IMPA1
entrez
3612
canonical
uniprot
P29218
canonical
ensembl
ENSG00000133731
resolver
ensp
ENSP00000256108
resolver
ensp
ENSP00000311803
resolver
ensp
ENSP00000408526
resolver
genesymbol
IMPA1
resolver
genesymbol_syn
IMPA
resolver
hgnc
HGNC:6050
resolver
uniprot
A0A140VJL8
resolver
uniprot
B2R733
resolver
uniprot
B4DLN3
resolver
uniprot
B7Z6Q4
resolver
uniprot
J3KQT7
resolver
uniprot
Q9UK71
resolver
uniprot_entry
A0A140VJL8_HUMAN
resolver
uniprot_entry
IMPA1_HUMAN
resolver
uniprot_sec
B2R733
resolver
uniprot_sec
B4DLN3
resolver
uniprot_sec
B7Z6Q4
resolver
uniprot_sec
J3KQT7
resolver
uniprot_sec
Q9UK71
resolver
activity_regulation
ACTIVITY REGULATION: Activity with myo-inositol monophosphates and D-galactose 1-phosphate is inhibited by Li(+), Ca(2+) and Mn(2+), but also by Mg(2+) at concentrations above 3 mM. {ECO:0000269|PubMed:17068342, ECO:0000269|PubMed:8718889, ECO:0000269|PubMed:9462881}.
uniprot
proteins
amino_acid_sequence
MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKEKYPSHSFIGEESVAAGEKSILTDNPTWIIDPIDGTTNFVHRFPFVAVSIGFAVNKKIEFGVVYSCVEGKMYTARKGKGAFCNGQKLQVSQQEDITKSLLVTELGSSRTPETVRMVLSNMEKLFCIPVHGIRSVGTAAVNMCLVATGGADAYYEMGIHCWDVAGAGIIVTEAGGVLMDVTGGPFDLMSRRVIAANNRILAERIAKEIQVIPLQRDDED
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 59 (MRT59) [MIM:617323]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:26416544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.25
uniprot
proteins
ec_number
3.1.3.94
uniprot
proteins
function
FUNCTION: Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol (PubMed:17068342, PubMed:8718889, PubMed:9462881). Is also able to dephosphorylate scyllo-inositol-phosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-1,3-diphosphate and scyllo-inositol-1,4-diphosphate (PubMed:17068342). Also dephosphorylates in vitro other sugar-phosphates including D-galactose-1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate and 2'-AMP (PubMed:17068342, PubMed:8718889, PubMed:9462881). Responsible for the provision of inositol required for synthesis of phosphatidylinositols and polyphosphoinositides, and involved in maintaining normal brain function (PubMed:26416544, PubMed:8718889). Has been implicated as the pharmacological target for lithium (Li(+)) action in brain, which is used to treat bipolar affective disorder (PubMed:17068342). Is equally active with 1D-myo-inositol 1-phosphate, 1D-myo-inositol 3-phosphate and D-galactose 1-phosphate (PubMed:9462881). {ECO:0000269|PubMed:17068342, ECO:0000269|PubMed:26416544, ECO:0000269|PubMed:8718889, ECO:0000269|PubMed:9462881}.
uniprot
proteins
mass_dalton
30189
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="K->Q: 50-fold reduction in activity."; /evidence="ECO:0000269|PubMed:8718889"; MUTAGEN 93; /note="D->N: Loss of activity."; /evidence="ECO:0000269|PubMed:17068342"; MUTAGEN 165; /note="S->A,I: Reduced enzyme activity with myo-inositol 1-phosphate."; /evidence="ECO:0000269|PubMed:8068620"; MUTAGEN 213; /note="E->Q: Strongly reduced affinity for myo-inositol 1-phosphate and strongly reduced enzyme activity with myo-inositol 1-phosphate."; /evidence="ECO:0000269|PubMed:8068620
uniprot
proteins
pathway_participation
PATHWAY: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.
uniprot
proteins
protein_family
Inositol monophosphatase superfamily
uniprot
proteins
pubmed
1332026
uniprot
proteins
pubmed
1377913
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17068342
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23027737
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26416544
uniprot
proteins
pubmed
8068620
uniprot
proteins
pubmed
8068621
uniprot
proteins
pubmed
8718889
uniprot
proteins
pubmed
9339367
uniprot
proteins
pubmed
9462881
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17068342}.
uniprot
proteins