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Aliases for INPP5B Gene

Aliases for INPP5B Gene

  • Inositol Polyphosphate-5-Phosphatase B 2 3 5
  • Type II Inositol 1,4,5-Trisphosphate 5-Phosphatase 2 3
  • Inositol Polyphosphate-5-Phosphatase, 75kDa 2 3
  • Phosphoinositide 5-Phosphatase 3 4
  • EC 3.1.3.36 4 56
  • 5PTASE 3 4
  • 75 KDa Inositol Polyphosphate-5-Phosphatase 4
  • Inositol Polyphosphate-5-Phosphatase, 75kD 2
  • EC 3.1.3 56
  • OCRL2 4

External Ids for INPP5B Gene

Previous GeneCards Identifiers for INPP5B Gene

  • GC01M038162
  • GC01M037382
  • GC01M037754
  • GC01M037809
  • GC01M037807
  • GC01M037996
  • GC01M038326
  • GC01M036444

Summaries for INPP5B Gene

Entrez Gene Summary for INPP5B Gene

  • 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]

GeneCards Summary for INPP5B Gene

INPP5B (Inositol Polyphosphate-5-Phosphatase B) is a Protein Coding gene. Diseases associated with INPP5B include Lowe Oculocerebrorenal Syndrome and Dent Disease 1. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and inositol-1,4,5-trisphosphate 5-phosphatase activity. An important paralog of this gene is OCRL.

UniProtKB/Swiss-Prot for INPP5B Gene

  • Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.

Gene Wiki entry for INPP5B Gene

Additional gene information for INPP5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INPP5B Gene

Genomics for INPP5B Gene

GeneHancer (GH) Regulatory Elements for INPP5B Gene

Promoters and enhancers for INPP5B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I037944 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.9 +0.5 498 3.2 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF766 INPP5B FHL3 SF3A3 MYCBP GNL2 LOC105378651
GH01I037930 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.4 +15.4 15369 3.2 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A YY1 TCF12 GLIS2 E2F8 LOC105378651 INPP5B SF3A3 SNIP1 C1orf109 GNL2 FHL3 UTP11 RNU6-584P
GH01I038008 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 47.9 -65.8 -65826 9.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC UTP11 SF3A3 INPP5B SNIP1 C1orf109 RNU6-510P FTH1P1 RSPO1 ENSG00000230955 MTF1
GH01I037988 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 46.4 -42.7 -42703 2.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SF3A3 GC01P037993 RNU6-510P C1orf109 FTH1P1 INPP5B GNL2 MYCBP FHL3 RSPO1
GH01I037806 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 34.2 +138.9 138942 3.5 HNRNPUL1 PKNOX1 SMAD1 ATF1 ARNT ARID4B SIN3A DMAP1 BRCA1 ZNF48 C1orf122 YRDC INPP5B SF3A3 SNIP1 GNL2 FTH1P1 FHL3 GC01M037824 MTF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around INPP5B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INPP5B gene promoter:

Genomic Locations for INPP5B Gene

Genomic Locations for INPP5B Gene
chr1:37,860,697-37,947,084
(GRCh38/hg38)
Size:
86,388 bases
Orientation:
Minus strand
chr1:38,326,369-38,412,729
(GRCh37/hg19)

Genomic View for INPP5B Gene

Genes around INPP5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5B Gene

Proteins for INPP5B Gene

  • Protein details for INPP5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32019-I5P2_HUMAN
    Recommended name:
    Type II inositol 1,4,5-trisphosphate 5-phosphatase
    Protein Accession:
    P32019
    Secondary Accessions:
    • C9J6U5
    • Q5VSG9
    • Q5VSH0
    • Q5VSH1
    • Q658Q5
    • Q6P6D4
    • Q6PD53
    • Q86YE1

    Protein attributes for INPP5B Gene

    Size:
    993 amino acids
    Molecular mass:
    112852 Da
    Quaternary structure:
    • Interacts with APPL1, FAM109A and FAM109B. Interacts with several Rab GTPases, at least RAB1A, RAB2A, RAB5A, RAB6A, RAB8A, RAB9A and RAB33B; these interactions may play a dual role in targeting INPP5B to the specific membranes and stimulating the phosphatase activity. Interacts with INPP5F (PubMed:25869668).
    SequenceCaution:
    • Sequence=AAA79207.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPP5B Gene

    Alternative splice isoforms for INPP5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5B Gene

Selected DME Specific Peptides for INPP5B Gene

P32019:
  • WLGDLNYR
  • DTSEKCR

Post-translational modifications for INPP5B Gene

  • Isoprenylation at Cys-990 may be required for localization at the membrane.
  • May be proteolytically cleaved after Lys-320 as inferred from N-terminal protein sequence of the 75 kda form.
  • Ubiquitination at posLast=312312 and isoforms=2, 3, 4404
  • Modification sites at PhosphoSitePlus

Domains & Families for INPP5B Gene

Gene Families for INPP5B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for INPP5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P32019

UniProtKB/Swiss-Prot:

I5P2_HUMAN :
  • The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature, all three interactions rely on F&H motifs, an approximately 12-13 amino-acid sequence centered around Phe and His residues essential for binding (By similarity).
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Domain:
  • The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature, all three interactions rely on F&H motifs, an approximately 12-13 amino-acid sequence centered around Phe and His residues essential for binding (By similarity).
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with INPP5B: view

Function for INPP5B Gene

Molecular function for INPP5B Gene

GENATLAS Biochemistry:
inositol 1,4,5-triphosphate 5-phosphatase (75kDa),expressed in megakaryocytes,placenta,signal terminating reaction in the inositol signaling pathway
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.

