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Aliases for LOXL3 Gene

Aliases for LOXL3 Gene

  • Lysyl Oxidase Like 3 2 3 5
  • Lysyl Oxidase-Like Protein 3 3 4
  • LOXL 3 4
  • Lysyl Oxidase Homolog 3 3
  • Lysyl Oxidase-Like 3 2
  • EC 1.4.3.13 61
  • EC 1.4.3.- 4
  • EC 1.4.3 61

External Ids for LOXL3 Gene

Previous GeneCards Identifiers for LOXL3 Gene

  • GC02M074897
  • GC02M074972
  • GC02M074717
  • GC02M074734
  • GC02M074671
  • GC02M074613
  • GC02M074760
  • GC02M074496

Summaries for LOXL3 Gene

Entrez Gene Summary for LOXL3 Gene

  • This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]

GeneCards Summary for LOXL3 Gene

LOXL3 (Lysyl Oxidase Like 3) is a Protein Coding gene. Diseases associated with LOXL3 include Irregular Astigmatism and Stickler Syndrome. Among its related pathways are Elastic fibre formation and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include copper ion binding and oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor. An important paralog of this gene is LOXL2.

UniProtKB/Swiss-Prot for LOXL3 Gene

  • Both isoforms function as amine oxidases toward elastin and different types of collagens. Isoform 1 shows the highest activity toward collagen type VIII, while Isoform 2 presents the highest activity toward collagen type IV.

Gene Wiki entry for LOXL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOXL3 Gene

Genomics for LOXL3 Gene

Regulatory Elements for LOXL3 Gene

Enhancers for LOXL3 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
GH02F074583 0.8 FANTOM5 Ensembl ENCODE 12 -29.1 -29084 3.7 ELF3 PKNOX1 MLX ARID4B THRB RAD21 ZNF48 RARA SLC30A9 GATA4 DOK1 LOXL3 AUP1 HTRA2 TLX2 PCGF1 LBX2 CCDC142 TTC31 DQX1
GH02F074587 1.1 Ensembl ENCODE 11.8 -31.8 -31832 0.6 TBL1XR1 WRNIP1 ARID4B ZNF2 RAD21 ZNF143 THAP11 ZNF654 CEBPB MIER2 LBX2 DOK1 MRPL53 LOXL3 AUP1 HTRA2 PCGF1 CCDC142 TTC31 DQX1
GH02F074528 0.2 ENCODE 11.2 +25.6 25562 4.4 HDGF ARNT MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 LBX2 WBP1 CCDC142 PCGF1 DUSP11 ENSG00000270571 MOGS MTHFD2 ENSG00000273245 TTC31
GH02F074487 0.2 ENCODE 10.9 +65.5 65549 4.9 PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 LBX2 HTRA2 AUP1 DQX1 MOGS TLX2 WBP1 DOK1 LOXL3 GC02P074500
GH02F074631 0.5 ENCODE 9.9 -76.7 -76726 1.5 CTCF PKNOX1 GATA3 JUND PBX2 PRDM1 ZIC2 ATF2 SEMA4F LOXL3 LBX2-AS1 TVP23BP2 GC02P074646
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LOXL3 on UCSC Golden Path with GeneCards custom track

Promoters for LOXL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000302136 1187 3001 PKNOX1 ATF1 WRNIP1 SIN3A YBX1 ZNF48 BRCA1 GLIS2 ELK1 KLF7

Genomic Location for LOXL3 Gene

Chromosome:
2
Start:
74,532,258 bp from pter
End:
74,555,887 bp from pter
Size:
23,630 bases
Orientation:
Minus strand

Genomic View for LOXL3 Gene

Genes around LOXL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOXL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOXL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXL3 Gene

Proteins for LOXL3 Gene

  • Protein details for LOXL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58215-LOXL3_HUMAN
    Recommended name:
    Lysyl oxidase homolog 3
    Protein Accession:
    P58215
    Secondary Accessions:
    • D6W5J1
    • Q2EHP2
    • Q6IPL7
    • Q96RS1

    Protein attributes for LOXL3 Gene

    Size:
    753 amino acids
    Molecular mass:
    83166 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LOXL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LOXL3 Gene

Selected DME Specific Peptides for LOXL3 Gene

Post-translational modifications for LOXL3 Gene

  • 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 Asn 111, Asn 266, Asn 390, Asn 481, and Asn 625
  • Modification sites at PhosphoSitePlus

Domains & Families for LOXL3 Gene

Suggested Antigen Peptide Sequences for LOXL3 Gene

Graphical View of Domain Structure for InterPro Entry

P58215

UniProtKB/Swiss-Prot:

LOXL3_HUMAN :
  • Contains 4 SRCR domains.
  • Belongs to the lysyl oxidase family.
Domain:
  • Contains 4 SRCR domains.
Family:
  • Belongs to the lysyl oxidase family.
genes like me logo Genes that share domains with LOXL3: view

No data available for Gene Families for LOXL3 Gene

Function for LOXL3 Gene

Molecular function for LOXL3 Gene

UniProtKB/Swiss-Prot Function:
Both isoforms function as amine oxidases toward elastin and different types of collagens. Isoform 1 shows the highest activity toward collagen type VIII, while Isoform 2 presents the highest activity toward collagen type IV.

