MINPP1

Chr 10q23.2

multiple inositol-polyphosphate phosphatase 1

Aliases:: MIPP
MANE:: ENST00000371996.9

OMIM: 605391 ↗NCBI: 9562 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MINPP1 · Q9UNW1

v62025-08-01

Predicted Aligned Error matrix for MINPP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.5/ 100

Confident

487 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)7%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Inherited non-medullary thyroid cancer
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

pontocerebellar hypoplasia, type 16
0.76
pontocerebellar hypoplasia
0.66
thyroid gland follicular carcinoma
0.56
thyroid cancer, nonmedullary, 2
0.47
neurodegenerative disease
0.42
pontocerebellar hypoplasia type 7
0.37
Non-syndromic pontocerebellar hypoplasia
0.34
Thyroid adenoma
0.33
cutaneous melanoma
0.25
urolithiasis
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Multiple inositol polyphosphate phosphatase 1

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)