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3612 IMPA1

3612

IMPA1

inositol monophosphatase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition inositol monophosphatase 1

研究结论

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

名称对应

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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