1. Gene
  2. INPP5A - inositol polyphosphate-5-phosphatase A Gene

INPP5A - inositol polyphosphate-5-phosphatase A Gene

Homo sapiens

Also known as 5PTASE

Gene ID: 3632 | Gene type: protein coding

About INPP5A

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:132,537,787-132,783,480 (from NCBI)

This gene has 7 transcripts (splice variants) and 197 orthologues. Ubiquitous expression in heart (RPKM 7.6), testis (RPKM 4.7) and 25 other tissues.

Summary

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

INPP5A Products(2)

mRNA Protein Name
NM_001321042.2 NP_001307971.1 inositol polyphosphate-5-phosphatase A isoform b
NM_005539.5 NP_005530.3 inositol polyphosphate-5-phosphatase A isoform a
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables PH domain binding IPI
IPI: Inferred from physical interaction
8999861 GOA
enables inositol-polyphosphate 5-phosphatase activity IDA
IDA: Inferred from direct assay
8006039 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8999861 GOA
Cellular Component GO Annotation Evidence Reference Source
located in membrane IDA
IDA: Inferred from direct assay
8006039 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
8626616 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

INPP5A Protein Structure

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (15 - 373)

  • 0
  • 100
  • 200
  • 300
  • 412 a.a.
Protein Preferred Names Protein Names

inositol polyphosphate-5-phosphatase A

43 kDa inositol polyphosphate 5-phophatase

INPP5A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
INPP5A Q14642 PLEK Homo sapiens P08567 8999861
Intra
INPP5A Q14642 TEAD2 Homo sapiens Q15562-2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant INPP5A Proteins

Cat. No. Product Name Accession Purity
HY-P70834 INPP5A Protein, Human (HEK293, His) Q14642 (M1-V410) ≥95%

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

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
Rattus norvegicus INPP5A RGD RGD:1306168
Bos taurus INPP5A VGNC VGNC:30210
Mus musculus INPP5A MGD MGI:2686961
Macaca mulatta INPP5A VGNC VGNC:73749
Canis familiaris INPP5A VGNC VGNC:42030
Felis catus INPP5A VGNC VGNC:67807
Others INPP5A NCBI