Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9562
Gene name Gene Name - the full gene name approved by the HGNC.
Multiple inositol-polyphosphate phosphatase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MINPP1
Synonyms (NCBI Gene) Gene synonyms aliases
HIPER1, MINPP2, MIPP, PCH16
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PCH16
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also conve
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894171 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016067 hsa-miR-374b-5p Sequencing 20371350
MIRT019569 hsa-miR-340-5p Sequencing 20371350
MIRT023881 hsa-miR-1-3p Proteomics 18668040
MIRT039251 hsa-miR-454-5p CLASH 23622248
MIRT445784 hsa-miR-4670-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification NAS 9923613
GO:0003993 Function Acid phosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum TAS 10087200
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605391 7102 ENSG00000107789
Protein
UniProt ID Q9UNW1
Protein name Multiple inositol polyphosphate phosphatase 1 (EC 3.1.3.62) (2,3-bisphosphoglycerate 3-phosphatase) (2,3-BPG phosphatase) (EC 3.1.3.80)
Protein function Multiple inositol polyphosphate phosphatase that hydrolyzes 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inositol phosphates. This regulates the availabil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00328 His_Phos_2 81 439 Histidine phosphatase superfamily (branch 2) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in kidney, liver, cerebellum and placenta. {ECO:0000269|PubMed:33168985, ECO:0000269|PubMed:33257696, ECO:0000269|PubMed:9923613}.
Sequence
Sequence length 487
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Inositol phosphate metabolism
Metabolic pathways
  Synthesis of IPs in the ER lumen
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724
Papillary thyroid carcinoma Papillary thyroid carcinoma rs751409106
Thyroid cancer Thyroid cancer, follicular, THYROID CANCER, NONMEDULLARY, 2 rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342 11297621
Unknown
Disease term Disease name Evidence References Source
Cerebellar Hypoplasia pontocerebellar hypoplasia, type 16 GenCC
Pontoneocerebellar hypoplasia pontocerebellar hypoplasia type 7 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 27929028
Carcinoma Renal Cell Associate 25230976
Developmental Disabilities Associate 40508022
Neoplasms Associate 27929028, 33225619
Neurodegenerative Diseases Associate 40508022
Pontocerebellar Hypoplasia Associate 33168985, 40508022
Pontocerebellar Hypoplasia Type 2 Associate 40508022
Squamous Cell Carcinoma of Head and Neck Associate 35886008