAHL YSLRCAAEEK CLASTAYAPE ATDYDVRVLL 430 440 450 460 470 480 RFPQRVKNQG TADFLPNRPR HTWEWHSCHQ HYHSMDEFSH YDLLDAATGK KVAEGHKASF 490 500 510 520 530 540 CLEDSTCDFG NLKRYACTSH TQGLSPGCYD TYNADIDCQW IDITDVQPGN YILKVHVNPK 550 560 570 YIVLESDFTN NVVRCNIHYT GRYVSATNCK IVQS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25." Kenyon K., Modi W.S., Contente S., Friedman R.M. J. Biol. Chem. 268:18435-18437(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-141. Tissue: Skin fibroblast.
[2]	"Structure of the human lysyl oxidase-like gene." Kenyon K., Sathya G., Contente S., Friedman R.M. Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-141. Tissue: Placenta.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-153. Tissue: Amygdala.
[4]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-153. Tissue: Lung and Placenta.
[6]	"Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma." Thorleifsson G., Magnusson K.P., Sulem P., Walters G.B., Gudbjartsson D.F., Stefansson H., Jonsson T., Jonasdottir A., Jonasdottir A., Stefansdottir G., Masson G., Hardarson G.A., Petursson H., Arnarsson A., Motallebipour M., Wallerman O., Wadelius C., Gulcher J.R. , Thorsteinsdottir U., Kong A., Jonasson F., Stefansson K. Science 317:1397-1400(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LEU-141 AND ASP-153, SUSCEPTIBILITY TO XFS.
[7]	"Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people." Hewitt A.W., Sharma S., Burdon K.P., Wang J.J., Baird P.N., Dimasi D.P., Mackey D.A., Mitchell P., Craig J.E. Hum. Mol. Genet. 17:710-716(2008) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION OF VARIANTS LEU-141 AND ASP-153 WITH EXFOLIATION SYNDROME, TISSUE SPECIFICITY.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-141, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Association of LOXL1 gene with Finnish exfoliation syndrome patients." Lemmela S., Forsman E., Onkamo P., Nurmi H., Laivuori H., Kivela T., Puska P., Heger M., Eriksson A., Forsius H., Jarvela I. J. Hum. Genet. 54:289-297(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION OF VARIANTS LEU-141 AND ASP-153 WITH EXFOLIATION SYNDROME.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L21186 mRNA. Translation: AAA50162.1. U24389 , U24395, U24394, U24393, U24391, U24390 Genomic DNA. Translation: AAA68940.1. AK314222 mRNA. Translation: BAG36895.1. AC108137 Genomic DNA. No translation available. BC015090 mRNA. Translation: AAH15090.1. BC068542 mRNA. Translation: AAH68542.1.
IPI	IPI00001597.
PIR	A48501.
RefSeq	NP_005567.2. NM_005576.2.
UniGene	Hs.65436.
3D structure databases
ProteinModelPortal	Q08397.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08397. 2 interactions.
STRING	9606.ENSP00000261921.
PTM databases
PhosphoSite	Q08397.
Polymorphism databases
DMDM	189031484.
Proteomic databases
PaxDb	Q08397.
PRIDE	Q08397.
Protocols and materials databases
DNASU	4016.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261921; ENSP00000261921; ENSG00000129038.
GeneID	4016.
KEGG	hsa:4016.
UCSC	uc002awc.1. human.
Organism-specific databases
CTD	4016.
GeneCards	GC15P074218.
HGNC	HGNC:6665. LOXL1.
HPA	HPA042111.
MIM	153456. gene. 177650. phenotype.
neXtProt	NX_Q08397.
PharmGKB	PA30428.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77510.
HOGENOM	HOG000234262.
HOVERGEN	HBG000226.
InParanoid	Q08397.
KO	K14678.
OMA	YEEYGGG.
OrthoDB	EOG4JQ3XV.
PhylomeDB	Q08397.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	Q08397.
Bgee	Q08397.
CleanEx	HS_LOXL1.
Genevestigator	Q08397.
GermOnline	ENSG00000129038. Homo sapiens.
Family and domain databases
InterPro	IPR001695. Lysyl_oxidase. IPR019828. Lysyl_oxidase_CS. [Graphical view]
Pfam	PF01186. Lysyl_oxidase. 1 hit. [Graphical view]
PRINTS	PR00074. LYSYLOXIDASE.
PROSITE	PS00926. LYSYL_OXIDASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	LOXL1. human.
GenomeRNAi	4016.
NextBio	15756.
SOURCE	Search...

Entry information

Entry name

LOXL1_HUMAN

Accession

Primary (citable) accession number: Q08397
Secondary accession number(s): Q6NUL3, Q96BW7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	February 26, 2008
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.