U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ALOX5AP arachidonate 5-lipoxygenase activating protein [ Homo sapiens (human) ]

Gene ID: 241, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
ALOX5APprovided by HGNC
Official Full Name
arachidonate 5-lipoxygenase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:436
See related
Ensembl:ENSG00000132965 MIM:603700; AllianceGenome:HGNC:436
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
FLAP
Summary
This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
Expression
Broad expression in bone marrow (RPKM 94.5), lung (RPKM 39.9) and 14 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ALOX5AP in Genome Data Viewer
Location:
13q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (30713485..30764426)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (29935580..29986538)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31287622..31338563)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7542 Neighboring gene ubiquitin specific peptidase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31233439-31234198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5236 Neighboring gene tRNA-Asn (anticodon GTT) 2-4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7544 Neighboring gene MPRA-validated peak2063 silencer Neighboring gene uncharacterized LOC124903146 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:31312711-31312902 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:31317812-31319011 Neighboring gene VISTA enhancer hs1515 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:31372741-31373940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:31379396-31379896 Neighboring gene long intergenic non-protein coding RNA 398 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:31398576-31399105 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:31401421-31402065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31436564-31437514 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31437515-31438463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:31445187-31445996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31445997-31446806 Neighboring gene long intergenic non-protein coding RNA 545 Neighboring gene TEX26 antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma.
    Title: Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma.
  2. ALOX5AP suppresses osteosarcoma progression via Wnt/beta-catenin/EMT pathway and associates with clinical prognosis and immune infiltration.
    Title: ALOX5AP suppresses osteosarcoma progression via Wnt/β-catenin/EMT pathway and associates with clinical prognosis and immune infiltration.
  3. ASSOCIATION BETWEEN SINGLE POLYMORPHISM IN THE LOCUS RS17216473 OF THE GENE THAT ENCODES 5-LIPOXYGENASE-ACTIVATING PROTEIN AND RISK OF MYOCARDIAL INFARCTION.
    Title: ASSOCIATION BETWEEN SINGLE POLYMORPHISM IN THE LOCUS RS17216473 OF THE GENE THAT ENCODES 5-LIPOXYGENASE-ACTIVATING PROTEIN AND RISK OF MYOCARDIAL INFARCTION.
  4. Key genes with prognostic values in suppression of osteosarcoma metastasis using comprehensive analysis.
    Title: Key genes with prognostic values in suppression of osteosarcoma metastasis using comprehensive analysis.
  5. the study was designed to investigate the association between the polymorphism of the ALOX5 gene (rs12762303) and the ALOX5AP gene (rs3802278), and diabetic nephropathy (DN) in patients with type 2 diabetes mellitus.
    Title: The ALOXA5AP gene (rs38022789) is associated with diabetic nephropathy in Slovenian patients with type 2 diabetes mellitus.
  6. genotype AA, AG and allele A, G of ALOX5 rs2029253, as well as ALOX5AP rs10507391 may be correlate with the susceptibility to myeloid leukemia
    Title: [Relationship between Polymorphism in ALOX5, ALOX5AP and Susceptibility to Myeloid Leukemia].
  7. Data support the conclusion that the presence of FLAP reduces triple K mutant-5-LOX product formation to wild type-5-LOX levels.
    Title: A 5‑lipoxygenase-specific sequence motif impedes enzyme activity and confers dependence on a partner protein.
  8. Our study showed that ALOX5AP rs10507391 was associated with total cholesterol (TC) levels but we didn't observe any association between rs10507391 and the risk of myocardial infarction
    Title: Genetic variation in the leukotriene pathway is associated with myocardial infarction in the Chinese population.
  9. Two-stage association study to screen the positive CpG-SNPs of ALOX5AP gene, then explored the relationship among CpG-SNPs, methylation levels, and mRNA expression levels. Findings showed that CpG-SNP rs4073259 associated with ischemic stroke affected DNA methylation and then regulated the mRNA expression via allele-specific DNA methylation.
    Title: Allele-specific methylation contributed by CpG-SNP is associated with regulation of ALOX5AP gene expression in ischemic stroke.
  10. This meta-analysis indicates that ALOX5AP rs17222919-1316T/G may be a protective factor against stroke.
    Title: Association between the polymorphism (rs17222919, -1316T/G) of 5-lipoxygenase-activating protein gene (ALOX5AP) and the risk of stroke: A meta analysis.
Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ischemic stroke
MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
A genome-wide association study for reading and language abilities in two population cohorts.
EBI GWAS Catalog
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arachidonate 5-lipoxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables arachidonate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme activator activity IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables glutathione peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutathione transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables leukotriene-C4 synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to calcium ion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in leukotriene biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in leukotriene biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in leukotriene production involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in lipoxygenase pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of acute inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homotrimerization IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
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 membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
arachidonate 5-lipoxygenase-activating protein
Names
MK-886-binding protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_011963.2 RefSeqGene

    Range
    27066..55949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204406.2 → NP_001191335.1  arachidonate 5-lipoxygenase-activating protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' sequence which includes an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) is longer at the N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK314143, BC018538
    Consensus CDS
    CCDS73558.1
    UniProtKB/TrEMBL
    A0A087WW23
    Related
    ENSP00000479870.1, ENST00000617770.4
    Conserved Domains (1) summary
    pfam01124
    Location:66 → 185
    MAPEG; MAPEG family

  2. NM_001629.4 → NP_001620.2  arachidonate 5-lipoxygenase-activating protein isoform 1

    See identical proteins and their annotated locations for NP_001620.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1).
    Source sequence(s)
    BC018538, BG569867
    Consensus CDS
    CCDS9337.1
    UniProtKB/Swiss-Prot
    P20292, Q5VV04
    Related
    ENSP00000369858.3, ENST00000380490.5
    Conserved Domains (1) summary
    pfam01124
    Location:9 → 128
    MAPEG; MAPEG family

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    30713485..30764426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020522.3 → XP_016876011.1  arachidonate 5-lipoxygenase-activating protein isoform X1

    Conserved Domains (1) summary
    pfam01124
    Location:18 → 88
    MAPEG; MAPEG family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    29935580..29986538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374382.1 → XP_054230357.1  arachidonate 5-lipoxygenase-activating protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20292.2 GenPept UniProtKB/Swiss-Prot:P20292

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous