Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9562
Gene name	Multiple inositol-polyphosphate phosphatase 1
Gene symbol	MINPP1
Synonyms (NCBI Gene)	HIPER1MINPP2MIPPPCH16
Chromosome	10
Chromosome location	10q23.2
Summary	This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also conve

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894171	A>G	Pathogenic	Missense variant, coding sequence variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016067	hsa-miR-374b-5p	Sequencing	20371350
MIRT019569	hsa-miR-340-5p	Sequencing	20371350
MIRT023881	hsa-miR-1-3p	Proteomics	18668040
MIRT039251	hsa-miR-454-5p	CLASH	23622248
MIRT445784	hsa-miR-4670-3p	PAR-CLIP	22100165
MIRT445784	hsa-miR-4670-3p	PAR-CLIP	22100165
MIRT736086	hsa-miR-30b-5p	Luciferase reporter assayqRT-PCR	33390177
MIRT445784	hsa-miR-4670-3p	PAR-CLIP	22100165
MIRT445784	hsa-miR-4670-3p	PAR-CLIP	22100165
MIRT1149310	hsa-miR-1193	CLIP-seq
MIRT1149311	hsa-miR-1909	CLIP-seq
MIRT1149312	hsa-miR-2392	CLIP-seq
MIRT1149313	hsa-miR-30a	CLIP-seq
MIRT1149314	hsa-miR-30b	CLIP-seq
MIRT1149315	hsa-miR-30c	CLIP-seq
MIRT1149316	hsa-miR-30d	CLIP-seq
MIRT1149317	hsa-miR-30e	CLIP-seq
MIRT1149318	hsa-miR-3145-3p	CLIP-seq
MIRT1149319	hsa-miR-3607-3p	CLIP-seq
MIRT1149320	hsa-miR-3686	CLIP-seq
MIRT1149321	hsa-miR-3918	CLIP-seq
MIRT1149322	hsa-miR-410	CLIP-seq
MIRT1149323	hsa-miR-4476	CLIP-seq
MIRT1149324	hsa-miR-4477b	CLIP-seq
MIRT1149325	hsa-miR-4652-3p	CLIP-seq
MIRT1149326	hsa-miR-562	CLIP-seq
MIRT1149327	hsa-miR-579	CLIP-seq
MIRT1149310	hsa-miR-1193	CLIP-seq
MIRT1149328	hsa-miR-1270	CLIP-seq
MIRT1149312	hsa-miR-2392	CLIP-seq
MIRT1149329	hsa-miR-384	CLIP-seq
MIRT1149330	hsa-miR-4305	CLIP-seq
MIRT1149324	hsa-miR-4477b	CLIP-seq
MIRT1149331	hsa-miR-4659a-3p	CLIP-seq
MIRT1149332	hsa-miR-4659b-3p	CLIP-seq
MIRT1149333	hsa-miR-4683	CLIP-seq
MIRT1149334	hsa-miR-4705	CLIP-seq
MIRT1149335	hsa-miR-516b	CLIP-seq
MIRT1149336	hsa-miR-620	CLIP-seq
MIRT2042491	hsa-miR-548c-3p	CLIP-seq
MIRT1149311	hsa-miR-1909	CLIP-seq
MIRT1149313	hsa-miR-30a	CLIP-seq
MIRT1149314	hsa-miR-30b	CLIP-seq
MIRT1149315	hsa-miR-30c	CLIP-seq
MIRT1149316	hsa-miR-30d	CLIP-seq
MIRT1149317	hsa-miR-30e	CLIP-seq
MIRT2272094	hsa-miR-3200-5p	CLIP-seq
MIRT2272095	hsa-miR-345	CLIP-seq
MIRT1149319	hsa-miR-3607-3p	CLIP-seq
MIRT1149320	hsa-miR-3686	CLIP-seq
MIRT2272096	hsa-miR-4279	CLIP-seq
MIRT2272097	hsa-miR-4639-5p	CLIP-seq
MIRT1149325	hsa-miR-4652-3p	CLIP-seq
MIRT2272098	hsa-miR-558	CLIP-seq
MIRT1149327	hsa-miR-579	CLIP-seq
MIRT2438592	hsa-miR-140-3p	CLIP-seq
MIRT2438593	hsa-miR-338-5p	CLIP-seq
MIRT1149311	hsa-miR-1909	CLIP-seq
MIRT1149313	hsa-miR-30a	CLIP-seq
MIRT1149314	hsa-miR-30b	CLIP-seq
MIRT1149315	hsa-miR-30c	CLIP-seq
MIRT1149316	hsa-miR-30d	CLIP-seq
MIRT1149317	hsa-miR-30e	CLIP-seq
MIRT2571143	hsa-miR-3121-3p	CLIP-seq
MIRT1149319	hsa-miR-3607-3p	CLIP-seq
MIRT2571144	hsa-miR-3664-5p	CLIP-seq
MIRT2571145	hsa-miR-3671	CLIP-seq
MIRT1149320	hsa-miR-3686	CLIP-seq
MIRT1149321	hsa-miR-3918	CLIP-seq
MIRT2571146	hsa-miR-3977	CLIP-seq
