Gene Gene information from NCBI Gene database.
Entrez ID 3632
Gene name Inositol polyphosphate-5-phosphatase A
Gene symbol INPP5A
Synonyms (NCBI Gene)
5PTASE
Chromosome 10
Chromosome location 10q26.3
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
miRNA miRNA information provided by mirtarbase database.
365
miRTarBase ID miRNA Experiments Reference
MIRT029103 hsa-miR-26b-5p Microarray 19088304
MIRT042796 hsa-miR-339-5p CLASH 23622248
MIRT054208 hsa-miR-210-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23028679
MIRT177101 hsa-miR-142-3p HITS-CLIP 22473208
MIRT440454 hsa-miR-155-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004445 Function Inositol-polyphosphate 5-phosphatase activity IBA
GO:0004445 Function Inositol-polyphosphate 5-phosphatase activity IDA 8006039, 8013665, 8626616
GO:0004445 Function Inositol-polyphosphate 5-phosphatase activity IEA
GO:0004445 Function Inositol-polyphosphate 5-phosphatase activity NAS 8006039
GO:0005515 Function Protein binding IPI 8999861, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600106 6076 ENSG00000068383
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14642
Protein name Inositol polyphosphate-5-phosphatase A (EC 3.1.3.56) (43 kDa inositol polyphosphate 5-phosphatase) (Type I inositol 1,4,5-trisphosphate 5-phosphatase) (5PTase)
Protein function 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:8626616, PubMed:8769125). Plays a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 15 385 Endonuclease/Exonuclease/phosphatase family Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in heart, brain, and skeletal muscle (PubMed:8006039). In brain; high level in Purkinje cells (PubMed:8013665). {ECO:0000269|PubMed:8006039, ECO:0000269|PubMed:8013665}.
Sequence
Sequence length 412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Insulin signaling pathway
  Synthesis of IP2, IP, and Ins in the cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 20876729, 31437542
★☆☆☆☆
Found in Text Mining only
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 25759212
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 24358143 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 19875416, 20876729 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 31437542 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 28653606
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 27992413
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 33132321 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34311674 Associate
★☆☆☆☆
Found in Text Mining only