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    ALOX5 arachidonate 5-lipoxygenase [ Homo sapiens (human) ]

    Gene ID: 240, updated on 27-Nov-2024

    Summary

    Official Symbol
    ALOX5provided by HGNC
    Official Full Name
    arachidonate 5-lipoxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:435
    See related
    Ensembl:ENSG00000012779 MIM:152390; AllianceGenome:HGNC:435
    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
    5-LO; 5LPG; LOG5; 5-LOX
    Summary
    This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Broad expression in bone marrow (RPKM 35.1), lung (RPKM 26.8) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALOX5 in Genome Data Viewer
    Location:
    10q11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (45374216..45446117)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46255243..46327106)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (45869664..45941565)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 6 subfamily D member 1 pseudogene Neighboring gene olfactory receptor family 13 subfamily A member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:45839254-45839455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45869432-45870042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45870043-45870651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45914387-45915080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45915081-45915772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45915801-45916302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45921315-45921815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45923135-45923798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45928214-45928753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45928754-45929292 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:45933181-45934380 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:45937030-45937261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45937618-45938388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45938389-45939157 Neighboring gene uncharacterized LOC102724323 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:45958734-45959933 Neighboring gene uncharacterized LOC105378286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45970297-45970798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45970799-45971298 Neighboring gene membrane associated ring-CH-type finger 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45998823-45999323 Neighboring gene VISTA enhancer hs2065 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:46070300-46070960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:46086550-46087050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2346 Neighboring gene zinc finger AN1-type containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2347

    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
    Inherited susceptibility to asthma
    MedGen: C1869116 OMIM: 600807 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of arachidonate 5-lipoxygenase (ALOX5) in human B cells PubMed
    env HIV-1 gp120 increases the intracellular concentrations of prostaglandin E2 and leukotriene B4 by upregulating the activity and expression of the arachidonate-metabolizing enzymes prostaglandin H synthase and 5-lipoxygenase, respectively PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arachidonate 12(S)-lipoxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables arachidonate 5-lipoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables arachidonate 5-lipoxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables arachidonate 5-lipoxygenase activity TAS
    Traceable Author Statement
    more info
     
    enables arachidonate 8(S)-lipoxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in arachidonate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendritic cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in humoral immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in leukocyte chemotaxis involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leukocyte migration involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in leukotriene A4 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukotriene A4 biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leukotriene biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukotriene metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in leukotriene production involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lipoxin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipoxygenase pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lipoxygenase pathway TAS
    Traceable Author Statement
    more info
     
    involved_in long-chain fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of sprouting angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of leukocyte adhesion to arterial endothelial cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of inflammatory response to wounding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of reactive oxygen species biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    located_in nuclear envelope lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    polyunsaturated fatty acid 5-lipoxygenase
    Names
    LOX-5
    arachidonic acid 5-lipoxygenase
    leukotriene A4 synthase
    NP_000689.1
    NP_001243082.1
    NP_001243083.1
    NP_001307790.1
    NP_001307791.1
    XP_047280890.1
    XP_047280892.1
    XP_047280893.1
    XP_054185533.1
    XP_054185534.1
    XP_054185535.1
    XP_054221354.1
    XP_054221355.1
    XP_054221356.1

    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_011437.1 RefSeqGene

      Range
      5036..76937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000698.5NP_000689.1  polyunsaturated fatty acid 5-lipoxygenase isoform 1

      See identical proteins and their annotated locations for NP_000689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AW403395, BC132677
      Consensus CDS
      CCDS7212.1
      UniProtKB/Swiss-Prot
      B7ZLS0, E5FPY5, E5FPY7, E5FPY8, P09917, Q5JQ14
      Related
      ENSP00000363512.2, ENST00000374391.7
      Conserved Domains (2) summary
      cd01753
      Location:2115
      PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
      cl27717
      Location:227665
      Lipoxygenase; Lipoxygenase
    2. NM_001256153.3NP_001243082.1  polyunsaturated fatty acid 5-lipoxygenase isoform 2

      See identical proteins and their annotated locations for NP_001243082.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK225603, AK315223, AW403395, BC132677
      UniProtKB/Swiss-Prot
      P09917
      Conserved Domains (2) summary
      cd01753
      Location:2115
      PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
      pfam00305
      Location:227633
      Lipoxygenase; Lipoxygenase
    3. NM_001256154.3NP_001243083.1  polyunsaturated fatty acid 5-lipoxygenase isoform 3

      See identical proteins and their annotated locations for NP_001243083.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AW403395, BC143985
      Consensus CDS
      CCDS58078.1
      UniProtKB/Swiss-Prot
      P09917
      Related
      ENSP00000437634.1, ENST00000542434.5
      Conserved Domains (2) summary
      cd01753
      Location:2115
      PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
      pfam00305
      Location:227608
      Lipoxygenase; Lipoxygenase
    4. NM_001320861.2NP_001307790.1  polyunsaturated fatty acid 5-lipoxygenase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL731567, AW403395, BC132677
      UniProtKB/Swiss-Prot
      P09917
      Conserved Domains (2) summary
      cd01753
      Location:2115
      PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
      pfam00305
      Location:227636
      Lipoxygenase; Lipoxygenase
    5. NM_001320862.2NP_001307791.1  polyunsaturated fatty acid 5-lipoxygenase isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at a downstream start site compared to variant 1. The encoded isoform (5) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AW403395, BC143986
      Conserved Domains (1) summary
      pfam00305
      Location:82520
      Lipoxygenase; Lipoxygenase

    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

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      45374216..45446117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424934.1XP_047280890.1  polyunsaturated fatty acid 5-lipoxygenase isoform X1

    2. XM_047424936.1XP_047280892.1  polyunsaturated fatty acid 5-lipoxygenase isoform X2

    3. XM_047424937.1XP_047280893.1  polyunsaturated fatty acid 5-lipoxygenase isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315935.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      215047..286948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329558.1XP_054185533.1  polyunsaturated fatty acid 5-lipoxygenase isoform X1

    2. XM_054329559.1XP_054185534.1  polyunsaturated fatty acid 5-lipoxygenase isoform X2

    3. XM_054329560.1XP_054185535.1  polyunsaturated fatty acid 5-lipoxygenase isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      46255243..46327106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365379.1XP_054221354.1  polyunsaturated fatty acid 5-lipoxygenase isoform X1

    2. XM_054365380.1XP_054221355.1  polyunsaturated fatty acid 5-lipoxygenase isoform X2

    3. XM_054365381.1XP_054221356.1  polyunsaturated fatty acid 5-lipoxygenase isoform X3