Inositol polyphosphate-5-phosphatase A (INPP5A)
The protein contains 412 amino acids for an estimated molecular weight of 47820 Da.
Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate (PubMed:8013665, PubMed:8769125, PubMed:8626616). Plays a crucial role in the survival of cerebellar Purkinje cells (By similarity). (updated: Oct. 7, 2020)
Protein identification was indicated in the following studies:
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.
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| Variant | Description |
|---|---|
| dbSNP:rs1133400 |
The reference OMIM entry for this protein is 600106
Inositol polyphosphate-5-phosphatase, 40-kd; inpp5a
CLONING
The phosphatidylinositols serve as precursors for a number of different messenger molecules. Agonist stimulation of cells results in phosphatidylinositol turnover and the generation of inositol 1,4,5-triphosphate, Ins(1,4,5)P3, which mobilizes intracellular calcium. The inositol polyphosphate-5-phosphatase enzymes hydrolyze Ins(1,4,5)P3 in a signal-terminating reaction. Laxminarayan et al. (1994) isolated a 2.7-kb composite cDNA encoding the 43-kD membrane-associated 5-phosphatase by screening a human placental lambda-gt11 library using degenerate oligonucleotides. The 2.7-kb cDNA contained a 1.1-kb open reading frame, comprising 363 amino acids, which encoded a protein of predicted molecular mass of 42 kD. They showed that a 73-amino acid domain in the COOH terminus of the 43-kD membrane-associated 5-phosphatase had 30% sequence identity and 67% similarity to a region in the 75-kD 5-phosphatase (147264) and 34% identity and 70% similarity to a sequence in the protein that is encoded by the gene defective in Lowe oculocerebral renal syndrome (OCRL1; 300535). The 43-kD membrane-associated 5-phosphatase appeared to be predominantly expressed in heart, brain, and skeletal muscle.MAPPING
By fluorescence in situ hybridization, Mitchell et al. (1996) mapped the INPP5A gene to 10q26.3. They gave the size of the protein as 43 kD. The 75-kD protein (147264) is encoded by a gene at 1p34. The gene that is mutated in Lowe oculocerebral renal syndrome is similar to inositol polyphosphate 5-phosphatase and maps to Xq26.1. ... More on the omim web site
Oct. 20, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
July 4, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 600106 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).