MINPP1
entrez
9562
canonical
uniprot
Q9UNW1
canonical
ensembl
ENSG00000107789
resolver
ensp
ENSP00000361062
resolver
ensp
ENSP00000361064
resolver
ensp
ENSP00000437823
resolver
ensp
ENSP00000789221
resolver
ensp
ENSP00000789223
resolver
genesymbol
MINPP1
resolver
genesymbol_syn
MIPP
resolver
hgnc
HGNC:7102
resolver
uniprot
F5H683
resolver
uniprot
O95172
resolver
uniprot
O95286
resolver
uniprot
Q59EJ2
resolver
uniprot
Q9UGA3
resolver
uniprot_entry
MINP1_HUMAN
resolver
uniprot_sec
F5H683
resolver
uniprot_sec
O95172
resolver
uniprot_sec
O95286
resolver
uniprot_sec
Q59EJ2
resolver
uniprot_sec
Q9UGA3
resolver
amino_acid_sequence
MLRAPGCLLRTSVAPAAALAAALLSSLARCSLLEPRDPVASSLSPYFGTKTRYEDVNPVLLSGPEAPWRDPELLEGTCTPVQLVALIRHGTRYPTVKQIRKLRQLHGLLQARGSRDGGASSTGSRDLGAALADWPLWYADWMDGQLVEKGRQDMRQLALRLASLFPALFSRENYGRLRLITSSKHRCMDSSAAFLQGLWQHYHPGLPPPDVADMEFGPPTVNDKLMRFFDHCEKFLTEVEKNATALYHVEAFKTGPEMQNILKKVAATLQVPVNDLNADLIQVAFFTCSFDLAIKGVKSPWCDVFDIDDAKVLEYLNDLKQYWKRGYGYTINSRSSCTLFQDIFQHLDKAVEQKQRSQPISSPVILQFGHAETLLPLLSLMGYFKDKEPLTAYNYKKQMHRKFRSGLIVPYASNLIFVLYHCENAKTPKEQFRVQMLLNEKVLPLAYSQETVSFYEDLKNHYKDILQSCQTSEECELARANSTSDEL
uniprot
proteins
disease_involvement
DISEASE: Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:11297621}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. {ECO:0000269|PubMed:33168985, ECO:0000269|PubMed:33257696}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.62
uniprot
proteins
ec_number
3.1.3.80
uniprot
proteins
function
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 availability of these various small molecule second messengers and metal chelators which control many aspects of cell physiology (PubMed:33257696, PubMed:36589890). Has a weak in vitro activity towards 1D-myo-inositol 1,4,5-trisphosphate which is unlikely to be physiologically relevant (PubMed:36589890). By regulating intracellular inositol polyphosphates pools, which act as metal chelators, it may control the availability of intracellular calcium and iron, which are important for proper neuronal development and homeostasis (PubMed:33257696). May have a dual substrate specificity, and function as a 2,3-bisphosphoglycerate 3-phosphatase hydrolyzing 2,3-bisphosphoglycerate to 2-phosphoglycerate. 2,3-bisphosphoglycerate (BPG) is formed as part of the Rapoport-Luebering glycolytic bypass and is a regulator of systemic oxygen homeostasis as the major allosteric effector of hemoglobin (PubMed:18413611). {ECO:0000269|PubMed:18413611, ECO:0000269|PubMed:33257696, ECO:0000269|PubMed:36589890}.
uniprot
proteins
mass_dalton
55051
uniprot
proteins
mutagenesis
MUTAGEN 89; /note="H->A: Strong reduction of 2,3-bisphosphoglycerate 3-phosphatase activity."; /evidence="ECO:0000269|PubMed:18413611"; MUTAGEN 370; /note="H->A: Greatly diminishes phosphatase activity."; /evidence="ECO:0000269|PubMed:9923613
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:33257696}.
uniprot
proteins
protein_family
Histidine acid phosphatase family
uniprot
proteins
protein_family
MINPP1 subfamily
uniprot
proteins
pubmed
10087200
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11297621
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16759730
uniprot
proteins
pubmed
18413611
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33168985
uniprot
proteins
pubmed
33257696
uniprot
proteins
pubmed
36589890
uniprot
proteins
pubmed
9923613
uniprot
proteins
sequence_length
487
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000250|UniProtKB:O35217}. Secreted {ECO:0000269|PubMed:33257696}. Cell membrane {ECO:0000250|UniProtKB:Q9Z2L6}. Note=Also associated with the plasma membrane in erythrocytes. {ECO:0000250|UniProtKB:Q9Z2L6}.
uniprot
proteins