1. Gene
  2. ISYNA1 - inositol-3-phosphate synthase 1 Gene

ISYNA1 - inositol-3-phosphate synthase 1 Gene

Homo sapiens

Also known as IPS; INO1; INOS; IPS 1; IPS-1

Gene ID: 51477 | Gene type: protein coding

About ISYNA1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,434,388-18,438,133 (from NCBI)

This gene has 14 transcripts (splice variants) and 208 orthologues. Broad expression in testis (RPKM 72.6), placenta (RPKM 57.0) and 14 other tissues.

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 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]

ISYNA1 Products(3)

mRNA Protein Name
NM_001170938.2 NP_001164409.1 inositol-3-phosphate synthase 1 isoform 2
NM_001253389.2 NP_001240318.1 inositol-3-phosphate synthase 1 isoform 4
NM_016368.5 NP_057452.1 inositol-3-phosphate synthase 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables inositol-3-phosphate synthase activity IGI
IGI: Inferred from genetic interaction
23902760 GOA
enables inositol-3-phosphate synthase activity IMP
IMP: Inferred from mutant phenotype
23902760 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Biological Process GO Annotation Evidence Reference Source
involved in inositol biosynthetic process IGI
IGI: Inferred from genetic interaction
23902760 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISYNA1 Protein Structure

NAD_binding_5

NAD_binding_5: Myo-inositol-1-phosphate synthase (59 - 491)

Inos-1-P_synth

Inos-1-P_synth: Myo-inositol-1-phosphate synthase (307 - 420)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 558 a.a.
Protein Preferred Names Protein Names

inositol-3-phosphate synthase 1

MI-1-P synthase

ISYNA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Y2H Bait-Prey Pool
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Y2H Array
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
25416956
Intra ISYNA1 Q9NPH2 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra ISYNA1 Q9NPH2 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra ISYNA1 Q9NPH2 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lidocaine Allergy

Lidoderm Allergy

Lignocaine Allergy

Xylocaine Allergy

Nemaline Myopathy 1

Cap Myopathy 1

NEM1

Nemaline Myopathy 1, Autosomal Dominant Or Recessive

Nemaline Myopathy, Type 1

CAPM1

Cap Disease

Cap Myopathy Tpm3-Related

Nemaline Myopathy 1 Autosomal Dominant Or Recessive

Myopathy, Nemaline, Type 1

Cap Myopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ISYNA1 VGNC VGNC:73685
Bos taurus ISYNA1 VGNC VGNC:30306
Canis familiaris ISYNA1 VGNC VGNC:42116
Mus musculus ISYNA1 MGD MGI:1919030
Rattus norvegicus ISYNA1 RGD RGD:1359423
Felis catus ISYNA1 VGNC VGNC:62982