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Aliases for ISYNA1 Gene

Aliases for ISYNA1 Gene

  • Inositol-3-Phosphate Synthase 1 2 3 5
  • Myo-Inositol 1-Phosphate Synthase A1 3 4
  • Myo-Inositol 1-Phosphate Synthase 2 4
  • MI-1-P Synthase 3 4
  • MIP Synthase 3 4
  • EC 5.5.1.4 4 63
  • IPS 1 3 4
  • INO1 3 4
  • Testis Secretory Sperm-Binding Protein Li 200a 3
  • IPS-1 3
  • HINO1 4
  • INOS 3
  • HIPS 4
  • IPS 3

External Ids for ISYNA1 Gene

Previous GeneCards Identifiers for ISYNA1 Gene

  • GC19M019039
  • GC19M018937
  • GC19M018390
  • GC19M018545
  • GC19M018108

Summaries for ISYNA1 Gene

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 ichthyosis prematurity syndrome and fungal meningitis. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include inositol-3-phosphate synthase activity.

UniProtKB/Swiss-Prot for ISYNA1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISYNA1 Gene

Genomics for ISYNA1 Gene

Regulatory Elements for ISYNA1 Gene

Promoters for ISYNA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ISYNA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ISYNA1 Gene

Chromosome:
19
Start:
18,434,388 bp from pter
End:
18,438,301 bp from pter
Size:
3,914 bases
Orientation:
Minus strand

Genomic View for ISYNA1 Gene

Genes around ISYNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISYNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISYNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISYNA1 Gene

Proteins for ISYNA1 Gene

  • Protein details for ISYNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPH2-INO1_HUMAN
    Recommended name:
    Inositol-3-phosphate synthase 1
    Protein Accession:
    Q9NPH2
    Secondary Accessions:
    • B3KRT1
    • G5E9U0
    • Q6NXT5
    • Q7Z525
    • Q9BT65
    • Q9H2Y2
    • Q9NSU0
    • Q9NVW7

    Protein attributes for ISYNA1 Gene

    Size:
    558 amino acids
    Molecular mass:
    61068 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP97151.1; Type=Frameshift; Positions=82, 85, 496; Evidence={ECO:0000305};

    Alternative splice isoforms for ISYNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISYNA1 Gene

Proteomics data for ISYNA1 Gene at MOPED

Post-translational modifications for ISYNA1 Gene

  • Ubiquitination at Lys 155, Lys 222, and Lys 312
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ISYNA1 Gene

Suggested Antigen Peptide Sequences for ISYNA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPH2

UniProtKB/Swiss-Prot:

INO1_HUMAN :
  • Belongs to the myo-inositol 1-phosphate synthase family.
Family:
  • Belongs to the myo-inositol 1-phosphate synthase family.
genes like me logo Genes that share domains with ISYNA1: view

No data available for Gene Families for ISYNA1 Gene

Function for ISYNA1 Gene

Molecular function for ISYNA1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.57 mM for 6-phosphate {ECO:0000269 PubMed:15024000}; KM=8 uM for NAD {ECO:0000269 PubMed:15024000}; pH dependence: Optimum pH is 8.0. {ECO:0000269 PubMed:15024000};
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate = 1D-myo-inositol 3-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by mood-stabilizing drugs such as valproate (VPA) and lithium.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By glucose and lovastain. Up-regulation is prevented by mevalonic acid, farnesol, and geranylgeraniol. Up-regulated by E2F1.

Enzyme Numbers (IUBMB) for ISYNA1 Gene

Phenotypes for ISYNA1 Gene

genes like me logo Genes that share phenotypes with ISYNA1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ISYNA1

miRNA for ISYNA1 Gene

miRTarBase miRNAs that target ISYNA1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISYNA1 Gene

Localization for ISYNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISYNA1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISYNA1 Gene COMPARTMENTS Subcellular localization image for ISYNA1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 2
nucleus 2
chloroplast 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ISYNA1 Gene

Pathways & Interactions for ISYNA1 Gene

genes like me logo Genes that share pathways with ISYNA1: view

Pathways by source for ISYNA1 Gene

UniProtKB/Swiss-Prot Q9NPH2-INO1_HUMAN

  • Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 1/2.

Gene Ontology (GO) - Biological Process for ISYNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043647 inositol phosphate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ISYNA1: view

No data available for SIGNOR curated interactions for ISYNA1 Gene

Drugs & Compounds for ISYNA1 Gene

(6) Drugs for ISYNA1 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Experimental Pharma Target 191
2-Deoxy-D-Glucitol 6-(E)-Vinylhomophosphonate Experimental Pharma Target 0
2-Deoxy-Glucitol-6-Phosphate Experimental Pharma Target 0
Glucose 6-phosphate Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for ISYNA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-myo-Inositol 3-phosphate
  • 1D-Myo-Inositol 3-monophosphate
  • 1L-Myo-Inositol 1-phosphate
  • D-Myo-Inositol 3-monophosphate
  • D-Myo-Inositol 3-phosphate
  • Inositol 3-monophosphate
2831-74-5
Inositol phosphate
  • 1D-Myo-Inositol 1-monophosphate
  • 1D-Myo-Inositol 1-phosphate
  • D-Myo-Inositol-1-Phosphate
  • Inositol 1-monophosphate
15421-51-9
Myo-inositol 1-phosphate
  • 1-(Dihydrogen phosphate) DL-myo-Inositol
  • 1-(Dihydrogen phosphate) myo-Inositol
  • DL-myo-Inositol 1-phosphate
  • Myo-Inositol 1-monophosphate
  • Myo-Inositol 1-phosphate
573-35-3
genes like me logo Genes that share compounds with ISYNA1: view

Transcripts for ISYNA1 Gene

Unigene Clusters for ISYNA1 Gene

Inositol-3-phosphate synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ISYNA1 Gene

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: - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: -
SP10: - -
SP11: - - -
SP12: - - -
SP13:
SP14: - - - - - - -
SP15: -

ExUns: 11c ^ 12a · 12b · 12c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ISYNA1 Gene

GeneLoc Exon Structure for
ISYNA1
ECgene alternative splicing isoforms for
ISYNA1

Expression for ISYNA1 Gene

mRNA expression in normal human tissues for ISYNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISYNA1 Gene

This gene is overexpressed in Testis (x7.3).

