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ISYNA1 Gene

protein-coding   GIFtS: 60
GCID: GC19M018545

Inositol-3-Phosphate Synthase 1

  See ISYNA1-related disease
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
Inositol-3-Phosphate Synthase 11 2     EC 5.5.1.43 8
Myo-Inositol 1-Phosphate Synthase1 3     IPS2 5
Myo-Inositol 1-Phosphate Synthase A12 3     INOS2
INO12 3     IPS-12
IPS 12 3     hINO13
MI-1-P Synthase2 3     hIPS3
MIP Synthase2 3     

External Ids:    HGNC: 298211   Entrez Gene: 514772   Ensembl: ENSG000001056557   OMIM: 6116705   UniProtKB: Q9NPH23   

Export aliases for ISYNA1 gene to outside databases

Previous GC identifers: GC19M019039 GC19M018937 GC19M018390 GC19M018406 GC19M018108


(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 ISYNA1 Gene:
This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the
myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to
myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed
for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. (provided by RefSeq,
Nov 2011)

GeneCards Summary for ISYNA1 Gene:
ISYNA1 (inositol-3-phosphate synthase 1) is a protein-coding gene. Diseases associated with ISYNA1 include fungal meningitis. GO annotations related to this gene include inositol-3-phosphate synthase activity.

UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2
Function: Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to
1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all
inositol-containing compounds




(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 at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ISYNA1 gene promoter:
         AP-2gamma   FOXO1a   AP-2beta   c-Myb   Zic3   NF-kappaB1   AP-2alpha   FOXO1   AP-2alphaA   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISYNA1 promoter sequence
   Search Chromatin IP Primers for ISYNA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISYNA1


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

ISYNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISYNA1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018545:  view genomic region     (about GC identifiers)

Start:
18,545,198 bp from pter      End:
18,549,111 bp from pter
Size:
3,914 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 (See protein sequence)
Recommended Name: Inositol-3-phosphate synthase 1  
Size: 558 amino acids; 61068 Da
Cofactor: NAD
Sequence caution: Sequence=AAP97151.1; Type=Frameshift; Positions=82, 85, 496;
Secondary accessions: B3KRT1 G5E9U0 Q6NXT5 Q7Z525 Q9BT65 Q9H2Y2 Q9NSU0 Q9NVW7
Alternative splicing: 3 isoforms:  Q9NPH2-1   Q9NPH2-2   Q9NPH2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ISYNA1: NX_Q9NPH2

Explore proteomics data for ISYNA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys155, Lys222, Lys312
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ISYNA1 (Q9NPH2) (see all 17)
     IKYVPYV  GGNNGST  LGVMLVG  NGSPQNT 


    See ISYNA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001164409.1  NP_001240318.1  NP_057452.1  

    ENSEMBL proteins: 
     ENSP00000463628   ENSP00000337746   ENSP00000415458   ENSP00000464528   ENSP00000475677  
     ENSP00000464209   ENSP00000463271   ENSP00000462001   ENSP00000463500   ENSP00000464430  
     ENSP00000315147   ENSP00000444679  
    Reactome Protein details: Q9NPH2

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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:
     IPR002587 Myo-inos-1-P_Synthase
     IPR013021 Myo-inos-1-P_Synthase_GAPDH
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9NPH2

    ProtoNet protein and cluster: Q9NPH2

    1 Blocks protein domain: IPB002587 Myo-inositol-1-phosphate synthase

    UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2
    Similarity: Belongs to the myo-inositol 1-phosphate synthase family


    Find genes that share domains with ISYNA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INO1_HUMAN, Q9NPH2
    Function: Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to
    1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all
    inositol-containing compounds
    Catalytic activity: D-glucose 6-phosphate = 1D-myo-inositol 3-phosphate
    Enzyme regulation: Inhibited by mood-stabilizing drugs such as valproate (VPA) and lithium
    Biophysicochemical properties: Kinetic parameters: KM=0.57 mM for 6-phosphate; KM=8 uM for NAD; pH dependence:
    Optimum pH is 8.0;
    Induction: By glucose and lovastain. Up-regulation is prevented by mevalonic acid, farnesol, and geranylgeraniol.
    Up-regulated by E2F1

         Enzyme Number (IUBMB): EC 5.5.1.41 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004512inositol-3-phosphate synthase activity TAS--
         
    Find genes that share ontologies with ISYNA1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ISYNA1

    miRNA
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    hsa-mir-320a (MIRT044693), hsa-mir-197-3p (MIRT004188)

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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
    INO1_HUMAN, Q9NPH2: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    chloroplast1
    endoplasmic reticulum1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ISYNA1           About GenesLikeMe


    (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 ISYNA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP2, IP, and Ins in the cytosol0.00
    3Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61


    Find genes that share SuperPaths with ISYNA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ISYNA1
        Synthesis of IP2, IP, and Ins in the cytosol