Enzyme Numbers (IUBMB) for LOXL3 Gene

Gene Ontology (GO) - Molecular Function for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004720 protein-lysine 6-oxidase activity NAS 11284725
GO:0005044 scavenger receptor activity IEA --
GO:0005507 copper ion binding IEA,NAS 11284725
GO:0005515 protein binding IPI 16096638
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with LOXL3: view
genes like me logo Genes that share phenotypes with LOXL3: view

Animal Models for LOXL3 Gene

MGI Knock Outs for LOXL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for LOXL3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LOXL3 Gene

Localization for LOXL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXL3 Gene

Isoform 1: Secreted, extracellular space.
Isoform 2: Cytoplasm. Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LOXL3 Gene COMPARTMENTS Subcellular localization image for LOXL3 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 11284725
GO:0005615 extracellular space IEA --
GO:0005634 nucleus TAS 16096638
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LOXL3: view

Pathways & Interactions for LOXL3 Gene

genes like me logo Genes that share pathways with LOXL3: view

Interacting Proteins for LOXL3 Gene

Gene Ontology (GO) - Biological Process for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IDA 16096638
GO:0006898 receptor-mediated endocytosis IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 16096638
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with LOXL3: view

No data available for SIGNOR curated interactions for LOXL3 Gene

Drugs & Compounds for LOXL3 Gene

(1) Drugs for LOXL3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 172

(2) Additional Compounds for LOXL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LOXL3: view

Transcripts for LOXL3 Gene

Unigene Clusters for LOXL3 Gene

Lysyl oxidase-like 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOXL3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - - -
SP3: - - - - -
SP4: -
SP5:

Relevant External Links for LOXL3 Gene

GeneLoc Exon Structure for
LOXL3
ECgene alternative splicing isoforms for
LOXL3

Expression for LOXL3 Gene

mRNA expression in normal human tissues for LOXL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LOXL3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.0), Bone marrow mesenchymal stem cell (15.1), Serum (12.2), and Bone (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LOXL3 Gene



Protein tissue co-expression partners for LOXL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of LOXL3 Gene:

LOXL3

SOURCE GeneReport for Unigene cluster for LOXL3 Gene:

Hs.469045

mRNA Expression by UniProt/SwissProt for LOXL3 Gene:

P58215-LOXL3_HUMAN
Tissue specificity: Isoform 1 ia predominantly detected in the heart, placenta, lung, and small intestine, while isoform 2 is more highly detected in the kidney, pancreas, spleen, and thymus, and is absent in lung.
genes like me logo Genes that share expression patterns with LOXL3: view

Primer Products

No data available for mRNA differential expression in normal tissues for LOXL3 Gene

Orthologs for LOXL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LOXL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOXL3 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia LOXL3 34 35
  • 91.67 (n)
dog
(Canis familiaris)
Mammalia LOXL3 34 35
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia Loxl3 34 16 35
  • 87.83 (n)
rat
(Rattus norvegicus)
Mammalia Loxl3 34
  • 87.78 (n)
oppossum
(Monodelphis domestica)
Mammalia LOXL3 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOXL3 34 35
  • 72.51 (n)
lizard
(Anolis carolinensis)
Reptilia LOXL3 35
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13606 34
zebrafish
(Danio rerio)
Actinopterygii loxl3a 34 35
  • 66.01 (n)
loxl3b 35
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lox 36
  • 40 (a)
lox2 36
  • 40 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12248 34
Species where no ortholog for LOXL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LOXL3 Gene

ENSEMBL:
Gene Tree for LOXL3 (if available)
TreeFam:
Gene Tree for LOXL3 (if available)

Paralogs for LOXL3 Gene

Paralogs for LOXL3 Gene

Pseudogenes.org Pseudogenes for LOXL3 Gene

genes like me logo Genes that share paralogs with LOXL3: view

Variants for LOXL3 Gene

Sequence variations from dbSNP and Humsavar for LOXL3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs41295954 Uncertain significance 74,556,738(+) CCCCA(A/G)AGAGG upstream-variant-2KB, reference, missense, utr-variant-3-prime
rs786204838 Uncertain significance 74,534,149(-) TGACT(A/G)TCAGT reference, missense
rs146972503 Benign 74,552,556(+) GGACG(C/G)AGACC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs17010021 Benign 74,534,412(+) GAAGA(A/T)GTCCA reference, missense
rs77706750 Benign 74,536,120(+) AGCAG(C/T)GAACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LOXL3 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850

Variation tolerance for LOXL3 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.36; 81.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOXL3 Gene

Human Gene Mutation Database (HGMD)
LOXL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOXL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXL3 Gene

Disorders for LOXL3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LOXL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
irregular astigmatism
stickler syndrome
  • arthro-ophthalmopathy
autosomal recessive stickler syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LOXL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LOXL3

Genetic Association Database (GAD)
LOXL3
Human Genome Epidemiology (HuGE) Navigator
LOXL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOXL3
genes like me logo Genes that share disorders with LOXL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOXL3 Gene

Publications for LOXL3 Gene

  1. Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein. (PMID: 11386757) Jourdan-Le Saux C. … Csiszar K. (Genomics 2001) 2 3 4 22 64
  2. Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. (PMID: 17287949) Akagawa H. … Inoue I. (Hum. Genet. 2007) 3 22 46 64
  3. A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity. (PMID: 17018530) Lee J.-E. … Kim Y. (J. Biol. Chem. 2006) 3 4 22 64
  4. Cloning and characterization of a fourth human lysyl oxidase isoenzyme. (PMID: 11284725) Maki J.M. … Kivirikko K.I. (Biochem. J. 2001) 3 4 22 64
  5. Cloning and characterization of a human lysyl oxidase-like 3 gene (hLOXL3). (PMID: 11334717) Huang Y. … Mao Y. (Matrix Biol. 2001) 3 4 22 64

Products for LOXL3 Gene

Sources for LOXL3 Gene

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