Enzyme Numbers (IUBMB) for INPP5B Gene

Phenotypes From GWAS Catalog for INPP5B Gene

Gene Ontology (GO) - Molecular Function for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA,IDA 7721860
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 21233288
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with INPP5B: view
genes like me logo Genes that share phenotypes with INPP5B: view

Animal Models for INPP5B Gene

MGI Knock Outs for INPP5B:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5B

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INPP5B Gene

Localization for INPP5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5B Gene

Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Early endosome membrane. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, phagosome membrane. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INPP5B gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
endosome 4
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with INPP5B: view

Pathways & Interactions for INPP5B Gene

genes like me logo Genes that share pathways with INPP5B: view

Gene Ontology (GO) - Biological Process for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007165 signal transduction IEA --
GO:0007283 spermatogenesis IEA --
GO:0030317 flagellated sperm motility IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with INPP5B: view

No data available for SIGNOR curated interactions for INPP5B Gene

Drugs & Compounds for INPP5B Gene

(4) Drugs for INPP5B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
D-Myo-Inositol-1,4-Bisphosphate Experimental Pharma Target 0

(2) Additional Compounds for INPP5B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with INPP5B: view

Transcripts for INPP5B Gene

Unigene Clusters for INPP5B Gene

Inositol polyphosphate-5-phosphatase, 75kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5B Gene

No ASD Table

Relevant External Links for INPP5B Gene

GeneLoc Exon Structure for
INPP5B
ECgene alternative splicing isoforms for
INPP5B

Expression for INPP5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INPP5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPP5B Gene

This gene is overexpressed in Lymph node (28.9) and Peripheral blood mononuclear cells (25.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for INPP5B Gene



Protein tissue co-expression partners for INPP5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of INPP5B Gene:

INPP5B

SOURCE GeneReport for Unigene cluster for INPP5B Gene:

Hs.449942

mRNA Expression by UniProt/SwissProt for INPP5B Gene:

P32019-I5P2_HUMAN
Tissue specificity: Platelets.

Evidence on tissue expression from TISSUES for INPP5B Gene

  • Stomach(4.2)
genes like me logo Genes that share expression patterns with INPP5B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5B Gene

Orthologs for INPP5B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for INPP5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INPP5B 33 34
  • 98.42 (n)
dog
(Canis familiaris)
Mammalia INPP5B 33 34
  • 89.52 (n)
cow
(Bos Taurus)
Mammalia INPP5B 33 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Inpp5b 33
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Inpp5b 33 16 34
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia INPP5B 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5B 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves INPP5B 33 34
  • 73.48 (n)
lizard
(Anolis carolinensis)
Reptilia INPP5B 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497120 33
  • 68.05 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563543 33
  • 62.25 (n)
inpp5b 34
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ocrl 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ocrl-1 33 34
  • 43.64 (n)
rice
(Oryza sativa)
Liliopsida Os08g0425500 33
  • 49.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
Species where no ortholog for INPP5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INPP5B Gene

ENSEMBL:
Gene Tree for INPP5B (if available)
TreeFam:
Gene Tree for INPP5B (if available)

Paralogs for INPP5B Gene

Paralogs for INPP5B Gene

(1) SIMAP similar genes for INPP5B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with INPP5B: view

Variants for INPP5B Gene

Sequence variations from dbSNP and Humsavar for INPP5B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000021776 -- 37,883,885(-) C/T intron_variant
rs1000027966 -- 37,904,104(-) A/G intron_variant
rs1000097446 -- 37,883,683(-) G/A intron_variant
rs1000123130 -- 37,928,164(-) A/T intron_variant
rs1000167692 -- 37,864,937(-) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for INPP5B Gene

Variant ID Type Subtype PubMed ID
esv1640356 CNV deletion 17803354
esv2747275 CNV deletion 23290073
esv3560948 CNV deletion 23714750
nsv1008462 CNV gain 25217958
nsv1145335 CNV deletion 24896259
nsv472321 CNV novel sequence insertion 20440878
nsv510 CNV insertion 18451855

Variation tolerance for INPP5B Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.56; 91.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP5B Gene

Human Gene Mutation Database (HGMD)
INPP5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5B Gene

Disorders for INPP5B Gene

MalaCards: The human disease database

(3) MalaCards diseases for INPP5B Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
lowe oculocerebrorenal syndrome
  • ocrl
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
x-linked disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for INPP5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with INPP5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP5B Gene

Publications for INPP5B Gene

  1. Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase. (PMID: 1718960) Ross TS … Majerus PW (The Journal of biological chemistry 1991) 2 3 4 58
  2. Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway. (PMID: 25869668) Nakatsu F … De Camilli P (The Journal of cell biology 2015) 3 4 58
  3. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes CJ … Lowe M (Molecular biology of the cell 2011) 3 4 58
  4. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PMID: 20808825) Chen X … Kong X (PloS one 2010) 3 44 58
  5. Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. (PMID: 19700499) Coon BG … Aguilar RC (Human molecular genetics 2009) 3 22 58

Products for INPP5B Gene

Sources for INPP5B Gene

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