Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3632
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol polyphosphate-5-phosphatase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INPP5A
Synonyms (NCBI Gene) Gene synonyms aliases
5PTASE
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 assay, Microarray, qRT-PCR, Western blot 23028679
MIRT177101 hsa-miR-142-3p HITS-CLIP 22473208
MIRT440454 hsa-miR-155-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600106 6076 ENSG00000068383
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Gout Gout N/A N/A GWAS
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33021972
Astrocytoma Associate 24358143
Calcinosis Cutis Associate 31437542
Carcinoma Squamous Cell Inhibit 19875416, 20876729
Carcinoma Squamous Cell Associate 31437542
Colitis Ulcerative Associate 33132321
Colorectal Neoplasms Associate 34311674
Drug Related Side Effects and Adverse Reactions Associate 25759212
Esophageal Squamous Cell Carcinoma Associate 36437782
Glioblastoma Associate 24358143