LOX lysyl oxidase [Homo sapiens (human)] - Gene

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5q23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (122063195..122078259, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (122579951..122595014, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (121398890..121413954, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.
Title: Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.
Fibroblast-Derived Lysyl Oxidase Increases Oxidative Phosphorylation and Stemness in Cholangiocarcinoma.
Title: Fibroblast-Derived Lysyl Oxidase Increases Oxidative Phosphorylation and Stemness in Cholangiocarcinoma.
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.
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.
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.
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.
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.
Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
Title: Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (195)

Phenotypes

Go to the top of the page Help

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 EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:482052

RH47835 (e-PCR)
- UniSTS:12551

RH68325 (e-PCR)
- UniSTS:268

LOX_8440 (e-PCR)
- UniSTS:467747

D5S467 (e-PCR), detects polymorphism
- UniSTS:19753

RH66702 (e-PCR)
- UniSTS:42537

SHGC-35935 (e-PCR)
- UniSTS:26667

MARC_64269-64270:1182200887:1 (e-PCR)
- UniSTS:508213

D5S2411 (e-PCR)
- UniSTS:8285

D5S467 (e-PCR), detects polymorphism
- UniSTS:48734

SHGC-132561 (e-PCR)
- UniSTS:173948

GDB:201801 (e-PCR)
- UniSTS:156062

GDB:294218 (e-PCR)
- UniSTS:156397

NoName (e-PCR)
- UniSTS:489721

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	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor-beta signaling pathway	IBA Inferred from Biological aspect of Ancestor 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 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

Go to the top of the page Help

Preferred Names: protein-lysine 6-oxidase

NP_001171573.1

EC 1.4.3.13

NP_001304002.1

EC 1.4.3.13

NP_002308.2

EC 1.4.3.13

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_008722.1 RefSeqGene

Range

5102..20166

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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