    2 Kegg Pathways  (Kegg details for ISYNA1):
        Inositol phosphate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2
    Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 1/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ISYNA1
    Interactions:

        Search GeneGlobe Interaction Network for ISYNA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ISYNA1 (Q9NPH22, 3 ENSP000003151474) via UniProtKB, MINT, STRING, and/or I2D (see all 106)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME2P223923, ENSP000003655724I2D: score=1 STRING: ENSP00000365572
    PPP2CAP677752, 3, ENSP000004184474MINT-65632 I2D: score=4 STRING: ENSP00000418447
    CAP2P401233, ENSP000002299224I2D: score=4 STRING: ENSP00000229922
    EEF2P136393, ENSP000003079404I2D: score=4 STRING: ENSP00000307940
    ERCC3P194473, ENSP000002853984I2D: score=4 STRING: ENSP00000285398
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006021inositol biosynthetic process IEA--
    GO:0008654phospholipid biosynthetic process IEA--
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with ISYNA1           About GenesLikeMe



    (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
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    Browse Tocris compounds for ISYNA1 (INO1)

    6 HMDB Compounds for ISYNA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1D-myo-Inositol 3-phosphateD-myo-Inositol 3-phosphate (see all 9)2831-74-5--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    Inositol phosphate1D-myo-Inositol 1-monophosphate (see all 4)15421-51-9--
    Myo-inositol 1-phosphate1-(dihydrogen phosphate) DL-myo-Inositol (see all 8)573-35-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    5 DrugBank Compounds for ISYNA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-Deoxy-D-Glucitol 6-(E)-Vinylhomophosphonate-- --target--17139284 17016423 10592235
    2-Deoxy-Glucitol-6-Phosphate-- --target--17139284 17016423 10592235
    Glycerol-- --target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Pyrophosphate 2--- --target--10592235



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ISYNA1 gene (4 alternative transcripts): 
    NM_001170938.1  NM_001253389.1  NM_016368.4  NM_001170939.1  

    Unigene Cluster for ISYNA1:

    Inositol-3-phosphate synthase 1
    Hs.405873  [show with all ESTs]
    Unigene Representative Sequence: NM_016368
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582811 ENST00000338128(uc002njd.2 uc010xqh.2) ENST00000457269
    ENST00000582287 ENST00000581672 ENST00000578963 ENST00000582770 ENST00000577916(uc002njb.2)
    ENST00000577820 ENST00000583816 ENST00000583309 ENST00000578352 ENST00000581800
    ENST00000583534 ENST00000317018 ENST00000545187(uc002nja.2 uc002njc.2 uc002nje.2)

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    Additional mRNA sequence: 

    AF086921.1 AF207640.1 AF220530.1 AK001325.1 AK021526.1 AK092179.1 AK093461.1 AK296022.1 
    AL137749.1 BC004320.1 BC018952.2 BC066902.1 NR_045573.1 NR_045574.1 

    Selected DOTS entries (see all 25):

    DT.85104226  DT.95278735  DT.91962553  DT.100881957  DT.91758900  DT.95278499  DT.95143351  DT.100881953 
    DT.95278725  DT.100881959  DT.121437702  DT.100038846  DT.121437722  DT.95244852  DT.100753340  DT.121437670 
    DT.437496  DT.95229283  DT.97862521  DT.100881961  DT.121437675  DT.121437680  DT.121437698  DT.95294902 

    Selected AceView cDNA sequences (see all 324):

    AI814293 AI625790 BP373535 BU521220 BU844429 AI223232 AX747545 NM_016368 
    CR600268 CD514961 CK904441 BQ576061 BQ680494 BP374273 BP343122 BC004320 
    AU119365 AL137749 BI915609 AI968935 BU729143 BF725260 AW195527 AW170236 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ISYNA1 (see all 15)    About this scheme

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

    ExUns: 11c ^ 12a · 12b · 12c
    SP1:  -                     
    SP2:  -                     
    SP3:  -                     
    SP4:  -                     
    SP5:                        


    ECgene alternative splicing isoforms for ISYNA1

    (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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    ISYNA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCTGGAAC
    ISYNA1 Expression
    About this image


    ISYNA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             Oviduct
     
     Gonad
             XY Germ Cells Testis Cord
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    ISYNA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ISYNA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405873

    UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2
    Tissue specificity: Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood
    leukocyte, thymus, skeletal muscle and colon

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    (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 eukaryotes.

