Format

Send to:

Choose Destination

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

Gene ID: 4016, updated on 15-Apr-2019

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
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

Genomic context

See LOXL1 in Genome Data Viewer
Location:
15q24.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (73926458..73952141)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74218789..74244478)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723657 Neighboring gene TBC1 domain family member 21 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene stomatin like 1 Neighboring gene promyelocytic leukemia

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pseudoexfoliation glaucoma
MedGen: C0206368 OMIM: 177650 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
    Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
protein-lysine 6-oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
aorta development IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
peptidyl-lysine oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deamination TAS
Traceable Author Statement
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
basement membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
lysyl oxidase homolog 1
Names
lysyl oxidase-like protein 1

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

  1. NG_011466.1 RefSeqGene

    Range
    5011..30694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005576.4NP_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
    Related
    ENSP00000261921.7, ENST00000261921.8
    Conserved Domains (1) summary
    pfam01186
    Location:370566
    Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    73926458..73952141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521555.2XP_011519857.1  lysyl oxidase homolog 1 isoform X1

    Conserved Domains (1) summary
    PRK14086
    Location:240435
    dnaA; chromosomal replication initiation protein; Provisional
  2. XM_017022179.1XP_016877668.1  lysyl oxidase homolog 1 isoform X2

RNA

  1. XR_931824.2 RNA Sequence

Support Center