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

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; 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
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Genomic context

Location:: 13q12.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (30713485..30764426)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (29935580..29986538)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (31287622..31338563)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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].
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.
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.
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.
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.
Indicate a potential protective role of ALOX5AP and 5-arachidonate lipoxygenase gene in diabetes type 2 pathogenesis.
Title: Assessment of association between lipoxygenase genes variants in elderly Greek population and type 2 diabetes mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (107)

Phenotypes

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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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121762 (e-PCR)
- UniSTS:134912

SHGC-142275 (e-PCR)
- UniSTS:171360

SHGC-149049 (e-PCR)
- UniSTS:176766

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate 5-lipoxygenase activity	IEA Inferred from Electronic Annotation more info
enables arachidonic acid 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 more info	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

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Preferred Names: arachidonate 5-lipoxygenase-activating protein

Names: MK-886-binding protein

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.

Genomic

NG_011963.2 RefSeqGene

Range

27066..55949

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

30713485..30764426

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam01124
Location:18 → 88

MAPEG; MAPEG family