• Gene id: 51477

Gene Summary

• Gene Symbol: ISYNA1   Gene   UCSC   Ensembl
• Aliases: INO1, INOS, IPS, IPS 1, IPS-1
• Gene name: inositol-3-phosphate synthase 1
• Alternate names: inositol-3-phosphate synthase 1, MI-1-P synthase, MIP synthase, myo-inositol 1-phosphate synthase A1, testis secretory sperm-binding protein Li 200a,
• Gene location: 19p13.11 (18438648: 18434387)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 611670

Protein Summary

• Protein general information: Q9NPH2  
  • 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)
  • Length: 558  
  • Mass: 61068
  • Tissue specificity: Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood leukocyte, thymus, skeletal muscle and colon. {ECO
• Sequence:

  MEAAAQFFVESPDVVYGPEAIEAQYEYRTTRVSREGGVLKVHPTSTRFTFRTARQVPRLGVMLVGWGGNNGSTLT
  AAVLANRLRLSWPTRSGRKEANYYGSLTQAGTVSLGLDAEGQEVFVPFSAVLPMVAPNDLVFDGWDISSLNLAEA
  MRRAKVLDWGLQEQLWPHMEALRPRPSVYIPEFIAANQSARADNLIPGSRAQQLEQIRRDIRDFRSSAGLDKVIV
  LWTANTERFCEVIPGLNDTAENLLRTIELGLEVSPSTLFAVASILEGCAFLNGSPQNTLVPGALELAWQHRVFVG
  GDDFKSGQTKVKSVLVDFLIGSGLKTMSIVSYNHLGNNDGENLSAPLQFRSKEVSKSNVVDDMVQSNPVLYTPGE
  EPDHCVVIKYVPYVGDSKRALDEYTSELMLGGTNTLVLHNTCEDSLLAAPIMLDLALLTELCQRVSFCTDMDPEP
  QTFHPVLSLLSFLFKAPLVPPGSPVVNALFRQRSCIENILRACVGLPPQNHMLLEHKMERPGPSLKRVGPVAATY
  PMLNKKGPVPAATNGCTGDANGHLQEEPPMPTT

• Structural information:
  • Interpro: IPR002587  IPR013021  IPR036291  
  • STRING: ENSP00000337746
• Other Databases: GeneCards:  ISYNA1  Malacards:  ISYNA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004512	inositol-3-phosphate synthase activity	IMP	molecular function
GO:0006021	inositol biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004512	inositol-3-phosphate synthase activity	IBA	molecular function
GO:0006021	inositol biosynthetic process	IEA	biological process
GO:0004512	inositol-3-phosphate synthase activity	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006021	inositol biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0004512	inositol-3-phosphate synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006021	inositol biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq