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AGPS alkylglycerone phosphate synthase [ Homo sapiens (human) ]

Gene ID: 8540, updated on 3-Nov-2024

Summary

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Official Symbol
AGPSprovided by HGNC
Official Full Name
alkylglycerone phosphate synthaseprovided by HGNC
Primary source
HGNC:HGNC:327
See related
Ensembl:ENSG00000018510 MIM:603051; AllianceGenome:HGNC:327
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
ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY
Summary
This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in colon (RPKM 7.8), endometrium (RPKM 6.7) and 25 other tissues See more
Orthologs
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Genomic context

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See AGPS in Genome Data Viewer
Location:
2q31.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177392773..177543834)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (177875047..178026109)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178257501..178408562)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Putative uncharacterized protein FLJ44553 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12146 Neighboring gene H3 histone pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12147 Neighboring gene Sharpr-MPRA regulatory region 2066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178261250-178261750 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:178275762-178275927 Neighboring gene MPRA-validated peak3947 silencer Neighboring gene uncharacterized LOC105373762 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178338764-178339963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178416524-178417328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178417329-178418132 Neighboring gene intraflagellar transport 70B Neighboring gene uncharacterized LOC124906098

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. de Vet EC, et al. Biochim Biophys Acta, 1997 May 17. PMID 9187299
  2. Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. Biermann J, et al. IUBMB Life, 1999 Dec. PMID 10683770
  3. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. de Vet EC, et al. J Lipid Res, 1999 Nov. PMID 10553003
  4. The effect of benzyl isothiocyanate and its computer-aided design derivants targeting alkylglycerone phosphate synthase on the inhibition of human glioma U87MG cell line. Zhu Y, et al. Tumour Biol, 2015 May. PMID 25542233
  5. Alkyl-dihydroxyacetonephosphate synthase. de Vet EC, et al. Cell Biochem Biophys, 2000. PMID 11330037

See all (104) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TrkA promotes MDM2-mediated AGPS ubiquitination and degradation to trigger prostate cancer progression.
    Title: TrkA promotes MDM2-mediated AGPS ubiquitination and degradation to trigger prostate cancer progression.
  2. Mass Spectrometry and Computer Simulation Predict the Interactions of AGPS and HNRNPK in Glioma.
    Title: Mass Spectrometry and Computer Simulation Predict the Interactions of AGPS and HNRNPK in Glioma.
  3. we optimized the BITC construction targeting alkylglycerone phosphate synthase (AGPS) by computer-aided design, and the derivants also showed anti-tumor potential in vitro.
    Title: The effect of benzyl isothiocyanate and its computer-aided design derivants targeting alkylglycerone phosphate synthase on the inhibition of human glioma U87MG cell line.
  4. AGPS overexpression could be a causation of chemotherapy agent resistance of cancer cells. AGPS silencing could lead to drug uptake and cell cycle arrest and apoptotic cell death.
    Title: Alkylglyceronephosphate synthase (AGPS) alters lipid signaling pathways and supports chemotherapy resistance of glioma and hepatic carcinoma cell lines.
  5. Results demonstrated that AGPS negatively regulated the invasion potential of glioma and hepatic carcinoma cells by modulating the expression of relevant genes and activity of the MAPK pathway.
    Title: Role and mechanism of the alkylglycerone phosphate synthase in suppressing the invasion potential of human glioma and hepatic carcinoma cells in vitro.
  6. AGPS, in addition to maintaining ether lipids, also controls cellular utilization of fatty acids, favoring the generation of signaling lipids necessary for promoting the aggressive features of cancer.
    Title: Ether lipid generating enzyme AGPS alters the balance of structural and signaling lipids to fuel cancer pathogenicity.
  7. Novel mutations in AGPS (alkylglycerone-phosphate synthase) cause rhizomelic chondrodysplasia punctata (RCDP) type 3.
    Title: Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. Defect of ADAPS expression was also assessed by immunoblot
    Title: Isolation and characterization of mutant animal cell line defective in alkyl-dihydroxyacetonephosphate synthase: localization and transport of plasmalogens to post-Golgi compartments.
Submit: New GeneRIF Correction

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
Rhizomelic chondrodysplasia punctata type 3
MedGen: C1838612 OMIM: 600121 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with alkylglycerone phosphate synthase (AGPS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
capsid gag The interaction of HIV-1 CA with human cellular alkylglycerone phosphate synthase protein (AGPS) is identified by yeast two-hybrid screen PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ99755, DKFZp762O2215

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables alkylglycerone-phosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alkylglycerone-phosphate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ether lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ether lipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within lipid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in mitochondrion HDA PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
located_in peroxisomal membrane HDA PubMed 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
alkyldihydroxyacetonephosphate synthase, peroxisomal
Names
aging-associated gene 5 protein
aging-associated protein 5
alkyl-DHAP synthase
NP_003650.1
XP_011510343.1
XP_047302060.1
XP_047302061.1
XP_054200240.1
XP_054200241.1

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

  1. NG_008968.1 RefSeqGene

    Range
    5031..156092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003659.4 → NP_003650.1  alkyldihydroxyacetonephosphate synthase, peroxisomal precursor

    See identical proteins and their annotated locations for NP_003650.1

    Status: REVIEWED

    Source sequence(s)
    AA832354, AC073834, AK314259
    Consensus CDS
    CCDS2275.1
    UniProtKB/Swiss-Prot
    A5D8U9, O00116, Q2TU35
    UniProtKB/TrEMBL
    A0A7P0T984
    Related
    ENSP00000264167.4, ENST00000264167.11
    Conserved Domains (3) summary
    COG0277
    Location:200 → 652
    GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    pfam01565
    Location:206 → 347
    FAD_binding_4; FAD binding domain
    pfam02913
    Location:385 → 657
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    177392773..177543834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446105.1 → XP_047302061.1  alkyldihydroxyacetonephosphate synthase, peroxisomal isoform X2

    Related
    ENSP00000505620.1, ENST00000681565.1

  2. XM_011512041.3 → XP_011510343.1  alkyldihydroxyacetonephosphate synthase, peroxisomal isoform X1

    See identical proteins and their annotated locations for XP_011510343.1

    UniProtKB/TrEMBL
    A0A7P0T984, B7Z3Q4
    Related
    ENSP00000505342.1, ENST00000681449.1
    Conserved Domains (1) summary
    COG0277
    Location:110 → 562
    GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

  3. XM_047446104.1 → XP_047302060.1  alkyldihydroxyacetonephosphate synthase, peroxisomal isoform X1

    UniProtKB/TrEMBL
    B7Z3Q4
    Related
    ENSP00000506484.1, ENST00000679478.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    177875047..178026109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344266.1 → XP_054200241.1  alkyldihydroxyacetonephosphate synthase, peroxisomal isoform X2

  2. XM_054344265.1 → XP_054200240.1  alkyldihydroxyacetonephosphate synthase, peroxisomal isoform X1

    UniProtKB/TrEMBL
    B7Z3Q4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00116.1 GenPept UniProtKB/Swiss-Prot:O00116

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