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

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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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MINPP1-related disorder	Likely pathogenic	rs1249046608	RCV003399573
Pontocerebellar hypoplasia, type 16	Pathogenic; Likely pathogenic	rs1851221121, rs2131792567, rs2131793302, rs1323094107, rs1311614264, rs748636033, rs2492635186, rs2492553794	RCV001706964 RCV001706965 RCV001706966 RCV001706967 RCV001706969 RCV001785321 RCV005227779 RCV003988924
Pontoneocerebellar hypoplasia	Pathogenic	rs2131815084	RCV001731175
Thyroid cancer, nonmedullary, 2	Pathogenic	rs119486096, rs104894171	RCV000005324 RCV000005325

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Thyroid adenoma	Benign	rs41299159	RCV001822968

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	27929028
Carcinoma Renal Cell	Associate	25230976
Developmental Disabilities	Associate	40508022
Neoplasms	Associate	27929028, 33225619
Neurodegenerative Diseases	Associate	40508022
Pontocerebellar Hypoplasia	Associate	33168985, 40508022
Pontocerebellar Hypoplasia Type 2	Associate	40508022
Squamous Cell Carcinoma of Head and Neck	Associate	35886008

MINPP1 (multiple inositol-polyphosphate phosphatase 1)