• Gene id: 241

Gene Summary

• Gene Symbol: ALOX5AP   Gene   UCSC   Ensembl
• Aliases: FLAP
• Gene name: arachidonate 5-lipoxygenase activating protein
• Alternate names: arachidonate 5-lipoxygenase-activating protein, MK-886-binding protein,
• Gene location: 13q12.3 (30713477: 30764427)     Exons: 7     NC_000013.11
• Gene summary(Entrez): 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.
• OMIM: 603700

SNPs

rs2020880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs3740753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

Protein Summary

• Protein general information: P20292  
  • Name: Arachidonate 5 lipoxygenase activating protein (FLAP) (MK 886 binding protein)
  • Length: 161  
  • Mass: 18157
• Sequence:

  MDQETVGNVVLLAIVTLISVVQNGFFAHKVEHESRTQNGRSFQRTGTLAFERVYTANQNCVDAYPTFLAVLWSAG
  LLCSQVPAAFAGLMYLFVRQKYFVGYLGERTQSTPGYIFGKRIILFLFLMSVAGIFNYYLIFFFGSDFENYIKTI
  STTISPLLLIP

• Structural information:
  • Interpro: IPR001446  IPR018295  IPR023352  IPR001129  
  • Prosite: PS01297
  • PDB: 2Q7M 2Q7R
  • PDBsum: 2Q7M 2Q7R
  • STRING: ENSP00000479870
• Other Databases: GeneCards:  ALOX5AP  Malacards:  ALOX5AP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019370	leukotriene biosynthetic process	IBA	biological process
GO:0005635	nuclear envelope	IBA	cellular component
GO:0004602	glutathione peroxidase activity	IBA	molecular function
GO:0004364	glutathione transferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004464	leukotriene-C4 synthase activity	IBA	molecular function
GO:0070207	protein homotrimerization	IPI	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006691	leukotriene metabolic process	IEA	biological process
GO:0008047	enzyme activator activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019370	leukotriene biosynthetic process	IEA	biological process
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006691	leukotriene metabolic process	TAS	biological process
GO:0019372	lipoxygenase pathway	TAS	biological process
GO:2001301	lipoxin biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0050544	arachidonic acid binding	IDA	molecular function
GO:0019370	leukotriene biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04664	Fc epsilon RI signaling pathway

Diseases

Associated diseases	References
Breast cancer	PMID:18843019
Cerebral palsy	PMID:18977990
Arteriosclerosis	PMID:18258817
Asthma	PMID:9642160
Asthma	PMID:18547289
Coronary artery disease	PMID:19596330
Brain infarction	PMID:18506375
Kidney disease	PMID:19288030
Myocardial infarction	PMID:14770184
Pulmonary hypertension	PMID:9445303
neuroblastoma	PMID:18591367
obesity	PMID:19596146
Male infertility, Embryo quality	MIK: 26361204
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R