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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGPS Gene

protein-coding   GIFtS: 62
GCID: GC02P178221

Alkylglycerone Phosphate Synthase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alkylglycerone Phosphate Synthase1 2     ADAP-S2
Aging-Associated Gene 5 Protein2 3     ADAS2
Alkyl-DHAP Synthase2 3     ADPS2
Alkylglycerone-Phosphate Synthase2 3     ALDHPSY2
EC 2.5.1.263 8     Aging-Associated Protein 52
ADHAPS2 5     Alkyldihydroxyacetonephosphate Synthase, Peroxisomal2

External Ids:    HGNC: 3271   Entrez Gene: 85402   Ensembl: ENSG000000185107   OMIM: 6030515   UniProtKB: O001163   

Export aliases for AGPS gene to outside databases

Previous GC identifers: GC02P176320 GC02P176928 GC02P178460 GC02P178083 GC02P177965 GC02P170128


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AGPS Gene:
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)

GeneCards Summary for AGPS Gene: 
AGPS (alkylglycerone phosphate synthase) is a protein-coding gene. Diseases associated with AGPS include rhizomelic chondrodysplasia punctata, type 3, and photoallergic dermatitis, and among its related super-pathways are Metabolic pathways and Acyl chain remodelling of PC. GO annotations related to this gene include alkylglycerone-phosphate synthase activity and FAD binding. An important paralog of this gene is LDHD.

UniProtKB/Swiss-Prot: ADAS_HUMAN, O00116
Function: Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in
the biosynthesis of ether phospholipids (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGPS gene promoter:
         MIF-1   Evi-1   C/EBPalpha   GATA-2   AREB6   Egr-2   PPAR-gamma1   PPAR-gamma2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGPS promoter sequence
   Search SABiosciences Chromatin IP Primers for AGPS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGPS


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

Entrez Gene cytogenetic band: 2q31.2   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P178221:  view genomic region     (about GC identifiers)

Start:
178,257,372 bp from pter      End:
178,408,564 bp from pter
Size:
151,193 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ADAS_HUMAN, O00116 (See protein sequence)
Recommended Name: Alkyldihydroxyacetonephosphate synthase, peroxisomal precursor  
Size: 658 amino acids; 72912 Da
Cofactor: FAD
Subunit: Homodimer (By similarity)
Subcellular location: Peroxisome membrane. Note=Localized to the inner aspect of the peroxisomal membrane
Secondary accessions: A5D8U9 Q2TU35

Explore the universe of human proteins at neXtProt for AGPS: NX_O00116

Explore proteomics data for AGPS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00116

  • 4/7 DME Specific Peptides for AGPS (O00116) (see all 7)
     AFPNFEQGV  YGNIEDLVV  TRASGMKKN  IIPIGGGTSV 

    AGPS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGPS Protein Expression
    REFSEQ proteins: NP_003650.1  
    ENSEMBL proteins: 
     ENSP00000264167   ENSP00000386688  
    Reactome Protein details: O00116
    Human Recombinant Protein Products for AGPS: 
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    Cloud-Clone Corp. Proteins for AGPS 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA10415121
    GO:0005778peroxisomal membrane IDA--
    GO:0005782peroxisomal matrix TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    AGPS for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR025650 Alkyl-DHAP_Synthase
     IPR016167 FAD-bd_2_sub1
     IPR016166 FAD-bd_2
     IPR004113 FAD-linked_oxidase_C
     IPR016169 CO_DH_flavot_FAD-bd_sub2

    Graphical View of Domain Structure for InterPro Entry O00116

    ProtoNet protein and cluster: O00116

    1 Blocks protein domain: IPB004113 FAD linked oxidase

    UniProtKB/Swiss-Prot: ADAS_HUMAN, O00116
    Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 family
    Similarity: Contains 1 FAD-binding PCMH-type domain


    AGPS 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADAS_HUMAN, O00116
    Function: Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in
    the biosynthesis of ether phospholipids (By similarity)
    Catalytic activity: 1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a
    long-chain acid anion

         Enzyme Number (IUBMB): EC 2.5.1.261 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008609alkylglycerone-phosphate synthase activity IDA10415121
    GO:0008762UDP-N-acetylmuramate dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016614oxidoreductase activity, acting on CH-OH group of donors ----
         
    AGPS for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AGPS:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Agps):
     endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  reproductive system  vision/eye 

    AGPS for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGPS 
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    hsa-miR-361-5p hsa-miR-520f hsa-miR-1260b hsa-miR-3653 hsa-miR-519a hsa-miR-3916 hsa-miR-510 hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidAGPS 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGPS About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Acyl chain remodelling of PE
    Ether lipid metabolism0.46
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism0.38
    4CDP-diacylglycerol biosynthesis I
    Triacylglyceride Synthesis0.36
    5Plasmalogen biosynthesis
    Plasmalogen biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AGPS
        Triacylglyceride Synthesis

    4        Reactome Pathways for AGPS
        Plasmalogen biosynthesis
    Metabolism
    Peroxisomal lipid metabolism
    Metabolism of lipids and lipoproteins


    3         Kegg Pathways  (Kegg details for AGPS):
        Ether lipid metabolism
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: ADAS_HUMAN, O00116
    Pathway: Glycerolipid metabolism; ether lipid biosynthesis


    AGPS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/11 Interacting proteins for AGPS (O001163 ENSP000002641674) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG16L1Q676U53, ENSP000003758724I2D: score=3 STRING: ENSP00000375872
    GNPATO152283, ENSP000003556074I2D: score=3 STRING: ENSP00000355607
    C12orf44Q9BSB43I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    GBASO753233I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008610lipid biosynthetic process IDA9553082
    GO:0008611ether lipid biosynthetic process TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    AGPS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGPS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AGPS (ADAS)

    10 HMDB Compounds for AGPS    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Hexadecanol1-Cetanol (see all 82)36653-82-4--
    1-Undecanol1-Hendecanol (see all 25)112-42-5--
    Arachidyl alcoholn-1-Eicosanol (see all 12)629-96-9--
    DHAP(18:0)1-Octadecanoyl-glycerone-3-phosphate (see all 3)----
    DHAP(18:0e)1-Octadecyl-glycerone-3-phosphate (see all 3)----
    Decyl alcoholRoyaltac-85 (see all 30)112-30-1--
    DodecanolLorol (see all 41)112-53-8--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Octadecanol1-0ctadecanol (see all 16)112-92-5--
    Tetradecanol1-Tetradecanol (see all 22)112-72-1--

    9 Novoseek inferred chemical compound relationships for AGPS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arabinogalactan 94 26 15346810 (2), 12177459 (2), 15675787 (1), 10588691 (1) (see all 19)
    dhap 66 3 11237722 (1), 9645070 (1), 9714777 (1)
    hydroxyproline 27.3 2 1874742 (1), 12177459 (1)
    polysaccharide 15.3 2 8727785 (1), 20129101 (1)
    threonine 8.27 2 1874742 (1), 12177459 (1)
    serine 5.21 2 1874742 (1), 12177459 (1)
    fatty acid 0 1 10972423 (1)
    alanine 0 2 1874742 (1), 12177459 (1)
    h2o2 0 2 9418056 (2)

    Search CenterWatch for drugs/clinical trials and news about AGPS / ADAS

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AGPS gene: 
    NM_003659.3  

    Unigene Cluster for AGPS:

    Alkylglycerone phosphate synthase
    Hs.516543  [show with all ESTs]
    Unigene Representative Sequence: NM_003659
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264167(uc002ull.2 uc010zfb.1) ENST00000409888 ENST00000460342

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/134 QIAGEN miScript miRNA Assays for microRNAs that regulate AGPS (see all 134):
    hsa-miR-361-5p hsa-miR-520f hsa-miR-1260b hsa-miR-3653 hsa-miR-519a hsa-miR-3916 hsa-miR-510 hsa-miR-520b
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    Additional mRNA sequence: 

    AK296239.1 AK309714.1 AK314259.1 AK316240.1 AL359559.1 AY544121.1 BC141820.1 CR749699.1 
    Y09443.1 

    8 DOTS entries:

    DT.91950433  DT.95227781  DT.92421097  DT.99991754  DT.40217546  DT.426818  DT.86854796  DT.95159042 

    24/224 AceView cDNA sequences (see all 224):

    AA599191 BU195393 CA424170 AW592481 Y09443 CB240746 AA361733 CR591757 
    AW085059 AI445035 AA578731 N20035 AA286769 CB070034 BM802768 AL558543 
    AA425188 AI422186 AI341908 BE549647 AA669047 CR606155 AW052134 AA256583 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AGPS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
    SP1:                                            -                                                                                                   
    SP2:                    -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                           
    SP3:                                                                                                                                                


    ECgene alternative splicing isoforms for AGPS

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGPS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGATTTTT
    AGPS Expression
    About this image


    See AGPS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGPS

    SOURCE GeneReport for Unigene cluster: Hs.516543
        SABiosciences Custom PCR Arrays for AGPS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGPS

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGPS gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agps1 , 5 alkylglycerone phosphate synthase1, 5 89.91(n)1
    91.61(a)1
      2 (44.77 cM)5
    2280611  NM_172666.31  NP_766254.21 
     758321775 
    chicken
    (Gallus gallus)
    Aves AGPS1 alkylglycerone phosphate synthase 80.12(n)
    82.28(a)
      424135  XM_421987.3  XP_421987.3 
    lizard
    (Anolis carolinensis)
    Reptilia AGPS6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343411.1(365282-434575)
    zebrafish
    (Danio rerio)
    Actinopterygii wufd16e062 wufd16e06 71.59(n)   386801  BC045516.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102531 , 3 ether lipid biosynthesis
    alkylglycerone-phosphate more3
    CG102531
    52(a)3
    55.19(n)1
    52.98(a)1
      51D33
    366691  NM_137162.21  NP_611006.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ads-11 , 3 Protein ADS-11 53(a)3
    56.74(n)1
    53.59(a)1
      III(295713-298530)3
    1751921  NM_064784.61  NP_497185.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DLD16
    D-lactate dehydrogenase, oxidizes D-lactate to pyr...
    17(a)
    1 → many
    IV(145826-147589)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGPS gene
    LDHD2  

    AGPS 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2681 SNPs in AGPS are shown (see all 2681)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669294
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0669292 R Q mis40--------
    VAR_0258954
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0258952 T I mis40--------
    VAR_0669314
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0669312 T M mis40--------
    VAR_0258964
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0258962 L P mis40--------
    VAR_0669304
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0669302 E K mis40--------
    VAR_0050024
    Rhizomelic chondrodysplasia punctata 3 (RCDP3)4--see VAR_0050022 R H mis40--------
    rs775980141,2
    C--170141328(+) GGAACT/-TTTAA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs113053521,2
    C--170144870(+) TTGAC-/TTTTTT 1 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs777166031,2
    C,F--177644438(+) TGTCAA/GTCAGG 1 -- us2k12Minor allele frequency- G:0.08WA NA 238
    rs1839890101,2
    --177644548(+) ATTCTC/GTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AGPS (178257372 - 178408564 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for AGPS (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2084314CNV Deletion18987734
    esv2721181CNV Deletion23290073
    esv2665427CNV Deletion23128226
    esv2660495CNV Deletion23128226
    esv2433824CNV Deletion19546169
    esv1528872CNV Insertion17803354
    esv1690590CNV Insertion17803354
    esv267553CNV Insertion20981092
    nsv507053CNV Insertion20534489
    esv272459CNV Insertion20981092


    Human Gene Mutation Database (HGMD): AGPS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AGPS
    DNA2.0 Custom Variant and Variant Library Synthesis for AGPS

    (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.)
    About This Section
    OMIM gene information: 603051   
    OMIM disorders: 600121  
    UniProtKB/Swiss-Prot: ADAS_HUMAN, O00116
  • Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: A disease characterized by rhizomelic
    shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/29 diseases for AGPS (see all 29):    About MalaCards
    rhizomelic chondrodysplasia punctata, type 3    photoallergic dermatitis    rhizomelic chondrodysplasia punctata    pneumonic plague
    rhizomelic chondrodysplasia punctata type 2    fungal meningitis    plague    peroxisome disorders
    chondrodysplasia    zellweger syndrome    down syndrome critical region    peroxisome biogenesis disorders
    alcoholism    meningitis    protein s deficiency    down syndrome
    cataract    dermatitis    mental retardation    hepatitis c

    3 diseases from the University of Copenhagen DISEASES database for AGPS:
    Rhizomelic chondrodysplasia punctata     Acquired immunodeficiency syndrome     Photoallergic dermatitis

    AGPS for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for AGPS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondrodysplasia punctata rhizomelic 86.1 1 10683770 (1)
    peroxisomal disorders 68.4 2 10683770 (1), 10384985 (1)
    zellweger syndrome 68.3 1 10683770 (1)

    Genetic Association Database (GAD): AGPS
    Human Genome Epidemiology (HuGE) Navigator: AGPS (2 documents)

    Export disorders for AGPS 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)
    About This Section

    PubMed articles for AGPS gene, integrated from 9 sources (see all 92):
    (articles sorted by number of sources associating them with AGPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. (PubMed id 9553082)1, 2, 3 de Vet E.C.J.M....van den Bosch H. (1998)
    2. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. (PubMed id 9187299)1, 2, 3 de Vet E.C.J.M.... van den Bosch H. (1997)
    3. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (PubMed id 21990100)1, 2 Itzkovitz B.... Braverman N. (2011)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Impaired membrane traffic in defective ether lipid biosynthesis. (PubMed id 11152660)1, 2 Thai T.P....Just W.W. (2001)
    7. Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. (PubMed id 10683770)1, 9 Biermann J....van den Bosch H. (1999)
    8. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. (PubMed id 10384985)1, 9 Biermann J....van den Bosch H. (1999)
    9. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. (PubMed id 9266692)1, 9 de Vet E.C....van den Bosch H. (1997)
    10. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8540 HGNC: 327 AceView: AGPS Ensembl:ENSG00000018510 euGenes: HUgn8540
    ECgene: AGPS Kegg: 8540 H-InvDB: AGPS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGPS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGPS

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

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



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    About This Section

     
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