LOX lysyl oxidase [Homo sapiens] - Gene

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Summary

Official Symbol: LOXprovided by HGNC
Official Full Name: lysyl oxidaseprovided by HGNC
Primary source: HGNC:6664
See related: Ensembl:ENSG00000113083; HPRD:01087; MIM:153455; Vega:OTTHUMG00000128914
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: MGC105112
Summary: The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. Defects in this gene are a cause of autosomal recessive cutis laxa type I (CL type I). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

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Genomic context

Location :: 5q23.2

Sequence :: Chromosome: 5; NC_000005.9 (121398890..121414055, complement)

See LOX in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Expressions of LOX and MMP-2 in gastric cancer tissues are significantly higher than that in pericancerous tissues, and are also higher in gastric cancer with lymph node metastasis.
Title: [Expression of LOX and MMP-2 in gastric cancer tissue and the effects of LOX and MMP-2 on tumor invasion and metastasis].
A novel polymorphism in the LOX gene, G473A (rs1800449), was identified. Frequencies of LOX 473 AA genotype and A allele were significantly higher in patients with coronary artery disease than in controls.
Title: Lysyl oxidase G473A polymorphism is associated with increased risk of coronary artery diseases.
The results suggest that decreased expression of elastin and LOX and increased expression of elafin in the cardinal ligaments may contribute to pelvic organ prolapse.
Title: [Expression of elastin, lysyl oxidase and elafin in the cardinal ligament of women with pelvic organ prolapse].
G473A polymorphism of the lysyl oxidase gene may be closely associated with susceptibility to the development and differentiation of gastric cancer in South Korean patients.
Title: Lysyl oxidase G473A polymorphism is closely associated with susceptibility to gastric cancer in a South Korean population.
LOX is a potential mediator that couples mechanotransduction to oncogenic signaling by TGF-beta1 and measures capable of inactivating LOX function may prove effective in diminishing breast cancer progression stimulated by TGF-beta1.
Title: Lysyl oxidase contributes to mechanotransduction-mediated regulation of transforming growth factor-β signaling in breast cancer cells.
Human lysyl oxidase gene does not confer increased genotypic risk for adolescent idiopathic scoliosis.
Title: Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.
Both Smad and non-Smad signaling pathways are involved in TGFbeta-mediated LOX induction, suggesting complex regulation of these important extracellular matrix cross-linking enzymes.
Title: Transforming growth factor-beta induces extracellular matrix protein cross-linking lysyl oxidase (LOX) genes in human trabecular meshwork cells.
the interaction of LOX-PP with Hsp70 and c-Raf inhibits a critical intermediate in Ras-induced MEK signaling and plays an important role in the function of this tumor suppressor
Title: The Ras signaling inhibitor LOX-PP interacts with Hsp70 and c-Raf to reduce Erk activation and transformed phenotype of breast cancer cells.
Analysis revealed that left atrial appendage of atrial fibrillation patients are characterized by increased lysyl oxidase (LOX) mRNA (218 +/- 42%) and protein (253 +/- 11%) expression.
Title: Increased lysyl oxidase expression and collagen cross-linking during atrial fibrillation.
Review of down-regulation of lysyl oxidase expression in lung cells by components of cigarette smoke, indicating lysyl oxidase as a critical intra- and extracellular target for cigarette smoke pathogenesis in the lung.
Title: Lysyl oxidase, a critical intra- and extra-cellular target in the lung for cigarette smoke pathogenesis.

Submit: New GeneRIF Correction See all (59)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_002308.2		DHDDS	BIND	PubMed	HDS interacts with LO.
P28300	Q86SQ9	DHDDS	HPRD	PubMed
P28300	Q07507	DPT	HPRD	PubMed
P28300	P15502	ELN	HPRD	PubMed
P28300	P16401	HIST1H1B	HPRD	PubMed
P28300	P06899	HIST1H2BJ	HPRD	PubMed
P28300	P28300	LOX	HPRD	PubMed
BioGRID:110199	BioGRID:123018	DHDDS	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
copper ion binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
protein-lysine 6-oxidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
blood vessel development	IEA Inferred from Electronic Annotation more info
collagen fibril organization	IEA Inferred from Electronic Annotation more info
elastic fiber assembly	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
protein modification process	TAS Traceable Author Statement more info	PubMed
response to drug	IEA Inferred from Electronic Annotation more info
response to steroid hormone stimulus	IEA Inferred from Electronic Annotation more info
wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
collagen	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein-lysine 6-oxidase

Names: protein-lysine 6-oxidase

NP_001171573.1

EC 1.4.3.13

NP_002308.2

EC 1.4.3.13

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NCBI Reference Sequences (RefSeq)

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

5001..20166

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC010255, CN265862

UniProtKB/TrEMBL

B7ZAJ4

Conserved Domains (1) summary

pfam01186
Location:1 – 187
Blast Score: 869

Lysyl_oxidase; Lysyl oxidase
NM_002317.5 → NP_002308.2 protein-lysine 6-oxidase isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC010255, BC089436

Consensus CDS

CCDS4129.1

UniProtKB/TrEMBL

D0PNI2

UniProtKB/Swiss-Prot

P28300

Related

ENSP00000231004, OTTHUMP00000159161, ENST00000231004, OTTHUMT00000250887

Conserved Domains (1) summary

pfam01186
Location:213 – 417
Blast Score: 993

Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

121398890..121414055, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

116590466..116605632, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC010255.9 (117792..132957)	None
genomic	AF039290.1	AAD10703.1
genomic	AF270645.2	AAK58603.1
genomic	CH471086.2	EAW48898.1
genomic	EF094938.1	ABO15004.1
genomic	L16895.1	AAA16870.1
genomic	M84150.1	AAA59541.1
mRNA	AF039291.1	AAD02130.1
mRNA	AI536895.1	None
mRNA	AK297709.1	BAG60066.1
mRNA	AK298781.1	BAG60920.1
mRNA	AK307559.1	None
mRNA	AK307732.1	None
mRNA	AK312269.1	BAG35200.1
mRNA	AK315873.1	BAF98764.1
mRNA	AK316309.1	BAH14680.1
mRNA	BC074820.2	AAH74820.1
mRNA	BC074872.2	AAH74872.1
mRNA	BC089436.1	AAH89436.1
mRNA	CN265862.1	None
mRNA	DA461370.1	None
mRNA	M94054.1	AAA59525.1
mRNA	S45875.1	AAB23549.1
mRNA	S78694.1	AAB21243.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P28300.2	GenPept	UniProtKB/Swiss-Prot:P28300
Q71V04	GenPept	UniProtKB/TrEMBL:Q71V04
Q96PQ9	GenPept	UniProtKB/TrEMBL:Q96PQ9