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GNPAT Gene

protein-coding   GIFtS: 64
GCID: GC01P231376

Glyceronephosphate O-Acyltransferase

  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)
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Aliases
Glyceronephosphate O-Acyltransferase1 2     EC 2.3.1.423 8
DHAPAT2 3 5     acyl-CoA:dihydroxyacetonephosphateacyltransferase2
Glycerone-Phosphate O-Acyltransferase2 3     Dihydroxyacetone Phosphate Acyltransferase2
DAP-AT2 3     Acyl-CoA:dihydroxyacetonephosphateacyltransferase3
DAPAT2 3     EC 2.3.18
DHAP-AT2 3     

External Ids:    HGNC: 44161   Entrez Gene: 84432   Ensembl: ENSG000001169067   OMIM: 6027445   UniProtKB: O152283   

Export aliases for GNPAT gene to outside databases

Previous GC identifers: GC01P229823 GC01P227116 GC01P227850 GC01P228411 GC01P227683 GC01P229443 GC01P201860


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNPAT Gene:
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether
phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GNPAT Gene:
GNPAT (glyceronephosphate O-acyltransferase) is a protein-coding gene. Diseases associated with GNPAT include rhizomelic chondrodysplasia punctata type 2, and peroxisomal disease. GO annotations related to this gene include glycerol-3-phosphate O-acyltransferase activity and receptor binding. An important paralog of this gene is GPAM.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNPAT gene promoter:
         AML1a   LCR-F1   Ik-3   Cdc5   AREB6   MEF-2A   aMEF-2   Pax-4a   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNPAT promoter sequence
   Search Chromatin IP Primers for GNPAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNPAT


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

Entrez Gene cytogenetic band: 1q42   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P231376:  view genomic region     (about GC identifiers)

Start:
231,376,919 bp from pter      End:
231,413,719 bp from pter
Size:
36,801 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GNPAT_HUMAN, O15228 (See protein sequence)
Recommended Name: Dihydroxyacetone phosphate acyltransferase  
Size: 680 amino acids; 77188 Da
Subunit: May be part of a heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT
Secondary accessions: Q5TBH7 Q9BWC2

Explore the universe of human proteins at neXtProt for GNPAT: NX_O15228

Explore proteomics data for GNPAT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys113
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for GNPAT (O15228)
     FLEGTRSR  LFKPFVESYQ  LLPSHRSYIDFLMLSF 


    See GNPAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055051.1  
    ENSEMBL proteins: 
     ENSP00000402811   ENSP00000355607   ENSP00000411640   ENSP00000355606  
    Reactome Protein details: O15228

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR022284 GPAT/DHAPAT
     IPR028353 DHAPAT
     IPR002123 Plipid/glycerol_acylTrfase

    Graphical View of Domain Structure for InterPro Entry O15228

    ProtoNet protein and cluster: O15228

    1 Blocks protein domain: IPB002123 Phospholipid/glycerol acyltransferase

    UniProtKB/Swiss-Prot: GNPAT_HUMAN, O15228
    Domain: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the
    phosphate moiety of the glycerol-3-phosphate (By similarity)
    Similarity: Belongs to the GPAT/DAPAT family


    GNPAT 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNPAT_HUMAN, O15228
    Catalytic activity: Acyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate

         Enzyme Numbers (IUBMB): EC 2.3.1.421 2 EC 2.3.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005102receptor binding IPI--
    GO:0005515protein binding ----
    GO:0008374O-acyltransferase activity ----
    GO:0016287glycerone-phosphate O-acyltransferase activity TAS--
         
    GNPAT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GNPAT:
     Increased S DNA content 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gnpat):
     cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  pigmentation  reproductive system  vision/eye 

    GNPAT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gnpattm1Just for GNPAT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNPAT
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    miRNA
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    hsa-mir-24-3p (MIRT030370), hsa-mir-331-3p (MIRT043262)

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    2 qRT-PCR Assays for microRNAs that regulate GNPAT:
    hsa-miR-1304 hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidGNPAT 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GNPAT_HUMAN, O15228: Peroxisome membrane; Peripheral membrane protein; Matrix side (By similarity).
    Note=Exclusively localized to the lumenal side of the peroxisomal membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome NAS9459311
    GO:0005778peroxisomal membrane TAS--
    GO:0005782peroxisomal matrix TAS--

    GNPAT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GNPAT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    Synthesis of PA0.33
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Plasmalogen biosynthesis0.00
    4triacylglycerol biosynthesis
    Triacylglyceride Synthesis0.36
    5Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GNPAT
        Triacylglyceride Synthesis


    2 Reactome Pathways for GNPAT
        Plasmalogen biosynthesis
    Synthesis of PA


    2 Kegg Pathways  (Kegg details for GNPAT):
        Glycerophospholipid metabolism
    Peroxisome

    UniProtKB/Swiss-Prot: GNPAT_HUMAN, O15228
    Pathway: Membrane lipid metabolism; glycerophospholipid metabolism


    GNPAT for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNPAT
    Interactions:

