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

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and pigALOX15-mini-LOX.
Title: Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and pigALOX15-mini-LOX.
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.
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.
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.
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.
ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
Title: ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
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.
Regulation of Tissue Inflammation by 12-Lipoxygenases.
Title: Regulation of Tissue Inflammation by 12-Lipoxygenases.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

csnpalox12-pcr1-1 (e-PCR)
- UniSTS:242983

SHGC-12725 (e-PCR)
- UniSTS:67637

GDB:607713 (e-PCR)
- UniSTS:158269

WI-17813 (e-PCR)
- UniSTS:18653

RH122370 (e-PCR)
- UniSTS:138467

RH102167 (e-PCR)
- UniSTS:96501

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 more info	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

EC 1.13.11.31

EC 1.13.11.33

XP_011522082.2

EC 1.13.11.31

EC 1.13.11.33

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)

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