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ALOX5AP Gene

protein-coding   GIFtS: 65
GCID: GC13P031309

Arachidonate 5-Lipoxygenase-Activating Protein

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arachidonate 5-Lipoxygenase-Activating Protein1 2
MK-886-Binding Protein1 2 3
FLAP2 3 5
Five-Lipoxygenase Activating Protein1

External Ids:    HGNC: 4361   Entrez Gene: 2412   Ensembl: ENSG000001329657   OMIM: 6037005   UniProtKB: P202923   

Export aliases for ALOX5AP gene to outside databases

Previous GC identifers: GC13P029289 GC13P025289 GC13P030239 GC13P029108 GC13P029109 GC13P030207 GC13P012127


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALOX5AP Gene:
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)

GeneCards Summary for ALOX5AP Gene:
ALOX5AP (arachidonate 5-lipoxygenase-activating protein) is a protein-coding gene. Diseases associated with ALOX5AP include cadasil, and psoriasis. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is LTC4S.

UniProtKB/Swiss-Prot: AL5AP_HUMAN, P20292
Function: Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds
arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886,
a compound that blocks the biosynthesis of leukotrienes

summary for ALOX5AP Gene:
Lipoxygenases (LOXs) are a family of non-heme iron dioxygenases that are involved in the production and
metabolism of fatty acid hydroperoxidases. There are six lipoxygenase isozymes; 5-LOX, 12R-LOX, 12S-LOX,
15-LOX-1 and 15-LOX-2, which catalyze the regio-selective addition of oxygen into arachidonic acid, and
epidermal LOX (E-LOX) which metabolizes 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE) to a specific
epoxyalcohol compound. Different isozymes have different physiological roles; 5-, 12R-, 12S- and 15-LOX-1
have proliferative, antiapoptotic and angiogenic functions whilst 15-LOX-2 has roles in differentiation,
growth arrest and the induction of apoptosis. E-LOX, the most divergent member of this family, is involved
in terminal differentiation of keratinocytes and has a major role in skin barrier function. Perturbations in
lipoxygenase enzymes have been implicated in various human diseases including bronchial asthma,
atherosclerosis, osteoporosis and some cancers.

Gene Wiki entry for ALOX5AP (5-lipoxygenase-activating protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALOX5AP gene promoter:
         GR   STAT1   AML1a   AP-1   GATA-3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALOX5AP promoter sequence
   Search Chromatin IP Primers for ALOX5AP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALOX5AP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q12.3   HGNC cytogenetic band: 13q12

ALOX5AP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALOX5AP gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P031309:  view genomic region     (about GC identifiers)

Start:
31,287,615 bp from pter      End:
31,338,565 bp from pter
Size:
50,951 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AL5AP_HUMAN, P20292 (See protein sequence)
Recommended Name: Arachidonate 5-lipoxygenase-activating protein  
Size: 161 amino acids; 18157 Da
Subunit: Homotrimer. Interacts with LTC4S and ALOX5
2 PDB 3D structures from and Proteopedia for ALOX5AP:
2Q7M (3D)        2Q7R (3D)    
Secondary accessions: Q5VV04

Explore the universe of human proteins at neXtProt for ALOX5AP: NX_P20292

Explore proteomics data for ALOX5AP at MOPED


See ALOX5AP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001191335.1  NP_001620.2  

ENSEMBL proteins: 
 ENSP00000369858  
Reactome Protein details: P20292

ALOX5AP Human Recombinant Protein Products:

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Cloud-Clone Corp. CLIAs for ALOX5AP


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR001446 5_LipOase_AP
 IPR018295 FLAP/GST2/LTC4S_CS
 IPR023352 MAPEG-like_dom
 IPR001129 Membr-assoc_MAPEG

Graphical View of Domain Structure for InterPro Entry P20292

ProtoNet protein and cluster: P20292

2 Blocks protein domains:
IPB001129 Membrane-associated proteins in eicosanoid and glutathione metabolism (MAPEG)
IPB001446 Five-lipoxygenase activating protein signature


UniProtKB/Swiss-Prot: AL5AP_HUMAN, P20292
Domain: The C-terminal part after residue 140 is mostly unstructured
Similarity: Belongs to the MAPEG family


ALOX5AP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AL5AP_HUMAN, P20292
Function: Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds
arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886,
a compound that blocks the biosynthesis of leukotrienes

     Genatlas biochemistry entry for ALOX5AP:
arachidonate 5-lipoxygenase activating protein,expressed in cells of myeloid origin,localized in the nuclear
envelop,involved in the biosynthesis of leukotrienes (role in inflammation),microsomal,GST superfamily

     Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004364NOT glutathione transferase activity IBA--
GO:0004464NOT leukotriene-C4 synthase activity IBA--
GO:0004602NOT glutathione peroxidase activity IBA--
GO:0005515protein binding IPI19233132
GO:0008047enzyme activator activity IEA--
     
