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ALOX12 arachidonate 12-lipoxygenase, 12S type [ Homo sapiens (human) ]

Gene ID: 239, updated on 2-Nov-2024

Summary

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Official Symbol
ALOX12provided by HGNC
Official Full Name
arachidonate 12-lipoxygenase, 12S typeprovided by HGNC
Primary source
HGNC:HGNC:429
See related
Ensembl:ENSG00000108839 MIM:152391; AllianceGenome:HGNC:429
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
LOG12; 12-LOX; 12S-LOX
Summary
This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
Expression
Broad expression in esophagus (RPKM 11.1), skin (RPKM 5.2) and 15 other tissues See more
Orthologs
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Genomic context

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See ALOX12 in Genome Data Viewer
Location:
17p13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6996049..7010754)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6896743..6911368)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6899368..6914073)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Spi-C transcription factor pseudogene 3 Neighboring gene uncharacterized LOC124903906 Neighboring gene ALOX12 antisense RNA 1 Neighboring gene RNASEK-C17orf49 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6915304-6915924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11593 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6917563-6918063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6918414-6918914 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:6919327-6920526 Neighboring gene ribonuclease K Neighboring gene mir-497-195 cluster host gene Neighboring gene BPTF associated chromatin complex component 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood. Morales E, et al. Am J Respir Crit Care Med, 2012 May 1. PMID 22323304
  2. Human platelet 12-lipoxygenase: naturally occurring Q261/R261 variants and N544L mutant show altered activity but unaffected substrate binding and membrane association behavior. Aleem AM, et al. Int J Mol Med, 2009 Dec. PMID 19885615
  3. ALOX12 gene is associated with the onset of natural menopause in white women. Liu P, et al. Menopause, 2010 Jan-Feb. PMID 20061896, Free PMC Article
  4. 12-Lipoxygenase Products Reduce Insulin Secretion and {beta}-Cell Viability in Human Islets. Ma K, et al. J Clin Endocrinol Metab, 2010 Feb. PMID 20089617, Free PMC Article
  5. Association between polymorphisms of arachidonate 12-lipoxygenase (ALOX12) and schizophrenia in a Korean population. Kim T, et al. Behav Brain Funct, 2010 Jul 14. PMID 20626912, Free PMC Article

See all (168) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and pigALOX15-mini-LOX.
    Title: Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and pigALOX15-mini-LOX.
  2. Biochemical and hydrogen-deuterium exchange studies of the single nucleotide polymorphism Y649C in human platelet 12-lipoxygenase linked to a bleeding disorder.
    Title: Biochemical and hydrogen-deuterium exchange studies of the single nucleotide polymorphism Y649C in human platelet 12-lipoxygenase linked to a bleeding disorder.
  3. ALOX12: A Novel Insight in Bevacizumab Response, Immunotherapy Effect, and Prognosis of Colorectal Cancer.
    Title: ALOX12: A Novel Insight in Bevacizumab Response, Immunotherapy Effect, and Prognosis of Colorectal Cancer.
  4. Key Role of 12-Lipoxygenase and Its Metabolite 12-Hydroxyeicosatetraenoic Acid (12-HETE) in Diabetic Retinopathy.
    Title: Key Role of 12-Lipoxygenase and Its Metabolite 12-Hydroxyeicosatetraenoic Acid (12-HETE) in Diabetic Retinopathy.
  5. Platelets induce free and phospholipid-esterified 12-hydroxyeicosatetraenoic acid generation in colon cancer cells by delivering 12-lipoxygenase.
    Title: Platelets induce free and phospholipid-esterified 12-hydroxyeicosatetraenoic acid generation in colon cancer cells by delivering 12-lipoxygenase.
  6. ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
    Title: ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
  7. Antisense overlapping long non-coding RNA regulates coding arachidonate 12-lipoxygenase gene by translational interference.
    Title: Antisense overlapping long non-coding RNA regulates coding arachidonate 12-lipoxygenase gene by translational interference.
  8. Regulation of Tissue Inflammation by 12-Lipoxygenases.
    Title: Regulation of Tissue Inflammation by 12-Lipoxygenases.
  9. Promoter methylation changes in ALOX12 and AIRE1: novel epigenetic markers for atherosclerosis.
    Title: Promoter methylation changes in ALOX12 and AIRE1: novel epigenetic markers for atherosclerosis.
  10. The SP1-12LOX axis promotes chemoresistance and metastasis of ovarian cancer.
    Title: The SP1-12LOX axis promotes chemoresistance and metastasis of ovarian cancer.
Submit: New GeneRIF Correction See all GeneRIFs (115)

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arachidonate 12(S)-lipoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arachidonate 12(S)-lipoxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables arachidonate 15-lipoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arachidonate 15-lipoxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hepoxilin-epoxide hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables linoleate 13S-lipoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables linoleate 13S-lipoxygenase activity 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 arachidonate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in arachidonate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in establishment of skin barrier ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid oxidation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in hepoxilin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT involved_in leukotriene A4 metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in leukotriene A4 metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in linoleic acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in linoleic acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipoxin A4 biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipoxin B4 biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipoxygenase pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipoxygenase pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of muscle cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in superoxide anion generation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in unsaturated fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcolemma IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polyunsaturated fatty acid lipoxygenase ALOX12
Names
12S-lipoxygenase
Arachidonate 12-lipoxygenase, 12S-type
arachidonate (12S)-lipoxygenase
arachidonate (15S)-lipoxygenase
arachidonate 15-lipoxygenase,15S-type
linoleate 13S-lipoxygenase
lipoxin synthase 12-LO
platelet 12-LOX
platelet-type 12-lipoxygenase
platelet-type lipoxygenase 12
NP_000688.2
XP_011522082.2

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.

mRNA and Protein(s)

  1. NM_000697.3 → NP_000688.2  polyunsaturated fatty acid lipoxygenase ALOX12

    See identical proteins and their annotated locations for NP_000688.2

    Status: REVIEWED

    Source sequence(s)
    AC040977, M58704
    Consensus CDS
    CCDS11084.1
    UniProtKB/Swiss-Prot
    O95569, P18054, Q6ISF8, Q9UQM4
    Related
    ENSP00000251535.6, ENST00000251535.11
    Conserved Domains (2) summary
    cd01753
    Location:2 → 111
    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:161 → 654
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    6996049..7010754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523780.3 → XP_011522082.2  polyunsaturated fatty acid lipoxygenase ALOX12 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    6896743..6911368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18054.4 GenPept UniProtKB/Swiss-Prot:P18054

Gene LinkOut

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