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 |
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
|
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 |
|