ALOX5AP for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for ALOX5AP:
 Synthetic lethal with c-Myc af 

     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Alox5ap):
 hematopoietic system  homeostasis/metabolism  immune system  skeleton 

ALOX5AP for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for ALOX5AP: Alox5aptm1Jdm Alox5aptm1Bhk

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALOX5AP
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hsa-miR-570
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Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AL5AP_HUMAN, P20292: Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
nucleus5
cytosol2
lysosome2
plasma membrane2

Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus ----
GO:0005635nuclear envelope TAS--
GO:0005783endoplasmic reticulum IDA19233132
GO:0005789endoplasmic reticulum membrane IEA--
GO:0005829cytosol IEA--

ALOX5AP for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ALOX5AP About   (see all 6)                                                                                              See pathways by source

SuperPathContained pathways About
1Arachidonic acid metabolism
Arachidonic acid metabolism0.40
Synthesis of 5-eicosatetraenoic acids0.00
Synthesis of Leukotrienes (LT) and Eoxins (EX)0.00
Synthesis of Lipoxins (LX)0.00
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
3Selenium Pathway
Selenium Pathway
4Leukotriene modifiers pathway, Pharmacodynamics
Leukotriene modifiers pathway, Pharmacodynamics
5IL-5 Signaling Pathway
IL-5 Signaling Pathway

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


3 BioSystems Pathways for ALOX5AP
    Eicosanoid Synthesis
IL-5 Signaling Pathway
Selenium Pathway


3 Reactome Pathways for ALOX5AP
    Synthesis of Lipoxins (LX)
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Synthesis of 5-eicosatetraenoic acids

1 PharmGKB Pathway for ALOX5AP
    Leukotriene modifiers pathway, Pharmacodynamics


ALOX5AP for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALOX5AP
Interactions:

    GeneGlobe Interaction Network for ALOX5AP

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

Selected Interacting proteins for ALOX5AP (P202923 ENSP000003698584) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
InteractantInteraction Details
GeneCardExternal ID(s)
ALOX5P099173, ENSP000003635124I2D: score=3 STRING: ENSP00000363512
LTC4SQ168733, ENSP000002925964I2D: score=1 STRING: ENSP00000292596
LTA4HENSP000002287404STRING: ENSP00000228740
ABCC1ENSP000003823424STRING: ENSP00000382342
MAPKAPK2ENSP000003560704STRING: ENSP00000356070
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Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002540leukotriene production involved in inflammatory response IEA--
GO:0002675positive regulation of acute inflammatory response IEA--
GO:0006691leukotriene metabolic process TAS--
GO:0019369arachidonic acid metabolic process TAS--
GO:0019370leukotriene biosynthetic process IDA2300173

ALOX5AP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Enzo Life Sciences drugs & compounds for ALOX5AP
  Browse compounds at ApexBio 

Compounds for ALOX5AP available from Tocris Bioscience    About this table
CompoundAction CAS #
BAY-X 1005Orally active 5-lipoxygenase activating protein (FLAP) inhibitor[128253-31-6]
BW-B 70C5-Lipoxygenase inhibitor[134470-38-5]
ZileutonOrally active 5-LOX inhibitor[111406-87-2]
MK 886Inhibitor of 5-lipoxygenase-activating protein (FLAP)[118414-82-7]
Baicalein5- and 12-Lipoxygenase inhibitor[491-67-8]

Selected Novoseek inferred chemical compound relationships for ALOX5AP gene (see all 31)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
5-hpete 87.7 5 8344271 (2), 9630716 (1), 7473582 (1)
mk 886 86.6 17 10333477 (4), 11389700 (2), 16817014 (1), 19346216 (1) (see all 10)
ltc4 86.1 63 8703034 (5), 9278457 (4), 9431445 (3), 8052639 (3) (see all 17)
arachidonic acid 82.5 108 8049076 (4), 8440384 (3), 8344271 (3), 10036194 (2) (see all 47)
leukotriene b4 80.9 28 15593193 (3), 9150468 (2), 9609743 (2), 17156456 (2) (see all 19)
zileuton 78.5 5 9609743 (2), 12649539 (1), 18037915 (1), 9113110 (1)
5-hydroxyeicosatetraenoic acid 78.3 6 8358023 (3), 16185917 (1), 11090070 (1)
montelukast 60.8 4 18591367 (1), 19058495 (1), 18037915 (1), 17460547 (1)
pranlukast 58.7 1 19058495 (1)
zafirlukast 55.3 1 19058495 (1)



ALOX5AP for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ALOX5AP gene (2 alternative transcripts): 
NM_001204406.1  NM_001629.3  

Unigene Cluster for ALOX5AP:

