Type | Description |
---|---|
Definition | inositol monophosphatase 1 |
Date | Results | Publications |
---|---|---|
2019-07-06 12:54:00 | Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG. The IMPA1 mutation in the cohort of the current study was associated with severe intellectual disability and disruptive behavior | 30616629 |
2019-01-19 10:09:00 | the high-resolution X-ray structure of human IMPase in complex with L690,330 and manganese ions determined at 1.39 A resolution is reported. | 30289407 |
2018-04-21 11:53:00 | Multibody magnesium cofactor and myo-inositol substrate molecular recognition in the myo-inositol monophosphatase enzyme have been described. | 27440438 |
2017-11-04 11:04:00 | The identification of a novel homozygous duplication of 5 bp in IMPA1, in a large consanguineous family with nine individuals with severe intellectual disability and disruptive behavior. | 26416544 |
2012-12-29 10:28:00 | Comparison of MmIMPase 1 and HsIMPase 1 revealed a core r.m.s. deviation of 0.516 A | 23027737 |
Type | IDs |
---|---|
Synonymous | IMP, IMPA, MRT59 |
Gene |
UniProtKB-ID:
IMPA1_HUMAN,
A0A024R830_HUMAN,
A0A140VJL8_HUMAN
UniprotKB:
P29218,
A0A024R830,
A0A140VJL8
UniParc:
UPI00017A75FC,
UPI000192950E,
UPI000002F7F8
EMBL:
X66922,
Y11362,
BC008381,
Y11365,
Y11364,
AF178754,
Y11366,
Y11361,
AK300750,
HM005407,
Y11363,
AC090255,
BC009565,
AF042729,
AK312823,
Y11360,
CH471068,
Y11367,
AK297078
Ensembl:
ENSG00000133731
KO:
hsa:3612
|
Nucleutide sequences |
EMBL-CDS:
AAH08381.1,
BAH13340.1,
AAB97468.1,
CAA72195.1,
AAD52997.1,
EAW87095.1,
BAG35680.1,
AAH09565.1,
CAA47359.1,
BAG59595.1,
EAW87100.1,
AEE61005.1
Gene_ORFName:
hCG_21302
Ensembl_TRS:
ENST00000311489,
ENST00000256108,
ENST00000449740
|
Protein sequencees |
Ensembl_PRO:
ENSP00000408526,
ENSP00000311803,
ENSP00000256108
RefSeq:
NP_001138350.1,
NP_005527.1,
NP_001138351.1
|
Others |
UniRef100:
UniRef100_P29218
UniRef90:
UniRef90_P29218
UniRef50:
UniRef50_P29218
UniGene:
Hs.656694
CCDS:
CCDS47883.1,
CCDS6231.1,
CCDS47884.1
|
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