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    LOX lysyl oxidase [ Homo sapiens (human) ]

    Gene ID: 4015, updated on 11-Apr-2024

    Summary

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    Official Symbol
    LOXprovided by HGNC
    Official Full Name
    lysyl oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:6664
    See related
    Ensembl:ENSG00000113083 MIM:153455; AllianceGenome:HGNC:6664
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAT10
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 18.5), gall bladder (RPKM 11.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LOX in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (122063195..122078259, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (122579951..122595014, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (121398890..121413954, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379149 Neighboring gene uncharacterized LOC105379148 Neighboring gene ferritin mitochondrial Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:121297323-121297861 Neighboring gene serum response factor binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412305-121412822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412823-121413340 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:121434535-121435734 Neighboring gene Sharpr-MPRA regulatory region 13182 Neighboring gene ZNF474 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:121464631-121465830 Neighboring gene zinc finger protein 474 Neighboring gene zinc finger protein 475

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Effect of Lysyl Oxidase G473 A Polymorphism on Lysyl Oxidase and Total Soluble Collagen Expression in Oral Submucous Fibrosis. Mukherjee S, et al. Asian Pac J Cancer Prev, 2021 Aug 1. PMID 34452563, Free PMC Article
    2. Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings. Van Gucht I, et al. Int J Mol Sci, 2021 Jul 1. PMID 34281165, Free PMC Article
    3. Influence of Lysyl oxidase Polymorphisms in Cancer Risk: An Updated Meta-analysis. Mongkolrob R, et al. Genet Test Mol Biomarkers, 2021 Jun. PMID 34042515
    4. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. McKenzie F, et al. Clin Genet, 2021 Aug. PMID 33866545
    5. Regulation of lysyl oxidase expression in THP-1 cell-derived M2-like macrophages. Takemoto R, et al. J Cell Biochem, 2021 Aug. PMID 33644883

    See all (243) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crosstalk of lysyl oxidase-like 1 and lysyl oxidase prolongs their half-lives and regulates liver fibrosis through Notch signal.
      Title: Crosstalk of lysyl oxidase-like 1 and lysyl oxidase prolongs their half-lives and regulates liver fibrosis through Notch signal.
    2. Copper, Lysyl Oxidase Activity, and Collagen in Aqueous Humour of Primary Glaucoma: An Association with Clinical Parameters.
      Title: Copper, Lysyl Oxidase Activity, and Collagen in Aqueous Humour of Primary Glaucoma: An Association with Clinical Parameters.
    3. Association of LOX gene G473A polymorphism with the occurrence of allergic rhinitis and efficacy of montelukast sodium in children.
      Title: Association of LOX gene G473A polymorphism with the occurrence of allergic rhinitis and efficacy of montelukast sodium in children.
    4. MiR-590-3p Promotes the Phenotypic Switching of Vascular Smooth Muscle Cells by Targeting Lysyl Oxidase.
      Title: MiR-590-3p Promotes the Phenotypic Switching of Vascular Smooth Muscle Cells by Targeting Lysyl Oxidase.
    5. The Lysyl Oxidase G473A Polymorphism Exacerbates Oral Cancer Development in Humans and Mice.
      Title: The Lysyl Oxidase G473A Polymorphism Exacerbates Oral Cancer Development in Humans and Mice.
    6. Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
      Title: Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
    7. Elastic Laminar Reorganization Occurs with Outward Diameter Expansion during Collateral Artery Growth and Requires Lysyl Oxidase for Stabilization.
      Title: Elastic Laminar Reorganization Occurs with Outward Diameter Expansion during Collateral Artery Growth and Requires Lysyl Oxidase for Stabilization.
    8. Effect of Lysyl Oxidase G473 A Polymorphism on Lysyl Oxidase and Total Soluble Collagen Expression in Oral Submucous Fibrosis.
      Title: Effect of Lysyl Oxidase G473 A Polymorphism on Lysyl Oxidase and Total Soluble Collagen Expression in Oral Submucous Fibrosis.
    9. Lysyl oxidase-variant 2 (LOX-v2) colocalizes with promyelocytic leukemia-nuclear bodies in the nucleus.
      Title: Lysyl oxidase-variant 2 (LOX-v2) colocalizes with promyelocytic leukemia-nuclear bodies in the nucleus.
    10. Different mRNA expression patterns in keratoglobus and pellucid marginal degeneration keratocytes.
      Title: Different mRNA expression patterns in keratoglobus and pellucid marginal degeneration keratocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (193)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Aortic aneurysm, familial thoracic 10
    MedGen: C4284414 OMIM: 617168 GeneReviews: Heritable Thoracic Aortic Disease Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC105112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine 6-oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-lysine 6-oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-lysine 6-oxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables small molecule binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ascending aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to chemokine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in connective tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in descending aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in elastic fiber assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-lysine oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-lysine oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of platelet-derived growth factor receptor-beta signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein-lysine 6-oxidase
    NP_001171573.1
    NP_001304002.1
    NP_002308.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008722.1 RefSeqGene

      Range
      5102..20166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178102.2 → NP_001171573.1  protein-lysine 6-oxidase isoform 2

      See identical proteins and their annotated locations for NP_001171573.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC010255, AI351010, AK307732, CN265862, DA720490
      Consensus CDS
      CCDS93767.1
      UniProtKB/TrEMBL
      B7ZAJ4
      Related
      ENSP00000503423.1, ENST00000503759.5
      Conserved Domains (1) summary
      pfam01186
      Location:1 → 179
      Lysyl_oxidase; Lysyl oxidase

    2. NM_001317073.1 → NP_001304002.1  protein-lysine 6-oxidase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC010255, AI351010, AK307732
      Consensus CDS
      CCDS93766.1
      UniProtKB/TrEMBL
      B0AZT2
      Related
      ENSP00000503104.1, ENST00000513319.5
      Conserved Domains (1) summary
      pfam01186
      Location:1 → 115
      Lysyl_oxidase; Lysyl oxidase

    3. NM_002317.7 → NP_002308.2  protein-lysine 6-oxidase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002308.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC010255, AI351010, AK307732, BC089436, DC299494
      Consensus CDS
      CCDS4129.1
      UniProtKB/Swiss-Prot
      B2R5Q3, P28300, Q5FWF0
      UniProtKB/TrEMBL
      D0PNI2, Q96PQ9
      Related
      ENSP00000231004.4, ENST00000231004.5
      Conserved Domains (1) summary
      pfam01186
      Location:213 → 414
      Lysyl_oxidase; Lysyl oxidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      122063195..122078259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      122579951..122595014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28300.2 GenPept UniProtKB/Swiss-Prot:P28300

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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