1. Gene
  2. INPP5D - inositol polyphosphate-5-phosphatase D Gene

INPP5D - inositol polyphosphate-5-phosphatase D Gene

Homo sapiens

Also known as SHIP; SHIP1; SHIP-1; hp51CN; SIP-145; p150Ship

Gene ID: 3635 | Gene type: protein coding

About INPP5D

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,060,342-233,207,903 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 215 orthologues and 13 paralogues. Broad expression in lymph node (RPKM 33.2), spleen (RPKM 31.1) and 21 other tissues.

Summary

This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol Phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]

INPP5D Products(2)

mRNA Protein Name
NM_001017915.3 NP_001017915.1 phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform a
NM_005541.5 NP_005532.2 phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform b
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
9148918 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

INPP5D Protein Structure

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (30 - 322)

  • 0
  • 200
  • 400
  • 600
  • 810 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1

SH2 domain-containing inositol 5'-phosphatase 1

Related Diseases

Diseases Alias
Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis

Lymphoproliferative Syndrome

Lymphoproliferative Disorder

Lymphoproliferative Disorders

Lymphoproliferative Disorders, Susceptibility To

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

Nasu-Hakola Disease

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy

Plosl

Nhd

Presenile Dementia With Bone Cysts

Plo-Sl

PLOSL1

Dementia, Prefrontal, With Bone Cysts

Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Progressive Dementia With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

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
Felis catus INPP5D VGNC VGNC:67809
Mus musculus INPP5D MGD MGI:107357
Bos taurus INPP5D VGNC VGNC:30212
Macaca mulatta INPP5D VGNC VGNC:73751
Canis familiaris INPP5D VGNC VGNC:42032
Rattus norvegicus INPP5D RGD RGD:2914