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Aliases for LOX Gene

Aliases for LOX Gene

  • Lysyl Oxidase 2 3 4 5
  • EC 1.4.3.13 4 58
  • Protein-Lysine 6-Oxidase 3
  • AAT10 3

External Ids for LOX Gene

Previous GeneCards Identifiers for LOX Gene

  • GC05M121103
  • GC05M121800
  • GC05M121432
  • GC05M121478
  • GC05M121429
  • GC05M116590

Summaries for LOX Gene

Entrez Gene Summary for LOX Gene

  • This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]

GeneCards Summary for LOX Gene

LOX (Lysyl Oxidase) is a Protein Coding gene. Diseases associated with LOX include Aortic Aneurysm, Familial Thoracic 10 and Oral Submucous Fibrosis. Among its related pathways are Elastic fibre formation and Collagen chain trimerization. GO annotations related to this gene include copper ion binding and protein-lysine 6-oxidase activity. An important paralog of this gene is LOXL1.

UniProtKB/Swiss-Prot for LOX Gene

  • Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity).

Gene Wiki entry for LOX Gene

Additional gene information for LOX Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOX Gene

Genomics for LOX Gene

Regulatory Elements for LOX Gene

Enhancers for LOX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H122696 1.4 Ensembl ENCODE dbSUPER 21.2 -618.7 -618702 1 ZNF493 ZFP64 ZNF121 ZNF138 ZNF354C KLF7 ZNF202 ZNF654 SP3 ZNF680 CEP120 CSNK1G3 SNX2 ENSG00000260686 ZNF474 SRFBP1 KRT8P33 LOX PRDM6 ARGFXP1
GH05H121961 1.2 ENCODE 22.4 +115.9 115945 2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 LOX SNX2 SRFBP1 ENSG00000250803 ENSG00000247311 ZNF474
GH05H122180 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -103.9 -103933 4 KLF1 JUN MAX FEZF1 ZFHX2 POLR2A SCRT2 FOS PRDM10 ZBTB20 LOX ENSG00000247311 ENSG00000249610 ENSG00000250803 SRFBP1 PIR45845
GH05H122098 1.3 Ensembl ENCODE dbSUPER 11.2 -20.8 -20789 1 JUN FOSL1 ZNF316 CTBP1 EGR1 FOS NFE2 CREM MAFK SMARCE1 SRFBP1 LOX ZNF474
GH05H122773 1.3 ENCODE dbSUPER 11.1 -697.4 -697392 4 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SNX2 CEP120 CSNK1G3 SRFBP1 KRT8P33 LOX ENSG00000260686 PRDM6 PPIC RN7SL689P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LOX on UCSC Golden Path with GeneCards custom track

Promoters for LOX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000316922 560 2001 ZFP64 ARID4B DMAP1 ZNF2 SLC30A9 GLIS2 ZNF143 SP3 SP5 REST

Genomic Location for LOX Gene

Chromosome:
5
Start:
122,063,195 bp from pter
End:
122,078,360 bp from pter
Size:
15,166 bases
Orientation:
Minus strand

Genomic View for LOX Gene

Genes around LOX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOX Gene

Proteins for LOX Gene

  • Protein details for LOX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28300-LYOX_HUMAN
    Recommended name:
    Protein-lysine 6-oxidase
    Protein Accession:
    P28300
    Secondary Accessions:
    • B2R5Q3
    • Q5FWF0

    Protein attributes for LOX Gene

    Size:
    417 amino acids
    Molecular mass:
    46944 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489;
    Quaternary structure:
    • Interacts with MFAP4 (PubMed:26601954).
    Miscellaneous:
    • The propeptide plays a role in directing the deposition of this enzyme to elastic fibers, via interaction with tropoelastin.

neXtProt entry for LOX Gene

Selected DME Specific Peptides for LOX Gene

P28300:
  • DIDCQWIDITDV
  • AAPGAWRQ
  • IQWENNGQV
  • PGNYILKV
  • DDNPYYNYYDTYERPR
  • WEWHSCHQHYHSMDEFSHYDLLDA
  • QASTYVQ
  • RVLLRFPQRVKNQGT
  • VAEGHKASFCLEDTSCDYGY

