Alox12b arachidonate 12-lipoxygenase, 12R type [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alox12bprovided by MGI
Official Full Name: arachidonate 12-lipoxygenase, 12R typeprovided by MGI
Primary source: MGI:MGI:1274782
See related: Ensembl:ENSMUSG00000032807 AllianceGenome:MGI:1274782
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Aloxe2; e-LOX2; 12R-LOX
Summary: This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene can prevent the formation of the epidermal permeability barrier and cause an ichthyosiform phenotype. [provided by RefSeq, Sep 2015]
Expression: Biased expression in stomach adult (RPKM 18.4), lung adult (RPKM 9.8) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 42.38 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (69047898..69060617)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (69157072..69169791)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
Title: ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
Title: Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis. [review]
Title: The role of lipoxygenases in epidermis.
Alox12b-deficient mouse skin transplants have an ichthyosiform phenotype
Title: Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.
The 12R-LOX-eLOX-3 pathway plays a key role in the process of epidermal barrier acquisition by affecting lipid metabolism, as well as protein processing.
Title: 12R-lipoxygenase deficiency disrupts epidermal barrier function.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

Alox12b (e-PCR), detects polymorphism
- UniSTS:502651

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables arachidonate 12(R)-lipoxygenase activity	IEA Inferred from Electronic Annotation more info
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 12(S)-lipoxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables arachidonate 12(S)-lipoxygenase activity	ISO Inferred from Sequence Orthology more info
enables arachidonate 8(R)-lipoxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables linoleate 9S-lipoxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ISO Inferred from Sequence Orthology more info

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in arachidonate metabolic process	ISO Inferred from Sequence Orthology more info
NOT involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hepoxilin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hepoxilin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in hepoxilin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in linoleic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in linoleic acid 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 lipid oxidation	IEA Inferred from Electronic Annotation more info
involved_in lipoxygenase pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipoxygenase pathway	ISO Inferred from Sequence Orthology more info
involved_in lipoxygenase pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mucus secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mucus secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein lipidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingolipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: arachidonate 12-lipoxygenase, 12R-type

Names: 12R-lipoxygenase; epidermis-type lipoxygenase 12; epidermis-type lipoxygenase 2

NP_033789.1

EC 1.13.11.-

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_009659.2 → NP_033789.1 arachidonate 12-lipoxygenase, 12R-type

See identical proteins and their annotated locations for NP_033789.1

Status: REVIEWED

Source sequence(s)

AL645527

Consensus CDS

CCDS24885.1

UniProtKB/Swiss-Prot

O70582

UniProtKB/TrEMBL

Q2KHL0

Related

ENSMUSP00000035250.3, ENSMUST00000036424.3

Conserved Domains (2) summary

cd01753
Location:2 → 116

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:163 → 681

Lipoxygenase; Lipoxygenase