    Orthologs for ISYNA1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Isyna11 , 5 myo-inositol 1-phosphate synthase A11, 5 82.49(n)1
    88.67(a)1
      8 (34.15 cM)5
    717801  NM_023627.11  NP_076116.11 
     705944815 
    lizard
    (Anolis carolinensis)
    Reptilia ISYNA16
    inositol-3-phosphate synthase 1
    71(a)
    1 ↔ 1
    GL344399.1(20868-36958)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526532 similar to myo-inositol 1-phosphate synthase A1 73.14(n)    BC044073.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Inos1 , 3 inositol-3-phosphate synthase3
    Inos1
    61(a)3
    66.73(n)1
    63.04(a)1
      43C43
    356711  NM_058057.61  NP_477405.11 
    worm
    (Caenorhabditis elegans)
    Secernentea inos-11 inos-1 57.53(n)
    54.21(a)
      174792  NM_064098.5  NP_496499.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes INO1(YJL153C)4
    INO11
    Inositol-3-phosphate synthase, involved in synthesis more4
    INO11
    54.13(n)1
    53.86(a)1
      10(135933-134332)4
    8532881, 4  NP_012382.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MIPS21 MIPS2 59.93(n)
    61.2(a)
      816757  NM_127790.3  NP_179812.1 
    rice
    (Oryza sativa)
    Liliopsida AK069323.12   -- 74.77(n)    AK069323.1 


    ENSEMBL Gene Tree for ISYNA1 (if available)
    TreeFam Gene Tree for ISYNA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ISYNA1 gene

    Find genes that share paralogs with ISYNA1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ISYNA1
    PGOHUM00000245867


    (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 ISYNA1 (see all 143)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406384861,2
    --18546005(+) GCCCCC/TCAAGC 5 -- int10--------
    rs2001580391,2
    --18546029(+) TAGCC-/AGGGGG 5 -- int10--------
    rs359266381,2
    C--18546030(+) GGGGG-/GTATCT 5 -- int12Minor allele frequency- G:0.25NA CSA 4
    rs1996118851,2
    --18546052(+) CGGGCA/GGGAAC 5 -- int10--------
    rs1407688101,2
    C,F--18546125(+) GACCAC/G/TCGGGC 13 M L V mis12NA EU 5801
    rs2017289711,2
    C--18546126(+) ACCACC/TGGGCT 8 P syn10--------
    rs2005814581,2
    --18546151(+) GTGGCA/GCCTTG 8 A V mis10--------
    rs1998535711,2
    C--18546201(+) TGCGGC/GTCGGG 8 D E mis10--------
    rs1458997181,2
    C--18546203(+) CGGCTC/GGGGGT 8 Q E mis10--------
    rs1176088401,2
    C,F--18546210(+) GGGTCC/TATGTC 8 I M mis12Minor allele frequency- T:0.00EA NA 4630

    HapMap Linkage Disequilibrium report for ISYNA1 (18545198 - 18549111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ISYNA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677302CNV Deletion23128226
    nsv911276CNV Loss21882294
    nsv911275CNV Loss21882294
    dgv3783n71CNV Loss21882294
    dgv3782n71CNV Loss21882294
    nsv911274CNV Loss21882294
    nsv482217CNV Gain20164927

    Human Gene Mutation Database (HGMD): ISYNA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ISYNA1
    DNA2.0 Custom Variant and Variant Library Synthesis for ISYNA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611670    OMIM disorders: --

    1 disease for ISYNA1:    
    About MalaCards
    fungal meningitis

    1 disease from the University of Copenhagen DISEASES database for ISYNA1:
    Fungal meningitis

    Find genes that share disorders with ISYNA1           About GenesLikeMe


    Export disorders for ISYNA1 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 ISYNA1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with ISYNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human 1-D-myo-inositol-3-phosphate synthase is functional in yeast. (PubMed id 15024000)1, 2, 3 Ju S.... Greenberg M.L. (J. Biol. Chem. 2004)
    2. cDNA cloning and gene expression analysis of human myo-inositol 1- phosphate synthase. (PubMed id 12941308)1, 2, 3 Guan G.... Shechter I. (Arch. Biochem. Biophys. 2003)
    3. E2F1 regulation of the human myo-inositol 1-phosphate synthase (ISYNA1) gene promoter. (PubMed id 15464731)1, 2 Seelan R.S.... Parthasarathy R.N. (Arch. Biochem. Biophys. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (Nat. Genet. 2013)
    6. Phosphorylation regulates myo-inositol-3-phosphate synthase: a novel regulatory mechanism of inositol biosynthesis. (PubMed id 23902760)1 Deranieh R.M....Greenberg M.L. (J. Biol. Chem. 2013)
    7. L-myo-inositol-1-phosphate synthase expressed in developing organ: isolation and characterisation of the enzyme from human fetal liver. (PubMed id 22707096)1 Chhetri D.R....Adhikari J. (Appl. Biochem. Biotechnol. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 51477 HGNC: 29821 AceView: ISYNA1 Ensembl:ENSG00000105655 euGenes: HUgn51477
    ECgene: ISYNA1 Kegg: 51477 H-InvDB: ISYNA1

    (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 ISYNA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ISYNA1 gene:
    Search GeneIP for patents involving ISYNA1

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



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