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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
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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
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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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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

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