LOXL1 lysyl oxidase like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LOXL1provided by HGNC
Official Full Name: lysyl oxidase like 1provided by HGNC
Primary source: HGNC:HGNC:6665
See related: Ensembl:ENSG00000129038 MIM:153456; AllianceGenome:HGNC:6665
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: LOL; LOXL
Summary: This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]
Expression: Broad expression in heart (RPKM 6.9), prostate (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (73926462..73952136)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (71743808..71769482)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (74218803..74244477)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
LOXL1 promotes tumor cell malignancy and restricts CD8 + T cell infiltration in colorectal cancer.
Title: LOXL1 promotes tumor cell malignancy and restricts CD8 + T cell infiltration in colorectal cancer.
Mechanism of lysine oxidase-like 1 promoting synovial inflammation mediating rheumatoid arthritis development.
Title: Mechanism of lysine oxidase-like 1 promoting synovial inflammation mediating rheumatoid arthritis development.
Single nucleotide polymorphisms in LOXL1 as biomarkers for progression of exfoliation glaucoma in Sweden.
Title: Single nucleotide polymorphisms in LOXL1 as biomarkers for progression of exfoliation glaucoma in Sweden.
The rs2165241 polymorphism of the Loxl1 gene in postmenopausal women with pelvic organ prolapse.
Title: The rs2165241 polymorphism of the Loxl1 gene in postmenopausal women with pelvic organ prolapse.
Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India.
Title: Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India.
Inhibition of LOXL1-AS1 alleviates oxidative low-density lipoprotein induced angiogenesis via downregulation of miR-590-5p mediated KLF6/VEGF signaling pathway.
Title: Inhibition of LOXL1-AS1 alleviates oxidative low-density lipoprotein induced angiogenesis via downregulation of miR-590-5p mediated KLF6/VEGF signaling pathway.
Knockdown of lysyl oxidase like 1 inhibits the proliferation and pro-fibrotic effects of transforming growth factor-beta1-induced hypertrophic scar fibroblasts.
Title: Knockdown of lysyl oxidase like 1 inhibits the proliferation and pro-fibrotic effects of transforming growth factor-β1-induced hypertrophic scar fibroblasts.
Association of Single Nucleotide Polymorphisms Located in LOXL1 with Exfoliation Glaucoma in Southwestern Sweden.
Title: Association of Single Nucleotide Polymorphisms Located in LOXL1 with Exfoliation Glaucoma in Southwestern Sweden.
Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.
Title: Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.

Submit: New GeneRIF Correction See all GeneRIFs (150)

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
Pseudoexfoliation glaucoma MedGen: C0206368 OMIM: 177650 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G59811 (e-PCR)
- UniSTS:136960

RH80820 (e-PCR)
- UniSTS:86301

D15S818 (e-PCR), detects polymorphism
- UniSTS:75306

WI-18919 (e-PCR)
- UniSTS:73132

SHGC-106501 (e-PCR)
- UniSTS:169903

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein deamination	TAS Traceable Author Statement more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
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: lysyl oxidase homolog 1

Names: lysyl oxidase-like protein 1

NP_005567.2

EC 1.4.3.13

XP_011519857.1

EC 1.4.3.13

XP_016877668.1

EC 1.4.3.13

XP_047288454.1

EC 1.4.3.13

XP_054233876.1

EC 1.4.3.13

XP_054233877.1

EC 1.4.3.13

XP_054233878.1

EC 1.4.3.13

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

NG_011466.1 RefSeqGene

Range

5015..30689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005576.4 → NP_005567.2 lysyl oxidase homolog 1 preproprotein

See identical proteins and their annotated locations for NP_005567.2

Status: REVIEWED

Source sequence(s)

BC015090, BC068542, BE205920

Consensus CDS

CCDS10253.1

UniProtKB/Swiss-Prot

Q08397, Q6NUL3, Q96BW7

Related

ENSP00000261921.7, ENST00000261921.8

Conserved Domains (1) summary

pfam01186
Location:370 → 566

Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

73926462..73952136

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432498.1 → XP_047288454.1 lysyl oxidase homolog 1 isoform X2

UniProtKB/TrEMBL

H3BUV8

Related

ENSP00000457827.1, ENST00000566011.5
XM_011521555.3 → XP_011519857.1 lysyl oxidase homolog 1 isoform X1

Conserved Domains (1) summary

PRK14086
Location:240 → 435

dnaA; chromosomal replication initiation protein; Provisional
XM_017022179.2 → XP_016877668.1 lysyl oxidase homolog 1 isoform X3