Protein differential expression in normal tissues from HIPED for ISYNA1 Gene

This gene is overexpressed in Testis (18.7) and Fetal ovary (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ISYNA1 Gene



SOURCE GeneReport for Unigene cluster for ISYNA1 Gene Hs.405873

mRNA Expression by UniProt/SwissProt for ISYNA1 Gene

Q9NPH2-INO1_HUMAN
Tissue specificity: Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood leukocyte, thymus, skeletal muscle and colon.
genes like me logo Genes that share expression patterns with ISYNA1: view

Protein tissue co-expression partners for ISYNA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ISYNA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISYNA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ISYNA1 35
  • 87.77 (n)
  • 92.63 (a)
ISYNA1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISYNA1 35
  • 88.25 (n)
  • 92.81 (a)
ISYNA1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Isyna1 35
  • 82.49 (n)
  • 88.67 (a)
Isyna1 16
Isyna1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ISYNA1 35
  • 99.58 (n)
  • 99.5 (a)
ISYNA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isyna1 35
  • 82.43 (n)
  • 89.03 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ISYNA1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISYNA1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isyna1 35
  • 65.99 (n)
  • 71.59 (a)
Str.563 35
African clawed frog
(Xenopus laevis)
Amphibia MGC52653 35
fruit fly
(Drosophila melanogaster)
Insecta Inos 37
  • 61 (a)
Inos 35
  • 66.73 (n)
  • 63.04 (a)
Inos 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011830 35
  • 65.86 (n)
  • 61.34 (a)
worm
(Caenorhabditis elegans)
Secernentea inos-1 35
  • 57.53 (n)
  • 54.21 (a)
inos-1 36
  • 53 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16412g 35
  • 53.07 (n)
  • 52.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INO1 35
  • 54.13 (n)
  • 53.86 (a)
INO1 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons MIPS2 35
  • 59.93 (n)
  • 61.2 (a)
soybean
(Glycine max)
eudicotyledons Gma.15564 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7841 35
barley
(Hordeum vulgare)
Liliopsida Hv.974 35
rice
(Oryza sativa)
Liliopsida Os03g0192700 35
  • 65 (n)
  • 63 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.220 35
corn
(Zea mays)
Liliopsida Zm.2986 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14431 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06666 35
  • 63.21 (n)
  • 59.56 (a)
Species with no ortholog for ISYNA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • zebrafish (Danio rerio)

Evolution for ISYNA1 Gene

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

Paralogs for ISYNA1 Gene

Pseudogenes.org Pseudogenes for ISYNA1 Gene

genes like me logo Genes that share paralogs with ISYNA1: view

No data available for Paralogs for ISYNA1 Gene

Variants for ISYNA1 Gene

Sequence variations from dbSNP and Humsavar for ISYNA1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2385089 -- 18,439,624(+) TAAAA(A/C)AAAAA upstream-variant-2KB
rs2431132 -- 18,440,087(+) agtga(A/G)ccatg upstream-variant-2KB
rs2434471 -- 18,440,060(-) gagct(C/T)aagtg upstream-variant-2KB
rs2434472 -- 18,440,058(-) gctca(A/G)gtgat upstream-variant-2KB
rs2303696 -- 18,438,074(-) GGGGC(A/G)GGGAC intron-variant, nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ISYNA1 Gene

Variant ID Type Subtype PubMed ID
nsv911274 CNV Loss 21882294
nsv911275 CNV Loss 21882294
nsv911276 CNV Loss 21882294
dgv3782n71 CNV Loss 21882294
dgv3783n71 CNV Loss 21882294
esv2677302 CNV Deletion 23128226
nsv482217 CNV Gain 20164927

Variation tolerance for ISYNA1 Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ISYNA1 Gene

HapMap Linkage Disequilibrium report
ISYNA1
Human Gene Mutation Database (HGMD)
ISYNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISYNA1 Gene

Disorders for ISYNA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ISYNA1 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
ichthyosis prematurity syndrome
  • ichthyosis congenita iv
fungal meningitis
  • meningitis, fungal
whipple disease
  • intestinal lipodystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ISYNA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ISYNA1
genes like me logo Genes that share disorders with ISYNA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISYNA1 Gene

Publications for ISYNA1 Gene

  1. Human 1-D-myo-inositol-3-phosphate synthase is functional in yeast. (PMID: 15024000) Ju S. … Greenberg M.L. (J. Biol. Chem. 2004) 2 3 4 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. cDNA cloning and gene expression analysis of human myo-inositol 1- phosphate synthase. (PMID: 12941308) Guan G. … Shechter I. (Arch. Biochem. Biophys. 2003) 2 3
  5. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26

Products for ISYNA1 Gene

Sources for ISYNA1 Gene

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