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

    Gene ID: 4016, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000137595
    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]
    Orthologs
    Location:
    15q24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (73926451..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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
     
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    lysyl oxidase homolog 1
    Names
    lysyl oxidase-like protein 1
    NP_005567.2

    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_005576.3NP_005567.2  lysyl oxidase homolog 1 preproprotein

      See identical proteins and their annotated locations for NP_005567.2

      Status: REVIEWED

      Source sequence(s)
      AI565419, BC015090, BC068542, BE205920
      Consensus CDS
      CCDS10253.1
      UniProtKB/Swiss-Prot
      Q08397
      Related
      ENSP00000261921.7, OTTHUMP00000174929, ENST00000261921.7, OTTHUMT00000268995
      Conserved Domains (1) summary
      pfam01186
      Location:370566
      Lysyl_oxidase; Lysyl oxidase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      73926451..73952141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521555.1XP_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_931824.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      74336776..74362444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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