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

    Gene ID: 4016, updated on 17-Jun-2024

    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
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    Genomic context

    See LOXL1 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73926462..73952136)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71743808..71769482)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74218803..74244477)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74173695-74174256 Neighboring gene TBC1 domain family member 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74179454-74179712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74194653-74195154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74214297-74215284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74215285-74216270 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74219309-74220142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74220143-74220976 Neighboring gene Sharpr-MPRA regulatory region 13651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74229856-74230455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74232882-74233777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74244872-74245555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6644 Neighboring gene stomatin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74289929-74290431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9739 Neighboring gene PML nuclear body scaffold Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74311530-74311700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74329432-74330313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74333577-74334149 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74338704-74338895

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 peptidyl-lysine oxidation 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
     

    General protein information

    Preferred Names
    lysyl oxidase homolog 1
    Names
    lysyl oxidase-like protein 1
    NP_005567.2
    XP_011519857.1
    XP_016877668.1
    XP_047288454.1
    XP_054233876.1
    XP_054233877.1
    XP_054233878.1

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_011466.1 RefSeqGene

      Range
      5015..30689
      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, Q6NUL3, Q96BW7
      Related
      ENSP00000261921.7, ENST00000261921.8
      Conserved Domains (1) summary
      pfam01186
      Location:370566
      Lysyl_oxidase; Lysyl oxidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      73926462..73952136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      H3BUV8
      Related
      ENSP00000457827.1, ENST00000566011.5
    2. XM_011521555.3XP_011519857.1  lysyl oxidase homolog 1 isoform X1

      Conserved Domains (1) summary
      PRK14086
      Location:240435
      dnaA; chromosomal replication initiation protein; Provisional
    3. XM_017022179.2XP_016877668.1  lysyl oxidase homolog 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      71743808..71769482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377902.1XP_054233877.1  lysyl oxidase homolog 1 isoform X2

    2. XM_054377901.1XP_054233876.1  lysyl oxidase homolog 1 isoform X1

    3. XM_054377903.1XP_054233878.1  lysyl oxidase homolog 1 isoform X3