MIRT2571147	hsa-miR-4276	CLIP-seq
MIRT1149323	hsa-miR-4476	CLIP-seq
MIRT2571148	hsa-miR-4640-5p	CLIP-seq
MIRT1149325	hsa-miR-4652-3p	CLIP-seq
MIRT2571149	hsa-miR-4684-5p	CLIP-seq
MIRT2571150	hsa-miR-4726-5p	CLIP-seq
MIRT2571151	hsa-miR-4768-5p	CLIP-seq
MIRT2571152	hsa-miR-4799-5p	CLIP-seq
MIRT2571153	hsa-miR-493	CLIP-seq
MIRT2042491	hsa-miR-548c-3p	CLIP-seq
MIRT2571154	hsa-miR-578	CLIP-seq
MIRT1149327	hsa-miR-579	CLIP-seq
MIRT2571155	hsa-miR-607	CLIP-seq
MIRT1149311	hsa-miR-1909	CLIP-seq
MIRT1149313	hsa-miR-30a	CLIP-seq
MIRT1149314	hsa-miR-30b	CLIP-seq
MIRT1149315	hsa-miR-30c	CLIP-seq
MIRT1149316	hsa-miR-30d	CLIP-seq
MIRT1149317	hsa-miR-30e	CLIP-seq
MIRT2571143	hsa-miR-3121-3p	CLIP-seq
MIRT1149319	hsa-miR-3607-3p	CLIP-seq
MIRT1149320	hsa-miR-3686	CLIP-seq
MIRT1149321	hsa-miR-3918	CLIP-seq
MIRT1149323	hsa-miR-4476	CLIP-seq
MIRT2571148	hsa-miR-4640-5p	CLIP-seq
MIRT1149325	hsa-miR-4652-3p	CLIP-seq
MIRT2571149	hsa-miR-4684-5p	CLIP-seq
MIRT2571150	hsa-miR-4726-5p	CLIP-seq
MIRT2571151	hsa-miR-4768-5p	CLIP-seq
MIRT2571152	hsa-miR-4799-5p	CLIP-seq
MIRT1149327	hsa-miR-579	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	NAS	9923613
GO:0003993	Function	Acid phosphatase activity	IBA
GO:0004446	Function	Inositol hexakisphosphate phosphatase activity	IDA	36589890
GO:0004446	Function	Inositol hexakisphosphate phosphatase activity	IEA
GO:0004446	Function	Inositol hexakisphosphate phosphatase activity	IMP	33257696
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IMP	33257696
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0008707	Function	Inositol hexakisphosphate 4-phosphatase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016158	Function	Inositol hexakisphosphate 3-phosphatase activity	IEA
GO:0016158	Function	Inositol hexakisphosphate 3-phosphatase activity	TAS
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IDA	36589890
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IMP	33257696
GO:0030282	Process	Bone mineralization	NAS	9923613
GO:0030351	Function	Inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity	IDA	36589890
GO:0030351	Function	Inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity	TAS
GO:0030352	Function	Inositol-1,4,5,6-tetrakisphosphate 6-phosphatase activity	IDA	36589890
GO:0034417	Function	Bisphosphoglycerate 3-phosphatase activity	IDA	18413611
GO:0034417	Function	Bisphosphoglycerate 3-phosphatase activity	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IDA	36589890
GO:0051717	Function	Inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	IDA	36589890
GO:0051717	Function	Inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	TAS
GO:0052745	Function	Inositol phosphate phosphatase activity	IBA
GO:0052745	Function	Inositol phosphate phosphatase activity	IEA
GO:0052745	Function	Inositol phosphate phosphatase activity	NAS	9923613
GO:0052827	Function	Inositol pentakisphosphate phosphatase activity	IMP	33257696
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
605391	7102	ENSG00000107789

Q9UNW1

Protein name

Multiple inositol polyphosphate phosphatase 1 (EC 3.1.3.62) (2,3-bisphosphoglycerate 3-phosphatase) (2,3-BPG phosphatase) (EC 3.1.3.80)

Protein function

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 availabil

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00328	His_Phos_2	81 → 439	Histidine phosphatase superfamily (branch 2)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in kidney, liver, cerebellum and placenta. {ECO:0000269|PubMed:33168985, ECO:0000269|PubMed:33257696, ECO:0000269|PubMed:9923613}.

Sequence

MLRAPGCLLRTSVAPAAALAAALLSSLARCSLLEPRDPVASSLSPYFGTKTRYEDVNPVL
LSGPEAPWRDPELLEGTCTPVQLVALIRHGTRYPTVKQIRKLRQLHGLLQARGSRDGGAS
STGSRDLGAALADWPLWYADWMDGQLVEKGRQDMRQLALRLASLFPALFSRENYGRLRLI
TSSKHRCMDSSAAFLQGLWQHYHPGLPPPDVADMEFGPPTVNDKLMRFFDHCEKFLTEVE
KNATALYHVEAFKTGPEMQNILKKVAATLQVPVNDLNADLIQVAFFTCSFDLAIKGVKSP
WCDVFDIDDAKVLEYLNDLKQYWKRGYGYTINSRSSCTLFQDIFQHLDKAVEQKQRSQPI
SSPVILQFGHAETLLPLLSLMGYFKDKEPLTAYNYKKQMHRKFRSGLIVPYASNLIFVLY
HCENAKTPKEQFRVQMLLNEKVLPLAYSQETVSFYEDLKNHYKDILQSCQTSEECELARA
NSTSDEL

Sequence length

487

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Inositol phosphate metabolism Metabolic pathways		Synthesis of IPs in the ER lumen

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MINPP1-related disorder	Likely pathogenic	rs1249046608	RCV003399573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia, type 16	Pathogenic; Likely pathogenic	rs1851221121, rs2131792567, rs2131793302, rs1323094107, rs1311614264, rs748636033, rs2492635186, rs2492553794	RCV001706964 RCV001706965 RCV001706966 RCV001706967 RCV001706969 RCV001785321 RCV005227779 RCV003988924 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Pathogenic	rs2131815084	RCV001731175	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 2	Pathogenic	rs119486096, rs104894171	RCV000005324 RCV000005325	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 7	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 7	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid adenoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, FOLLICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27929028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11536049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25230976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	40508022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial papillary or follicular thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11297621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1906605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11297621, 8668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	40508022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	33168985, 40508022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontocerebellar hypoplasia	Pubtator	40508022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35886008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	UNIPROT_DG	11297621		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	GENOMICS_ENGLAND_DG	11297621		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	11297621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11297621		★★★★★ ★☆☆☆☆ Found in Text Mining only

MINPP1 (multiple inositol-polyphosphate phosphatase 1)