IMPA1 (inositol monophosphatase 1)

2003-05-01  

Identity

HGNC
LOCATION
8q21.13
LOCUSID
ALIAS
IMP,IMPA,MRT59
FUSION GENES

Other Information

Locus ID:

NCBI: 3612
MIM: 602064
HGNC: 6050
Ensembl: ENSG00000133731

Variants:

dbSNP: 3612
ClinVar: 3612
TCGA: ENSG00000133731
COSMIC: IMPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133731ENST00000256108P29218
ENSG00000133731ENST00000256108A0A024R830
ENSG00000133731ENST00000311489P29218
ENSG00000133731ENST00000449740P29218
ENSG00000133731ENST00000449740A0A140VJL8
ENSG00000133731ENST00000518188E5RG94
ENSG00000133731ENST00000518202E5RI82
ENSG00000133731ENST00000519816E5RHE9
ENSG00000133731ENST00000519964E5RIP7
ENSG00000133731ENST00000521360E5RG13
ENSG00000133731ENST00000521979E5RIF4
ENSG00000133731ENST00000522997E5RGY4
ENSG00000133731ENST00000523942H0YBL1

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositolKEGGhsa_M00131
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositolKEGGM00131
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP2, IP, and Ins in the cytosolREACTOMER-HSA-1855183

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170683422007Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1.20
146994252004Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder.19
201533842010Behavioral analyses of transgenic mice harboring bipolar disorder candidate genes, IMPA1 and IMPA2.6
230277372012Cloning, expression, purification, crystallization and X-ray analysis of inositol monophosphatase from Mus musculus and Homo sapiens.5
264165442016A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.3
274404382016Multibody cofactor and substrate molecular recognition in the myo-inositol monophosphatase enzyme.3
302894072018Co-crystallization of human inositol monophosphatase with the lithium mimetic L-690,330.0
306166292019Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.0

Citation

Dessen P

IMPA1 (inositol monophosphatase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40971/impa1