ISYNA1 (inositol-3-phosphate synthase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51477
Gene name Inositol-3-phosphate synthase 1
Gene symbol ISYNA1
Synonyms (NCBI Gene)
INO1INOSIPSIPS 1IPS-1
Chromosome 19
Chromosome location 19p13.11
Summary 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 splic
miRNA miRNA information provided by mirtarbase database.
16
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT004188 hsa-miR-197-3p Microarray 16822819
MIRT044693 hsa-miR-320a CLASH 23622248
MIRT1073181 hsa-miR-4726-3p CLIP-seq
MIRT1073182 hsa-miR-513a-5p CLIP-seq
MIRT1073183 hsa-miR-548b-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Activation 15464731
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004512 Function Inositol-3-phosphate synthase activity IBA
GO:0004512 Function Inositol-3-phosphate synthase activity IEA
GO:0004512 Function Inositol-3-phosphate synthase activity IGI 23902760
GO:0004512 Function Inositol-3-phosphate synthase activity IMP 23902760
GO:0005515 Function Protein binding IPI 21044950, 25416956, 25910212, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611670 29821 ENSG00000105655
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPH2
Protein name Inositol-3-phosphate synthase 1 (IPS 1) (EC 5.5.1.4) (Myo-inositol 1-phosphate synthase) (MI-1-P synthase) (MIP synthase) (hIPS) (Myo-inositol 1-phosphate synthase A1) (hINO1)
Protein 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 (PubMed:15024000, PubMed:23902760). Rate-limiting enzyme in the synthesis of all inosito
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07994 NAD_binding_5 59 → 491 Myo-inositol-1-phosphate synthase Family
PF01658 Inos-1-P_synth 307 → 420 Myo-inositol-1-phosphate synthase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood leukocyte, thymus, skeletal muscle and colon. {ECO:0000269|PubMed:12941308}.
Sequence
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways 		  Synthesis of IP2, IP, and Ins in the cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, ADENOID CYSTIC — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (152)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29290585
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29594979
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18567618
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23128378
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 16762588
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30579722
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30478411 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Stable Angina pectoris Pubtator 12775581 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 12189017 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 12775581 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only