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Aliases & Descriptionsfor ISYNA1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions inositol-3-phosphate synthase 11 2 MIP synthase2 3 IPS1 2 5 hIPS2 3 INOS1 2 IPS 12 3 Myo-inositol 1-phosphate synthase A12 3 hINO12 3 Myo-inositol-1-phosphate synthase2 3 Ino11 INO12 3 EC 5.5.1.43 MI-1-P synthase2 3
Export aliases for ISYNA1 gene to outside databases Previous GC identifers: GC19M019039 GC19M018937 GC19M018390 GC19M018406 GC19M018545
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Summariesfor ISYNA1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ISYNA1 : Myoinositol, the most common naturally occurring form of inositol, is a component of plasma membrane phospholipids and functions as a cell signaling molecule. ISYNA1 (EC 5.5.1.4), or IPS, is a rate-limiting enzyme that catalyzes the de novo synthesis of myoinositol 1-phosphate from glucose 6-phosphate (Seelan et al., 2004 (PubMed 15464731)).(supplied by OMIM) UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 Function : Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds
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Genomic Viewsfor ISYNA1 gene
(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 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ISYNA1 gene promoter: YY1 STAT3 RFX1 p300 E2F-1 E2F E47 ZID AhR Arnt Other transcription factors Search SABiosciences Chromatin IP Primers for ISYNA1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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) GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure
GeneLoc location for GC19M018108: view genomic region
(about GC identifiers )
Start:
18,108,499 bp from pter
End:
18,112,412 bp from pter
Size:
3,914 bases
Orientation:
minus strand
1 alternative location : Chr 19- 18,545,625-18,548,943
RefSeq DNA sequence: NC_000019.9 NT_011295.11
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Proteinsfor ISYNA1 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 (See
protein sequence )Recommended Name: Inositol-3-phosphate synthase 1 Size : 558 amino acids; 61068 Da
Cofactor : NAD
Subcellular location : Cytoplasm (By similarity)
Sequence caution : Sequence=AAP97151.1; Type=Frameshift; Positions=82, 85, 496;
Secondary accessions : Q6NXT5 Q7Z525 Q9BT65 Q9H2Y2 Q9NSU0 Q9NVW7Alternative splicing : 2 isoforms : Q9NPH2-1 Q9NPH2-2 Explore the universe of human proteins at neXtProt for ISYNA1: NX_Q9NPH2 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001164409.1 NP_001164410.1 NP_057452.1 ENSEMBL proteins: ENSP00000315147 ENSP00000337746 ENSP00000415458 Human Recombinant Proteins 1 Gene Ontology (GO) cellular component term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005737 cytoplasm
IEA --
About this table
ISYNA1 for ontologies About GeneDecksing Antibodies for ISYNA1: Assays for ISYNA1:
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Protein
Domains/ Familiesfor ISYNA1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ISYNA1 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9NPH2 ProtoNet protein and cluster: Q9NPH2
1 Blocks protein family : IPB002587 Myo-inositol-1-phosphate synthase UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 Similarity : Belongs to the myo-inositol-1-phosphate synthase family
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Gene Functionfor ISYNA1 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 Function : Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to1-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-phosphateEnzyme regulation : Inhibited by mood-stabilizing drugs such as valproate (VPA) and lithiumBiophysicochemical properties : Kinetic parameters: KM=0.57 mM for 6-phosphate; KM=8 uM for NAD; pH dependence: OptimumpH 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 5.5.1.4
3 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004512 inositol-3-phosphate synthase activity
IEA -- GO:0005488 binding
IEA -- GO:0016853 isomerase activity
IEA --
About this table
ISYNA1 for ontologies About GeneDecksing
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Pathways & Interactionsfor ISYNA1 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
ISYNA1 for pathways About GeneDecksing 1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for ISYNA1 2 Kegg Pathways (Kegg details for ISYNA1) :UniProtKB/Swiss-Prot: INO1_HUMAN, Q9NPH2 Pathway : Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 1/2 SABiosciences Custom Pathway-Focused PCR Arrays for ISYNA1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ISYNA1 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ISYNA1 5/9 Interacting proteins for ISYNA1 (Q9NPH2 2 ENSP00000315147 3 ) via UniProtKB, MINT, and/or STRING (see all 9 )
About this table 2 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006021 inositol biosynthetic process
IEA -- GO:0008654 phospholipid biosynthetic process
IEA --
About this table
ISYNA1 for ontologies About GeneDecksing
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Drugs & Compoundsfor ISYNA1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for ISYNA1