Arachidonate 5-lipoxygenase-activating protein
Hs.507658  [show with all ESTs]
Unigene Representative Sequence: BU198818
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000380490(uc010tdr.2 uc001utf.2) ENST00000479597

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  QuantiFast Probe-based Assays in human, mouse, rat ALOX5AP

Additional mRNA sequence: 

AK314143.1 BC018538.1 

13 DOTS entries:

DT.455424  DT.92432935  DT.120780307  DT.92432937  DT.100036052  DT.92045150  DT.95234653  DT.95339664 
DT.100036055  DT.100036056  DT.100036057  DT.100705468  DT.95271540 

Selected AceView cDNA sequences (see all 167):

AA309930 BQ184220 BQ189456 BX366320 CA310357 CK300333 BU743117 AV713611 
BM773521 BM993917 BM992846 CD369422 CK299583 AA353170 BX350312 AV716937 
CD370101 CD369702 H02419 BU199063 BQ016999 BQ003388 CA307605 BQ187112 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ALOX5AP    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
SP1:              -     -           -                           
SP2:                                -                           
SP3:              -     -           -     -     -               
SP4:                    -                                       


ECgene alternative splicing isoforms for ALOX5AP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ALOX5AP expression in normal human tissues (normalized intensities)      ALOX5AP embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTTAAGCTG
ALOX5AP Expression
About this image


ALOX5AP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 9) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 2 entries
         Granulocytes Peripheral Blood
 
 Thymus (Hematopoietic System)
         Thymus
 
 NULL (Uncategorized)
         CD31, CD144 positive cells
 
 Bone (Muscoskeletal System)
         Bone Marrow
 
 Extraembryonic Mesoderm (Extraembryonic Tissues)
         Extraembryonic Angioblasts Extraembryonic Capillary Plexus
ALOX5AP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ALOX5AP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.507658
    Custom PCR Arrays for ALOX5AP
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QuantiFast Probe-based Assays in human, mouse, rat ALOX5AP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALOX5AP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for ALOX5AP gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Alox5ap1 , 5 arachidonate 5-lipoxygenase activating protein1, 5 85.71(n)1
91.93(a)1
  5 (89.18 cM)5
116901  NM_009663.11  NP_033793.11 
 1492650585 
chicken
(Gallus gallus)
Aves ALOX5AP1 arachidonate 5-lipoxygenase-activating protein 76.19(n)
82.61(a)
  770904  NM_001278144.1  NP_001265073.1 
lizard
(Anolis carolinensis)
Reptilia ALOX5AP6
arachidonate 5-lipoxygenase-activating protein
72(a)
1 ↔ 1
3(184489477-184505246)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.118192 Transcribed sequence with moderate similarity to protein more 73.55(n)    CF343935.1 
zebrafish
(Danio rerio)
Actinopterygii wufj65d022 wufj65d02 73.41(n)   337376  BC053181.1 


ENSEMBL Gene Tree for ALOX5AP (if available)
TreeFam Gene Tree for ALOX5AP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ALOX5AP gene
LTC4S2  MGST22  
2 SIMAP similar genes for ALOX5AP using alignment to 1 protein entry:     AL5AP_HUMAN:
LTC4S    MGST2

ALOX5AP for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ALOX5AP (see all 1372)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 13 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs172454981,2
F--12137965(+) AACTTC/TTCCCC 2 -- int14Minor allele frequency- T:0.02NS 184
rs619473721,2
C,F--12234409(+) GAGCAG/ACCTCA 1 -- us2k13Minor allele frequency- A:0.06NA WA 240
rs1166084191,2
C,F--12234432(+) TTCCAT/GTTTGG 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs1445234721,2
--12234597(+) ATTGTC/TTCATA 1 -- us2k10--------
rs773836721,2
C,F--12234621(+) GAAATC/ATGGAA 1 -- us2k11Minor allele frequency- A:0.50NA 2
rs1423366881,2
--12234723(+) CACTCC/TCATCT 1 -- us2k10--------
rs345363741,2
C,F--12234735(+) TGCCTC/TCATTG 1 -- us2k17Minor allele frequency- T:0.22NA WA CSA EA 366
rs343445661,2
C,F--12234737(+) CCTCCA/GTTGTC 1 -- us2k17Minor allele frequency- G:0.22NA WA CSA EA 366
rs343522401,2
C,F--12234746(+) TCACAC/TGGCAT 1 -- us2k18Minor allele frequency- T:0.22WA NA CSA EA 368
rs1847480281,2
--12234795(+) AACATC/TGGTCA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for ALOX5AP (31287615 - 31338565 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for ALOX5AP:    About this table    
Variant IDTypeSubtypePubMed ID
esv2747225CNV Deletion23290073
nsv984CNV Insertion18451855
nsv832574CNV Gain17160897

Human Gene Mutation Database (HGMD): ALOX5AP
Locus Specific Mutation Databases (LSDB): ALOX5AP