Post-translational modifications for LOX Gene

  • Proteolytically activated by BMP1.
  • 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.
  • Glycosylation at posLast=8181, Thr89, Asn97, posLast=113113, Thr120, posLast=130130, Thr131, Ser132, Asn144, and Thr413
  • Modification sites at PhosphoSitePlus

Other Protein References for LOX Gene

Domains & Families for LOX Gene

Gene Families for LOX Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for LOX Gene

Graphical View of Domain Structure for InterPro Entry

P28300

UniProtKB/Swiss-Prot:

LYOX_HUMAN :
  • Belongs to the lysyl oxidase family.
Family:
  • Belongs to the lysyl oxidase family.
genes like me logo Genes that share domains with LOX: view

Function for LOX Gene

Molecular function for LOX Gene

GENATLAS Biochemistry:
lysyl oxidase,copper dependent,processed by BMP1 to the mature enzyme necessary for the formation of covalent cross-links in collagen and elastic fibers
UniProtKB/Swiss-Prot CatalyticActivity:
[Protein]-L-lysine + O(2) + H(2)O = [protein]-(S)-2-amino-6-oxohexanoate + NH(3) + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity).

Enzyme Numbers (IUBMB) for LOX Gene

Phenotypes From GWAS Catalog for LOX Gene

Gene Ontology (GO) - Molecular Function for LOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004720 protein-lysine 6-oxidase activity ISS,TAS --
GO:0005507 copper ion binding TAS,IEA --
GO:0005515 protein binding IPI 19570982
GO:0016491 oxidoreductase activity IEA --
GO:0016641 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor IEA --
genes like me logo Genes that share ontologies with LOX: view
genes like me logo Genes that share phenotypes with LOX: view

Human Phenotype Ontology for LOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LOX Gene

MGI Knock Outs for LOX:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LOX
  • Applied Biological Materials Clones for LOX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for LOX Gene

Localization for LOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOX Gene

Secreted. Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LOX gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with LOX: view

Pathways & Interactions for LOX Gene

genes like me logo Genes that share pathways with LOX: view

Gene Ontology (GO) - Biological Process for LOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 1685472
GO:0007507 heart development IEA --
GO:0009725 response to hormone IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030199 collagen fibril organization IEA --
genes like me logo Genes that share ontologies with LOX: view

No data available for SIGNOR curated interactions for LOX Gene

Drugs & Compounds for LOX Gene

(48) Drugs for LOX Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Enzyme, cofactor 188
Oxygen Approved, Vet_approved Pharma 0
Ammonia Approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 68
Water Approved Pharma 0

(59) Additional Compounds for LOX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LOX: view

Transcripts for LOX Gene

Unigene Clusters for LOX Gene

Lysyl oxidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LOX
  • Applied Biological Materials Clones for LOX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LOX Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - -

Relevant External Links for LOX Gene

GeneLoc Exon Structure for
LOX
ECgene alternative splicing isoforms for
LOX

Expression for LOX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOX Gene

Protein differential expression in normal tissues from HIPED for LOX Gene

This gene is overexpressed in Skin (14.3), Amniocyte (12.7), Bone marrow stromal cell (10.2), Gallbladder (9.4), Bone marrow mesenchymal stem cell (8.1), and Pancreas (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LOX Gene



NURSA nuclear receptor signaling pathways regulating expression of LOX Gene:

LOX

SOURCE GeneReport for Unigene cluster for LOX Gene:

Hs.102267

mRNA Expression by UniProt/SwissProt for LOX Gene:

P28300-LYOX_HUMAN
Tissue specificity: Heart, placenta, skeletal muscle, kidney, lung and pancreas.

Evidence on tissue expression from TISSUES for LOX Gene

  • Skin(4.8)
  • Lung(4.5)
  • Blood(4.4)
  • Nervous system(4.2)
  • Bone(3.2)
  • Kidney(2.8)
  • Heart(2.6)
  • Muscle(2.6)
  • Intestine(2.3)
  • Liver(2)
genes like me logo Genes that share expression patterns with LOX: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOX Gene

Orthologs for LOX Gene

This gene was present in the common ancestor of animals.

Orthologs for LOX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOX 34 33
  • 99.2 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOX 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOX 33 34
  • 88.54 (n)
dog
(Canis familiaris)
Mammalia LOX 33 34
  • 88.35 (n)
mouse
(Mus musculus)
Mammalia Lox 33 16 34
  • 84.43 (n)
rat
(Rattus norvegicus)
Mammalia Lox 33
  • 82.56 (n)
oppossum
(Monodelphis domestica)
Mammalia LOX 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOX 33 34
  • 74.85 (n)
lizard
(Anolis carolinensis)
Reptilia LOX 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lox 33
  • 70.16 (n)
zebrafish
(Danio rerio)
Actinopterygii lox 33 34
  • 64.96 (n)
Dr.11427 33
fruit fly
(Drosophila melanogaster)
Insecta lox 34
  • 28 (a)
ManyToMany
lox2 34
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for LOX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LOX Gene

ENSEMBL:
Gene Tree for LOX (if available)
TreeFam:
Gene Tree for LOX (if available)

Paralogs for LOX Gene

Paralogs for LOX Gene

(2) SIMAP similar genes for LOX Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LOX: view

Variants for LOX Gene

Sequence variations from dbSNP and Humsavar for LOX Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs752839330 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] 122,077,751(+) GGCTG(C/T)ACCAG upstream-variant-2KB, reference, missense
rs767855588 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] 122,077,526(+) ACTGA(A/G)CGCAG upstream-variant-2KB, reference, missense
rs876657852 Pathogenic, Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] 122,074,155(-) CAGTA(G/T)GGATG intron-variant, reference, missense
VAR_077536 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
VAR_077537 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]

Structural Variations from Database of Genomic Variants (DGV) for LOX Gene

Variant ID Type Subtype PubMed ID
esv3409730 CNV insertion 20981092

Variation tolerance for LOX Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.74; 73.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOX Gene

Human Gene Mutation Database (HGMD)
LOX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOX Gene

Disorders for LOX Gene

MalaCards: The human disease database

(18) MalaCards diseases for LOX Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 10
  • aortic aneurysm, thoracic, with or without aortic dissection
oral submucous fibrosis
  • oral cavity submucous fibrosis
aneurysm
  • aneurysms
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
occipital horn syndrome
  • cutis laxa x-linked
- elite association - COSMIC cancer census association via MalaCards
Search LOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LYOX_HUMAN
  • Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:26838787, ECO:0000269 PubMed:27432961}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LOX

Genetic Association Database (GAD)
LOX
Human Genome Epidemiology (HuGE) Navigator
LOX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOX
genes like me logo Genes that share disorders with LOX: view

No data available for Genatlas for LOX Gene

Publications for LOX Gene

  1. Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2. (PMID: 1685472) Hämäläinen ER … Kivirikko KI (Genomics 1991) 2 3 4 22 60
  2. Association between lysyl oxidase polymorphisms and oral submucous fibrosis in older male areca chewers. (PMID: 18764858) Shieh TM … Liu CJ (Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2009) 3 22 45 60
  3. Epigenetic inhibition of lysyl oxidase transcription after transformation by ras oncogene. (PMID: 10391127) Contente S … Friedman RM (Molecular and cellular biochemistry 1999) 3 4 22 60
  4. Structure of the human lysyl oxidase gene. (PMID: 7902322) Hämäläinen ER … Kivirikko KI (Genomics 1993) 3 4 22 60
  5. The complete derived amino acid sequence of human lysyl oxidase and assignment of the gene to chromosome 5 (extensive sequence homology with the murine ras recision gene). (PMID: 1357535) Mariani TJ … Deak SB (Matrix (Stuttgart, Germany) 1992) 3 4 22 60

Products for LOX Gene

  • Addgene plasmids for LOX

Sources for LOX Gene

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