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 ... See more...

Aliases for ISYNA1 Gene

Aliases for ISYNA1 Gene

  • Inositol-3-Phosphate Synthase 1 2 3 4 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 50
  • IPS 1 3 4
  • INO1 3 4
  • INOS 2 3
  • IPS 2 3
  • Testis Secretory Sperm-Binding Protein Li 200a 3
  • ISYNA1 5
  • IPS-1 3
  • HINO1 4
  • Ino1 2
  • HIPS 4

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 Nemaline Myopathy 1 and Granulomatous Disease, Chronic, Autosomal Recessive, 1. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include inositol-3-phosphate synthase activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISYNA1 Gene

Genomics for ISYNA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ISYNA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISYNA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISYNA1

Top Transcription factor binding sites by QIAGEN in the ISYNA1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myb
  • FOXO1
  • FOXO1a
  • Hlf
  • NF-kappaB1
  • Zic3

Genomic Locations for ISYNA1 Gene

Latest Assembly
chr19:18,434,388-18,438,649
(GRCh38/hg38)
Size:
4,262 bases
Orientation:
Minus strand

Previous Assembly
chr19:18,545,198-18,548,943
(GRCh37/hg19 by Entrez Gene)
Size:
3,746 bases
Orientation:
Minus strand

chr19:18,545,198-18,549,111
(GRCh37/hg19 by Ensembl)
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; Evidence={ECO:0000305};

    Alternative splice isoforms for ISYNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISYNA1 Gene

Selected DME Specific Peptides for ISYNA1 Gene

Q9NPH2:
  • IKYVPYV
  • LGVMLVG
  • NGSPQNT
  • GLQEQLWPHME
  • GDDFKSGQTK
  • HNTCEDSLLA
  • SPSTLFAVASILE
  • KAPLVPPG
  • YIPEFIAANQ
  • LWTANTER
  • VFDGWDISSLNLA
  • SYNHLGNNDG
  • GGNNGST
  • KSNVVDDM
  • LLTELCQRVSFCTD
  • KSVLVDFL
  • NGCTGDANGH

Post-translational modifications for ISYNA1 Gene

  • Ubiquitination at Lys155, Lys222, and Lys312
  • Modification sites at PhosphoSitePlus

Domains & Families for ISYNA1 Gene

Gene Families for ISYNA1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ISYNA1 Gene

InterPro:
Blocks:
  • Myo-inositol-1-phosphate synthase

Suggested Antigen Peptide Sequences for ISYNA1 Gene

GenScript: Design optimal peptide antigens:
  • Myo-inositol-1-phosphate synthase (INO1_HUMAN)

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

Function for ISYNA1 Gene

Molecular function for ISYNA1 Gene

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 CatalyticActivity:
Reaction=D-glucose 6-phosphate = 1D-myo-inositol 3-phosphate; Xref=Rhea:RHEA:10716, ChEBI:CHEBI:58401, ChEBI:CHEBI:61548; EC=5.5.1.4; Evidence={ECO:0000269|PubMed:15024000};.
UniProtKB/Swiss-Prot Induction:
By glucose and lovastain. Up-regulation is prevented by mevalonic acid, farnesol, and geranylgeraniol. Up-regulated by E2F1.
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 EnzymeRegulation:
Inhibited by mood-stabilizing drugs such as valproate (VPA) and lithium.

Enzyme Numbers (IUBMB) for ISYNA1 Gene

Phenotypes From GWAS Catalog for ISYNA1 Gene

Gene Ontology (GO) - Molecular Function for ISYNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004512 inositol-3-phosphate synthase activity IEA,IMP 23902760
GO:0005515 protein binding IPI 21044950
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with ISYNA1: view
genes like me logo Genes that share phenotypes with ISYNA1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ISYNA1

miRNA for ISYNA1 Gene

miRTarBase miRNAs that target ISYNA1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISYNA1

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISYNA1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISYNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ISYNA1: view

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.

