INPP5B - inositol polyphosphate-5-phosphatase B Gene

Also Known as 5PTase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3633

About INPP5B

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,860,697-37,947,057 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and 13 paralogues. Ubiquitous expression in lymph node (RPKM 6.6), ovary (RPKM 6.5) and 25 other tissues.

Summary

This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These Enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]

INPP5B Products (10)

mRNA	Protein	Name
NM_001297434.2	NP_001284363.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 2 precursor
NM_001350227.2	NP_001337156.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 3
NM_001350228.1	NP_001337157.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 3
NM_001365820.1	NP_001352749.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 1 precursor
NM_001365821.1	NP_001352750.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 4 precursor
NM_001365822.1	NP_001352751.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 5
NM_001365823.1	NP_001352752.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 6
NM_001365824.1	NP_001352753.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 6
NM_001365825.1	NP_001352754.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 7
NM_005540.3	NP_005531.2	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables inositol-1,4,5-trisphosphate 5-phosphatase activity	IDA IDA: Inferred from direct assay	7721860	GOA
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA IDA: Inferred from direct assay	7721860	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21233288	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	7721860	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	7721860	GOA
located in membrane	IDA IDA: Inferred from direct assay	7721860	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

INPP5B Protein Structure

Exo_endo_phos

RhoGAP

0
200
400
600
800
993 a.a.

Protein Preferred Names	Protein Names
type II inositol 1,4,5-trisphosphate 5-phosphatase	inositol polyphosphate-5-phosphatase, 75kDa

Related Diseases

Diseases	Alias
Dent Disease 2	Dent Disease Type 2 DENT2 Dent Disease, Type 2
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
Amyotrophic Lateral Sclerosis 11	Amyotrophic Lateral Sclerosis Type 11 ALS11 Sclerosis, Lateral, Amyotrophic, Type Type 11
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120354	YU142670	Inhibitor	99.50%	Unkown
HY-RS06828	INPP5B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	INPP5B	RGD	RGD:1311511
Canis familiaris	INPP5B	VGNC	VGNC:42031
Bos taurus	INPP5B	VGNC	VGNC:30211
Macaca mulatta	INPP5B	VGNC	VGNC:73750
Felis catus	INPP5B	VGNC	VGNC:67808
Mus musculus	INPP5B	MGD	MGI:103257
Others	INPP5B	NCBI