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ALOX5AP
DNA2.0 Custom Variant and Variant Library Synthesis for ALOX5AP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603700   
OMIM disorders: 601367  
UniProtKB/Swiss-Prot: AL5AP_HUMAN, P20292
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural
    tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes,
    resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of
    heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Note=Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction.
    Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP
    haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is
    not implicated in this condition

  • Selected diseases for ALOX5AP (see all 52):    About MalaCards
    cadasil    psoriasis    asthma    atherosclerosis
    familial hypercholesterolemia    proteinuria    primary pulmonary hypertension    acquired immunodeficiency syndrome
    osteoporosis    cerebral palsy    arthritis    angioedema
    cerebrovascular disease    urticaria    coronary artery disease    hypercholesterolemia
    sickle cell disease    abdominal aortic aneurysm    mantle cell lymphoma    allergic rhinitis

    1 disease from the University of Copenhagen DISEASES database for ALOX5AP:
    Cerebrovascular accident

    ALOX5AP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ALOX5AP gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombotic stroke 62.7 1 16939001 (1)
    asthma 57.7 41 20067482 (6), 15784112 (5), 18547289 (4), 12911785 (4) (see all 14)
    stroke 37.8 59 19126581 (4), 15731479 (4), 15640973 (3), 16939001 (3) (see all 20)
    myocardial infarction 37.1 33 14770184 (3), 16778124 (3), 16282974 (2), 17176247 (2) (see all 14)
    inflammation 37 8 19239910 (2), 16261187 (1), 19759251 (1), 18775537 (1) (see all 7)
    cardiovascular diseases 31.5 6 15640973 (2), 16261187 (1), 19239910 (1), 16778124 (1)
    atherosclerosis 27.6 5 20376802 (2), 18258817 (1), 15581413 (1), 16278051 (1)
    asthma allergic 27.6 1 8994519 (1)
    coronary artery disease 16.7 6 19596330 (3), 17505527 (2), 15861005 (1), 18318662 (1)
    nephropathy iga 10.1 1 8468935 (1)

    Genetic Association Database (GAD): ALOX5AP
    Human Genome Epidemiology (HuGE) Navigator: ALOX5AP (69 documents)

    Export disorders for ALOX5AP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALOX5AP gene, integrated from 10 sources (see all 263):
    (articles sorted by number of sources associating them with ALOX5AP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene characterization and promoter analysis of the human 5- lipoxygenase-activating protein (FLAP). (PubMed id 1673682)1, 2, 3, 9 Kennedy B.P.... Dixon R.A.F. (J. Biol. Chem. 1991)
    2. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. (PubMed id 14770184)1, 2, 4, 9 Helgadottir A.... Stefansson K. (Nat. Genet. 2004)
    3. No association of polymorphisms in the gene encoding 5-lipoxygenase- activating protein and myocardial infarction in a large central European population. (PubMed id 17304054)1, 2, 4 Koch W.... Kastrati A. (Genet. Med. 2007)
    4. Genetic variation in the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) is associated with myocardial infarction in the German population. (PubMed id 18318662)1, 4, 9 Linsel-Nitschke P....Erdmann J. (Clin. Sci. 2008)
    5. Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study. (PubMed id 20357438)1, 4, 9 Domingues-Montanari S....Montaner J. (Cerebrovasc. Dis. 2010)
    6. The role of LTA4H and ALOX5AP genes in the risk for asthma in Latinos. (PubMed id 20067482)1, 4, 9 Via M....GonzA!lez Burchard E. (Clin. Exp. Allergy 2010)
    7. Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia. (PubMed id 18775537)1, 4, 9 van der Net J.B....Sijbrands E.J. (Atherosclerosis 2009)
    8. Variants of the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and risk of stroke: a HuGE gene-disease association review and meta-analysis. (PubMed id 19126581)1, 4, 9 Zintzaras E....Sakellaridis N. (Am. J. Epidemiol. 2009)
    9. Polymorphisms in the 5-lipoxygenase activating protein (ALOX5AP) gene are not associated with asthma in an Australian population. (PubMed id 15784112)1, 4, 9 Kedda M.A....Thompson P.J. (Clin. Exp. Allergy 2005)
    10. 5-lipoxygenase and 5-lipoxygenase-activating protein are localized in the nuclear envelope of activated human leukocytes. (PubMed id 8245774)1, 2, 9 Woods J.W.... Singer I.I. (J. Exp. Med. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 241 HGNC: 436 AceView: ALOX5AP Ensembl:ENSG00000132965 euGenes: HUgn241
    ECgene: ALOX5AP H-InvDB: ALOX5AP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALOX5AP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALOX5AP Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/alox5ap/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALOX5AP gene:
    Search GeneIP for patents involving ALOX5AP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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