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

Gene ID: 241, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000016677
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

Genomic context

See ALOX5AP in Genome Data Viewer
Location:
13q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (30713478..30764428)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31287615..31338565)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase like 1 Neighboring gene transfer RNA-Asn (GTT) 2-4 Neighboring gene VISTA enhancer hs1515 Neighboring gene long intergenic non-protein coding RNA 398

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Arachidonic acid metabolism, organism-specific biosystem (from REACTOME)
    Arachidonic acid metabolism, organism-specific biosystemEicosanoids, oxygenated, 20-carbon fatty acids, are autocrine and paracrine signaling molecules that modulate physiological processes including pain, fever, inflammation, blood clot formation, smooth...
  • Eicosanoid Synthesis, organism-specific biosystem (from WikiPathways)
    Eicosanoid Synthesis, organism-specific biosystemIn biochemistry, eicosanoids are signaling molecules made by oxidation of twenty-carbon essential fatty acids, (EFAs). They exert complex control over many bodily systems, mainly in inflammation or i...
  • Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
    Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
  • Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
    Fc epsilon RI signaling pathway, conserved biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
    Selenium Micronutrient Network, organism-specific biosystem
    Selenium Micronutrient Network
  • Synthesis of 5-eicosatetraenoic acids, organism-specific biosystem (from REACTOME)
    Synthesis of 5-eicosatetraenoic acids, organism-specific biosystem5-hydroperoxy-eicosatetraenoic acid (5-HpETE), 5-hydroxyeicosatetraenoic acid (5S-HETE) and 5-oxo-eicosatetraenoic acid (5-oxoETE) are formed after the initial step of arachidonic acid oxidation by ...
  • Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystem (from REACTOME)
    Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystemLeukotrienes (LTs) are biologically active molecules formed in response to inflammatory stimuli. They cause contraction of bronchial smooth muscles, stimulation of vascular permeability, and attracti...
  • Synthesis of Lipoxins (LX), organism-specific biosystem (from REACTOME)
    Synthesis of Lipoxins (LX), organism-specific biosystemLipoxins A4 (LXA4) and B4 (LXB4), structurally characterized from human neutrophils incubated with 15-hydroperoxy-eicosatetraenoic acid (15-HpETE), each contain three hydroxyl moieties and a conjugat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arachidonic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme activator activity IEA
Inferred from Electronic Annotation
more info
 
glutathione peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukotriene-C4 synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
leukotriene biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukotriene biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
protein homotrimerization IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
arachidonate 5-lipoxygenase-activating protein
Names
MK-886-binding protein

NCBI Reference Sequences (RefSeq)

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
    27031..55951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204406.1NP_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, BQ003388
    Consensus CDS
    CCDS73558.1
    UniProtKB/Swiss-Prot
    P20292
    UniProtKB/TrEMBL
    A0A087WW23
    Related
    ENSP00000479870.1, ENST00000617770.4
    Conserved Domains (1) summary
    pfam01124
    Location:66185
    MAPEG; MAPEG family
  2. NM_001629.3NP_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, BQ003388
    Consensus CDS
    CCDS9337.1
    UniProtKB/Swiss-Prot
    P20292
    Related
    ENSP00000369858.3, OTTHUMP00000018204, ENST00000380490.4, OTTHUMT00000044372
    Conserved Domains (1) summary
    pfam01124
    Location:9128
    MAPEG; MAPEG family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    30713478..30764428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020522.2XP_016876011.1  arachidonate 5-lipoxygenase-activating protein isoform X1

    Conserved Domains (1) summary
    pfam01124
    Location:1888
    MAPEG; MAPEG family
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