        Search GeneGlobe Interaction Network for GNPAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for GNPAT (O152283 ENSP000003556074) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    AGPSO001163, ENSP000002641674I2D: score=3 STRING: ENSP00000264167
    RAB35Q152863I2D: score=3 
    PTSQ033933I2D: score=2 
    VDRP114733I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006654phosphatidic acid biosynthetic process TAS--
    GO:0007416synapse assembly IEA--
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----

    GNPAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GNPAT

    Selected HMDB Compounds for GNPAT (see all 35)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    9 Novoseek inferred chemical compound relationships for GNPAT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dhap 96.8 56 9053559 (2), 16423830 (2), 9370313 (2), 11237722 (2) (see all 39)
    lignoceric acid 90 5 7889146 (1), 1511996 (1), 1639130 (1), 9259985 (1) (see all 5)
    phytanic acid 89.9 7 1618493 (1), 12473763 (1), 8341225 (1), 10972423 (1) (see all 6)
    3-oxoacyl-coa 78.9 2 1618493 (1)
    plasmenylethanolamine 77.7 1 15687349 (1)
    pristanic acid 73.8 3 12473763 (2), 14571262 (1)
    acyl-coa 56.7 3 1679469 (2), 15386443 (1)
    fatty acid 33.3 6 18712838 (1), 1569372 (1), 10972423 (1)
    lipid 6.4 1 11405062 (1)



    GNPAT for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GNPAT gene: 
    NM_014236.3  

    Unigene Cluster for GNPAT:

    Glyceronephosphate O-acyltransferase
    Hs.498028  [show with all ESTs]
    Unigene Representative Sequence: NM_014236
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000436239 ENST00000366647(uc009xfo.1 uc001hup.4 uc009xfp.3)
    ENST00000416000 ENST00000492459 ENST00000469332 ENST00000366646
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    hsa-miR-1304 hsa-miR-1236
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      QuantiFast Probe-based Assays in human, mouse, rat GNPAT

    Additional mRNA sequence: 

    AB209882.1 AF035285.1 AF043937.1 AJ002190.1 AK222773.1 AK223304.1 AK297982.1 AK309994.1 
    AK311386.1 AK314181.1 BC000450.2 

    15 DOTS entries:

    DT.216987  DT.202915  DT.95253998  DT.100687861  DT.40132407  DT.75139831  DT.100767965  DT.121345210 
    DT.91767098  DT.100650562  DT.100650563  DT.121345218  DT.91788339  DT.91840087  DT.95254000 

    Selected AceView cDNA sequences (see all 433):

    CN479863 BU626176 BI254071 AI077818 AW604189 AI222158 CA424094 AI814204 
    BE208236 AI400424 BM704975 AF035285 BI830798 BQ686091 AU154258 BM850389 
    BE408839 BX095682 AA767608 AA431874 BU734566 BM710293 AA404514 BM849582 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GNPAT (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^
    SP1:                                      -     -                                                                             -           -     -               
    SP2:                    -     -     -     -     -                                                                                                               
    SP3:                                      -     -                                               -                                                               
    SP4:                                      -     -                 -                                                                                             
    SP5:                                      -     -                                                                                                               

    ExUns: 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b
    SP1:              -     -                                 
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for GNPAT

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNPAT expression in normal human tissues (normalized intensities)      GNPAT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGAAAAA
    GNPAT Expression
    About this image


    GNPAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
    GNPAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNPAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498028
        Custom PCR Arrays for GNPAT
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNPAT

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GNPAT gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnpat1 , 5 glyceronephosphate O-acyltransferase1, 5 81.48(n)1
    81.68(a)1
      8 (72.81 cM)5
    147121  NM_010322.31  NP_034452.31 
     1248630335 
    chicken
    (Gallus gallus)
    Aves GNPAT1 glyceronephosphate O-acyltransferase 69.96(n)
    67.12(a)
      421548  XM_419589.4  XP_419589.4 
    lizard
    (Anolis carolinensis)
    Reptilia GNPAT6
    glyceronephosphate O-acyltransferase
    63(a)
    1 ↔ 1
    1(223144377-223168293)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.40342 Xenopus laevis transcribed sequence with weak similarity more 73.25(n)    48031697 
    zebrafish
    (Danio rerio)
    Actinopterygii gnpat1 glyceronephosphate O-acyltransferase 60.21(n)
    56.92(a)
      572335  XM_002665648.3  XP_002665694.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhap-at1 Dihydroxyacetone phosphate acyltransferase 42.95(n)
    32.69(a)
      53586  NM_001276028.1  NP_001262957.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.213
    acl-71
    dihydroxyacetone phosphate
    acyltransferase3
    acl-71
    45(a)3
    46.36(n)1
    33.04(a)1
      II(12811814-12816352)3
    1749161  NM_064324.61  NP_496725.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNPAT gene
    GPAM2  GPAT22  
    1 SIMAP similar gene for GNPAT using alignment to 4 protein entries:     GNPAT_HUMAN (see all proteins):
    GPAM

    GNPAT for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GNPAT
    PGOHUM00000259077 PGOHUM00000259078