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Transcriptsfor ISYNA1 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for ISYNA1 gene (3 alternative transcripts): NM_001170938.1 NM_001170939.1 NM_016368.4
Additional cDNA 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 CR599696.1 CR600268.1 CR606285.1 CR606341.1
24/25 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 24/324 AceView cDNA sequences (see all 324 ):
BG939449 AW195527 BU845065 CR606285 CD627838 CR599696 BI915609 BP373535 AK092433 BE645558 AX747545 AU119365 BQ002216 AK021526 BQ680494 CD722506 BQ576061 BP343122 BU844429 BM797041 BF116039 BU521220 CD243250 AI814293
highest scoring ESTs for ISYNA1 :AA216666 AF086921 AF207640 AF220530 AI625790 AI672316 AI817229 AK021526 AK092179 AK093461 Unigene Cluster for ISYNA1:
Inositol-3-phosphate synthase 1 Hs.405873 [show with all ESTs ] Unigene Representative Sequence: NM_016368 GeneLoc Exon Structure 5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ISYNA1 (see all 15 ) 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 :        
About this scheme ECgene alternative splicing isoforms for ISYNA1 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000317018 (uc002nja.1 uc002njb.1 uc002njc.1 uc002njd.1 uc010xqh.1 uc002nje.1 uc002njf.1 )ENST00000338128 ENST00000457269
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Expression for ISYNA1 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section ISYNA1 expression in normal and diseased human tissues 1 / 2 / 3
7 probe-sets matching ISYNA1 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
49690_at2 , 3
U95-C
1
1.00
1.00
0.84
1.26
AI817229
0.80
0.88
0.84
1
76665_at2 , 3
U95-E
1
0.75
1.00
0.98
0.76
AA216666
1.00
0.90
0.95
1
48092_at2 , 3
U95-B
1
0.50
1.00
0.33
1.00
AI739562
0.20
1.00
0.72
1
222240_s_at2 , 3
U133-A
1
1.00
1.00
--
--
AL137749
0.60
0.83
0.73
1
229324_x_at*2
U133-B
NULL
0.00
0.00
--
--
--
--
--
--
--
222240_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
229324_x_at*2
U133Plus2
NULL
0.00
0.00
--
--
--
--
--
--
--
About this table
ISYNA1 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CTCCTGGAAC 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 bloodleukocyte, thymus, skeletal muscle and colon
SABiosciences Custom PCR Arrays for ISYNA1
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Orthologsfor ISYNA1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for ISYNA1 gene from 5/22 species (see all 22 )
About this table Species with no ortholog for ISYNA1 ENSEMBL Gene Tree for ISYNA1 (if available)
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Paralogsfor ISYNA1 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section --
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Genomic Variantsfor ISYNA1 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 19 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for ISYNA1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ISYNA1: --
QIAGEN SeqTarget long-range PCR primers for resequencing ISYNA1
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Disorders & Mutationsfor ISYNA1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ISYNA1 for disorders About GeneDecksing
OMIM: 611670 Human Gene Mutation Database (HGMD) : ISYNA1 Export disorders and mutations for ISYNA1 gene to outside databases
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Medical Newsfor ISYNA1 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor ISYNA1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/12 PubMed articles for ISYNA1 gene, integrated from 7 sources (see all 12 ): (articles sorted by number of sources associating them with ISYNA1) Human 1-D-myo-inositol-3-phosphate synthase is functional in yeast. (PubMed id 15024000) 1 , 2 , 3 Ju S.... Greenberg M.L. (2004) cDNA cloning and gene expression analysis of human myo-inositol 1-phosphate synthase. (PubMed id 12941308) 1 , 2 , 3 Guan G....Shechter I. (2003) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) E2F1 regulation of the human myo-inositol 1-phosphate synthase (ISYNA1) gene promoter. (PubMed id 15464731) 1 , 2 Seelan R.S.... Parthasarathy R.N. (2004) Human MIP synthase splice variants in bipolar disorder. (PubMed id 17988368) 2 Shamir A.... Agam G. (2007) Effects of valproate derivatives on human brain myo-inositol-1- phosphate (MIP) synthase activity and amphetamine-induced rearing. (PubMed id 17901568) 2 Galit S.... Galila A. (2007) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) Mammalian inositol 3-phosphate synthase: its role in the biosynthesis of brain inositol and its clinical use as a psychoactive agent. (PubMed id 17121280) 2 Parthasarathy L.K....Parthasarathy R.N. (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070) 1 Stelzl U.... Wanker E.E. (2005)
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External Searches for ISYNA1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ISYNA1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing ISYNA1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing ISYNA1 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section 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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Productsfor ISYNA1 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for ISYNA1
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