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Q08397 (LOXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length574 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

Secretedextracellular 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Propeptide26 – 9469 By similarity
PRO_0000018528
Chain95 – 574480Lysyl oxidase homolog 1
PRO_0000018529

Regions

Region370 – 574205Lysyl-oxidase like
Compositional bias261 – 2677Poly-Pro

Sites

Metal binding4491Copper Potential
Metal binding4511Copper Potential
Metal binding4531Copper Potential

Amino acid modifications

Modified residue51212',4',5'-topaquinone; alternate By similarity
Disulfide bond395 ↔ 401 By similarity
Disulfide bond448 ↔ 497 By similarity
Disulfide bond481 ↔ 487 By similarity
Disulfide bond508 ↔ 518 By similarity
Disulfide bond555 ↔ 569 By similarity
Cross-link477 ↔ 512Lysine tyrosylquinone (Lys-Tyr); alternate By similarity

Natural variations

Natural variant1411R → 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 variant1531G → 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 LengthMass (Da)Tools
Q08397 [UniParc].

Last modified February 26, 2008. Version 2.
Checksum: 7570FEFB3E09066D

FASTA57463,110
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 expand/collapse EMBL AC list , 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.
PIRA48501.
RefSeqNP_005567.2. NM_005576.2.
UniGeneHs.65436.

3D structure databases

ProteinModelPortalQ08397.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110200. 3 interactions.
IntActQ08397. 2 interactions.
STRING9606.ENSP00000261921.

PTM databases

PhosphoSiteQ08397.

Polymorphism databases

DMDM189031484.

Proteomic databases

PaxDbQ08397.
PRIDEQ08397.

Protocols and materials databases

DNASU4016.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261921; ENSP00000261921; ENSG00000129038.
GeneID4016.
KEGGhsa:4016.
UCSCuc002awc.1. human.

Organism-specific databases

CTD4016.
GeneCardsGC15P074218.
HGNCHGNC:6665. LOXL1.
HPAHPA042111.
MIM153456. gene.
177650. phenotype.
neXtProtNX_Q08397.
PharmGKBPA30428.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77510.
HOGENOMHOG000234262.
HOVERGENHBG000226.
InParanoidQ08397.
KOK14678.
OMAQGYVYYR.
OrthoDBEOG7SN8C6.
PhylomeDBQ08397.
TreeFamTF326061.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ08397.
BgeeQ08397.
CleanExHS_LOXL1.
GenevestigatorQ08397.

Family and domain databases

InterProIPR001695. Lysyl_oxidase.
IPR019828. Lysyl_oxidase_CS.
[Graphical view]
PfamPF01186. Lysyl_oxidase. 1 hit.
[Graphical view]
PRINTSPR00074. LYSYLOXIDASE.
PROSITEPS00926. LYSYL_OXIDASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLOXL1. human.
GeneWikiLOXL1.
GenomeRNAi4016.
NextBio15756.
PROQ08397.
SOURCESearch...

Entry information

Entry nameLOXL1_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM