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Identification
HMDB Protein ID HMDBP08249
Secondary Accession Numbers
  • 13961
Name Lysyl oxidase homolog 1
Synonyms
  1. LOL
  2. Lysyl oxidase-like protein 1
Gene Name LOXL1
Protein Type Unknown
Biological Properties
General Function Involved in copper ion binding
Specific Function Active on elastin and collagen substrates
Pathways Not Available
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
oxidoreductase activity, acting on the ch-nh2 group of donors
oxidoreductase activity, acting on the ch-nh2 group of donors, oxygen as acceptor
oxidoreductase activity
copper ion binding
Process
metabolic process
oxidation reduction
Cellular Location
  1. Secreted
  2. extracellular space (Potential)
Gene Properties
Chromosome Location Chromosome:1
Locus 15q24-q25|15q22
SNPs LOXL1
Gene Sequence
>1725 bp
ATGGCTCTGGCCCGAGGCAGCCGGCAGCTGGGGGCCCTGGTGTGGGGCGCCTGCCTGTGC
GTGCTGGTGCACGGGCAGCAGGCGCAGCCCGGGCAGGGCTCGGACCCCGCCCGCTGGCGG
CAGCTGATCCAGTGGGAGAACAACGGGCAGGTGTACAGCTTGCTCAACTCGGGCTCAGAG
TACGTGCCGGCCGGACCTCAGCGCTCCGAGAGTAGCTCCCGGGTGCTGCTGGCCGGCGCG
CCCCAGGCCCAGCAGCGGCGCAGCCACGGGAGCCCCCGGCGTCGGCAGGCGCCGTCCCTG
CCCCTGCCGGGGCGCGTGGGCTCGGACACCGTGCGCGGCCAGGCGCGGCACCCATTCGGC
TTTGGCCAGGTGCCCGACAACTGGCGCGAGGTGGCCGTCGGGGACAGCACGGGCATGGCC
CGGGCCCGCACCTCCGTCTCCCAGCAACGGCACGGGGGCTCCGCCTCCTCGGTCTCGGCT
TCGGCCTTCGCCAGCACCTACCGCCAGCAGCCCTCCTACCCGCAGCAGTTCCCCTACCCG
CAGGCGCCCTTCGTCAGCCAGTACGAGAACTACGACCCCGCGTCGCGGACCTACGACCAG
GGTTTCGTGTACTACCGGCCCGCGGGCGGCGGCGTGGGCGCGGGGGCGGCGGCCGTGGCC
TCGGCGGGGGTCATCTACCCCTACCAGCCCCGGGCGCGCTACGAGGAGTACGGCGGCGGC
GAAGAGCTGCCCGAGTACCCGCCTCAGGGCTTCTACCCGGCCCCCGAGAGGCCCTACGTG
CCGCCGCCGCCGCCGCCCCCCGACGGCCTGGACCGCCGCTACTCGCACAGTCTGTACAGC
GAGGGCACCCCCGGCTTCGAGCAGGCCTACCCTGACCCCGGTCCCGAGGCGGCGCAGGCC
CATGGCGGAGACCCACGCCTGGGCTGGTACCCGCCCTACGCCAACCCGCCGCCCGAGGCG
TACGGGCCGCCGCGCGCGCTGGAGCCGCCCTACCTGCCGGTGCGCAGCTCCGACACGCCC
CCGCCGGGTGGGGAGCGGAACGGCGCGCAGCAGGGCCGCCTCAGCGTGGGCAGCGTGTAC
CGGCCCAACCAGAACGGCCGCGGTCTCCCTGACTTGGTCCCAGACCCCAACTATGTGCAA
GCATCCACTTATGTGCAGAGAGCCCACCTGTACTCCCTGCGCTGTGCTGCGGAGGAGAAG
TGTCTGGCCAGCACAGCCTATGCCCCTGAGGCCACCGACTACGATGTGCGGGTGCTACTG
CGCTTCCCCCAGCGCGTGAAGAACCAGGGCACAGCAGACTTCCTCCCCAACCGGCCACGG
CACACCTGGGAGTGGCACAGCTGCCACCAGCATTACCACAGCATGGACGAGTTCAGCCAC
TACGACCTACTGGATGCAGCCACAGGCAAGAAGGTGGCCGAGGGCCACAAGGCCAGTTTC
TGCCTGGAGGACAGCACCTGTGACTTCGGCAACCTCAAGCGCTATGCATGCACCTCTCAT
ACCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGG
ATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGCACGTGAACCCAAAG
TATATTGTTTTGGAGTCTGACTTCACCAACAACGTGGTGAGATGCAACATTCACTACACA
GGTCGCTACGTTTCTGCAACAAACTGCAAAATTGTCCAATCCTGA
Protein Properties
Number of Residues 574
Molecular Weight 63109.3
Theoretical pI 7.55
Pfam Domain Function
Signals
  • 1-25
Transmembrane Regions
  • None
Protein Sequence
>Lysyl oxidase homolog 1
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSE
YVPAGPQRSESSSRVLLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFG
FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSASAFASTYRQQPSYPQQFPYP
QAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQA
HGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVY
RPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLL
RFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASF
CLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPK
YIVLESDFTNNVVRCNIHYTGRYVSATNCKIVQS
GenBank ID Protein 67782346
UniProtKB/Swiss-Prot ID Q08397
UniProtKB/Swiss-Prot Entry Name LOXL1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_005576.2
GeneCard ID LOXL1
GenAtlas ID LOXL1
HGNC ID HGNC:6665
References
General References
  1. 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [PubMed:16572171 ]
  4. Kenyon K, Modi WS, Contente S, Friedman RM: A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25. J Biol Chem. 1993 Sep 5;268(25):18435-7. [PubMed:7689553 ]
  5. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K: Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007 Sep 7;317(5843):1397-400. Epub 2007 Aug 9. [PubMed:17690259 ]
  6. Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE: Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 2008 Mar 1;17(5):710-6. Epub 2007 Nov 23. [PubMed:18037624 ]
  7. Lemmela S, Forsman E, Onkamo P, Nurmi H, Laivuori H, Kivela T, Puska P, Heger M, Eriksson A, Forsius H, Jarvela I: Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet. 2009 May;54(5):289-97. doi: 10.1038/jhg.2009.28. Epub 2009 Apr 3. [PubMed:19343041 ]