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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
    mouse all
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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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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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