SIGNOR curated interactions for ISYNA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ISYNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006021 inositol biosynthetic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with ISYNA1: view

Drugs & Compounds for ISYNA1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Target 207
NADH Approved Nutra 0
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-myo-Inositol 3-phosphate
  • 1D-Myo-inositol 3-monophosphate
  • 1l-Myo-inositol 1-phosphate
  • D-Myo-inositol 3-monophosphate
  • Inositol 3-phosphate
  • L-Myo-inositol 1-phosphate
2831-74-5
Inositol phosphate
  • 1D-Myo-inositol 1-monophosphate
  • D-Myo-inositol 1-phosphate
  • I1P
  • Inositol 1-phosphate
  • Ins(1)p
15421-51-9
genes like me logo Genes that share compounds with ISYNA1: view

Transcripts for ISYNA1 Gene

mRNA/cDNA for ISYNA1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISYNA1

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

Expression for ISYNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ISYNA1 Gene



Protein tissue co-expression partners for ISYNA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISYNA1

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.

Evidence on tissue expression from TISSUES for ISYNA1 Gene

  • Nervous system(4.8)
  • Eye(2.6)
  • Liver(2.4)
  • Kidney(2.3)
  • Pancreas(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ISYNA1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ISYNA1 Gene

Orthologs for ISYNA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISYNA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ISYNA1 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ISYNA1 29 30
  • 88.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ISYNA1 29 30
  • 87.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Isyna1 29 16 30
  • 82.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Isyna1 29
  • 82.43 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ISYNA1 30
  • 71 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ISYNA1 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia isyna1 29
  • 65.99 (n)
Str.563 29
African clawed frog
(Xenopus laevis)
Amphibia MGC52653 29
Fruit Fly
(Drosophila melanogaster)
Insecta Inos 29 30 31
  • 66.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011830 29
  • 65.86 (n)
Worm
(Caenorhabditis elegans)
Secernentea inos-1 29 30
  • 57.53 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INO1 29 30
  • 54.13 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16412g 29
  • 53.07 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MIPS2 29
  • 59.93 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7841 29
Soybean
(Glycine max)
eudicotyledons Gma.15564 29
Rice
(Oryza sativa)
Liliopsida Os03g0192700 29
  • 65 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.974 29
Wheat
(Triticum aestivum)
Liliopsida Ta.220 29
Corn
(Zea mays)
Liliopsida Zm.2986 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU06666 29
  • 63.21 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14431 29
Species where no ortholog for ISYNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ISYNA1: view image
Alliance of Genome Resources:
Additional Orthologs for ISYNA1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISYNA1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1034609025 Likely Benign: not provided 18,435,553(-) C/T
NM_016368.5(ISYNA1):c.1254+10G>A
INTRON
rs1301835348 Likely Benign: not provided 18,435,394(-) G/C
NM_016368.5(ISYNA1):c.1344C>G (p.Pro448=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs138475386 Likely Benign: not provided 18,435,559(-) G/T
NM_016368.5(ISYNA1):c.1254+4C>A
INTRON
rs1442757954 Likely Benign: not provided 18,436,989(-) G/A
NM_016368.5(ISYNA1):c.399C>T (p.Asn133=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs144717477 Benign: not provided 18,436,676(-) G/A
NM_016368.5(ISYNA1):c.609+8C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ISYNA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2677302 CNV deletion 23128226
nsv482217 CNV gain 20164927
nsv952420 CNV deletion 24416366

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)

Additional Variant Information for ISYNA1 Gene

Human Gene Mutation Database (HGMD)
ISYNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISYNA1
Leiden Open Variation Database (LOVD)
ISYNA1

SNP Genotyping and Copy Number Assays for research

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: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 ML (The Journal of biological chemistry 2004) 2 3 4
  2. cDNA cloning and gene expression analysis of human myo-inositol 1-phosphate synthase. (PMID: 12941308) Guan G … Shechter I (Archives of biochemistry and biophysics 2003) 2 3 4
  3. E2F1 regulation of the human myo-inositol 1-phosphate synthase (ISYNA1) gene promoter. (PMID: 15464731) Seelan RS … Parthasarathy RN (Archives of biochemistry and biophysics 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ISYNA1 Gene

Sources for ISYNA1 Gene