INPP1 (inositol polyphosphate-1-phosphatase)

Gene

• Entrez ID: 3628
• Gene name: Inositol polyphosphate-1-phosphatase
• Gene symbol: INPP1
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q32.2
• Summary: This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1067106	hsa-miR-128	CLIP-seq
MIRT1067107	hsa-miR-27a	CLIP-seq
MIRT1067108	hsa-miR-27b	CLIP-seq
MIRT1067109	hsa-miR-4328	CLIP-seq
MIRT1067110	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004441	Function	Inositol-1,4-bisphosphate 1-phosphatase activity	IBA
GO:0004441	Function	Inositol-1,4-bisphosphate 1-phosphatase activity	IEA
GO:0004441	Function	Inositol-1,4-bisphosphate 1-phosphatase activity	ISS
GO:0004441	Function	Inositol-1,4-bisphosphate 1-phosphatase activity	TAS	8390685
GO:0005515	Function	Protein binding	IPI	26871637
GO:0005829	Component	Cytosol	TAS
GO:0006796	Process	Phosphate-containing compound metabolic process	TAS	8390685
GO:0007165	Process	Signal transduction	TAS	8390685
GO:0016787	Function	Hydrolase activity	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0052829	Function	Inositol-1,3,4-trisphosphate 1-phosphatase activity	ISS

Other IDs

• MIM: 147263
• HGNC: 6071
• e!Ensembl: ENSG00000151689

Protein

• UniProt ID: P49441
• Protein name: Inositol polyphosphate 1-phosphatase (IPP) (IPPase) (EC 3.1.3.57)
• Protein function: Mg(2+)-dependent phosphatase that catalyzes the hydrolysis of the 1-position phosphate from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate and participates in inositol phosphate metabolism.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00459	Inositol_P	74 → 381	Inositol monophosphatase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in pancreas and kidney.
• Sequence:

  MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEV
  IKQNMENKFPGLEKNIFGEESNEFTNDWGEKITLRLCSTEEETAELLSKVLNGNKVASEA
  LARVVHQDVAFTDPTLDSTEINVPQDILGIWVDPIDSTYQYIKGSADIKSNQGIFPCGLQ
  CVTILIGVYDIQTGVPLMGVINQPFVSRDPNTLRWKGQCYWGLSYMGTNMHSLQLTISRR
  NGSETHTGNTGSEAAFSPSFSAVISTSEKETIKAALSRVCGDRIFGAAGAGYKSLCVVQG
  LVDIYIFSEDTTFKWDSCAAHAILRAMGGGIVDLKECLERNPETGLDLPQLVYHVENEGA
  AGVDRWANKGGLIAYRSRKRLETFLSLLVQNLAPAETHT

• Sequence length: 399

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of IP2, IP, and Ins in the cytosol

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACHADO-JOSEPH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	CTD_human_DG	14627686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	10780272, 11901356, 9682271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	10780272, 11901356, 16787706, 9682271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10747296		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10780272, 11901356, 9682271		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10747296, 24738946		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24738946		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31557403	Associate	★☆☆☆☆ Found in Text Mining only