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNPAT (see all 774)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115584921,2,,4
    C,F,HRhizomelic chondrodysplasia punctata 2 (RCDP2)4 --238192607(-) AAACAC/TCACGT 2 D G mis132Minor allele frequency- N:0.00EA NA NS WA EU 9270
    rs289396971,2,4
    Rhizomelic chondrodysplasia punctata 2 (RCDP2)4--see VAR_0063572 mis40--------
    rs289396961,2,4
    Rhizomelic chondrodysplasia punctata 2 (RCDP2)4--see VAR_0063582 mis40--------
    rs1406438891,2
    C--231385827(+) CCTCT-/TTATTATT 1 -- int10--------
    rs677787171,2
    C--231385829(+) TTATT-/ATTTTATT 2 -- int1 cds11Minor allele frequency- ATT:0.00NA 2
    rs1997327031,2
    --231385847(+) TTATT-/ATTATT 1 -- int10--------
    rs106932761,2
    C--231392226(+) tttttTTT/-ttttt 1 -- cds1 trp31Minor allele frequency- -:0.00NA 2
    rs558482931,2
    C--231394903(+) TTTTTT/-GGCAC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs114462781,2
    C--231395393(+) AAAAAA/-GGTTA 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs32157591,2
    C--231396116(-) TGACA-/AT/TA 
            
    ACTTC
    1 -- int10--------

    HapMap Linkage Disequilibrium report for GNPAT (231376919 - 231413719 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GNPAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873292CNV Gain21882294

    Human Gene Mutation Database (HGMD): GNPAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNPAT
    DNA2.0 Custom Variant and Variant Library Synthesis for GNPAT

    (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.)
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    OMIM gene information: 602744   
    OMIM disorders: 222765  
    UniProtKB/Swiss-Prot: GNPAT_HUMAN, O15228
  • Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]: 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

  • Selected diseases for GNPAT (see all 26):    About MalaCards
    rhizomelic chondrodysplasia punctata type 2    peroxisomal disease    rhizomelic chondrodysplasia punctata    chondrodysplasia
    quadriplegia    peroxisome disorders    infantile refsum disease    spastic quadriplegia
    hepatorenal syndrome    refsum disease    zellweger syndrome    adrenoleukodystrophy
    spasticity    skin disease    epididymitis    cataract
    mental retardation    hepatitis b    hypoxia    schizophrenia

    5 diseases from the University of Copenhagen DISEASES database for GNPAT:
    Zellweger syndrome     Rhizomelic chondrodysplasia punctata     Infantile refsum disease     Refsum disease
    Adrenoleukodystrophy

    GNPAT for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for GNPAT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydroxyacetonephosphate acyltransferase deficiency 97.6 3 11237722 (1), 10972423 (1)
    chondrodysplasia punctata rhizomelic 94.7 4 8466247 (2), 7530787 (1), 7914249 (1)
    peroxisomal disorders 92.1 4 9053559 (1), 9370313 (1), 9843043 (1), 8341225 (1)
    zellweger syndrome 91.5 3 1679469 (2), 8186247 (1)
    chondrodysplasia punctata 88.8 6 8832947 (2), 9165515 (1), 7914249 (1)
    cdpx2 87.1 11 8832947 (2), 7914249 (1)
    enzyme deficiency 58.3 1 9843043 (1)
    developmental delay 39.5 1 9843043 (1)
    hyperplasia 0 1 1569372 (1)

    Genetic Association Database (GAD): GNPAT
    Human Genome Epidemiology (HuGE) Navigator: GNPAT (1 document)

    Export disorders for GNPAT 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)
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    PubMed articles for GNPAT gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with GNPAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (PubMed id 9536089)1, 2, 3, 9 Ofman R....Wanders R.J.A. (Hum. Mol. Genet. 1998)
    2. Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase. (PubMed id 9459311)1, 2, 3 Thai T.-P....Just W.W. (FEBS Lett. 1997)
    3. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human GNPAT gene and its use in the identification of novel mutations. (PubMed id 11237722)1, 2, 9 Ofman R.... Wanders R.J.A. (Biochem. Biophys. Res. Commun. 2001)
    4. A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention. (PubMed id 16997000)1, 4, 9 Liu Y.L....Hwu H.G. (Biol. Psychiatry 2006)
    5. 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. (Hum. Mutat. 2012)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Impaired membrane traffic in defective ether lipid biosynthesis. (PubMed id 11152660)1, 2 Thai T.P....Just W.W. (Hum. Mol. Genet. 2001)
    9. Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids. (PubMed id 15687349)1, 9 Liu D....Zoeller R.A. (J. Lipid Res. 2005)
    10. Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta. (PubMed id 8186247)1, 9 Ofman R. and Wanders R.J. (Biochim. Biophys. Acta 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8443 HGNC: 4416 AceView: GNPAT Ensembl:ENSG00000116906 euGenes: HUgn8443
    ECgene: GNPAT Kegg: 8443 H-InvDB: GNPAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GNPAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GNPAT[genesymbol]

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

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



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