Aliases for INPP5J Gene

Aliases for INPP5J Gene

  • Inositol Polyphosphate-5-Phosphatase J 2 3 5
  • PIPP 2 3 4
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase A 3 4
  • EC 3.1.3.56 4 51
  • PIB5PA 3 4
  • INPP5 2 3
  • Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase, A 2
  • Inositol Polyphosphate 5-Phosphatase J 4
  • EC 3.1.3 51
  • INPP5J 5

External Ids for INPP5J Gene

Previous HGNC Symbols for INPP5J Gene

  • PIB5PA

Previous GeneCards Identifiers for INPP5J Gene

  • GC22P029848
  • GC22P031518
  • GC22P014480

Summaries for INPP5J Gene

GeneCards Summary for INPP5J Gene

INPP5J (Inositol Polyphosphate-5-Phosphatase J) is a Protein Coding gene. Diseases associated with INPP5J include Lowe Oculocerebrorenal Syndrome and Exudative Vitreoretinopathy 1. Among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and inositol-1,4,5-trisphosphate 5-phosphatase activity. An important paralog of this gene is INPP5K.

UniProtKB/Swiss-Prot Summary for INPP5J Gene

  • Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity).

Gene Wiki entry for INPP5J Gene

Additional gene information for INPP5J Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INPP5J Gene

Genomics for INPP5J Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INPP5J Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INPP5J on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INPP5J

Top Transcription factor binding sites by QIAGEN in the INPP5J gene promoter:
  • ATF6
  • c-Myb
  • E47
  • FOXO1
  • FOXO1a
  • GATA-1
  • Nkx2-5
  • Pax-5
  • Tal-1beta

Genomic Locations for INPP5J Gene

Genomic Locations for INPP5J Gene
chr22:31,107,736-31,134,697
(GRCh38/hg38)
Size:
26,962 bases
Orientation:
Plus strand
chr22:31,518,717-31,530,683
(GRCh37/hg19)
Size:
11,967 bases
Orientation:
Plus strand

Genomic View for INPP5J Gene

Genes around INPP5J on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5J Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5J Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5J Gene

Proteins for INPP5J Gene

  • Protein details for INPP5J Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15735-PI5PA_HUMAN
    Recommended name:
    Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A
    Protein Accession:
    Q15735
    Secondary Accessions:
    • B3KS54
    • Q32M61
    • Q6ZTH6
    • Q8N902
    • Q9UDT9

    Protein attributes for INPP5J Gene

    Size:
    1006 amino acids
    Molecular mass:
    107197 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD15618.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for INPP5J Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5J Gene

Selected DME Specific Peptides for INPP5J Gene

Q15735:
  • KKRKPAWTDRILW
  • AIGLQEV
  • WDWIGLY
  • DYVAYVW
  • LWEKDQL

Post-translational modifications for INPP5J Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for INPP5J Gene

Gene Families for INPP5J Gene

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

Protein Domains for INPP5J Gene

InterPro:
Blocks:
  • Inositol polyphosphate related phosphatase family
ProtoNet:

Suggested Antigen Peptide Sequences for INPP5J Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59315, highly similar to Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (EC 3.1.3.56) (B4DF95_HUMAN)
  • Inositol polyphosphate 5-phosphatase J (PI5PA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15735

UniProtKB/Swiss-Prot:

PI5PA_HUMAN :
  • The 5 Arg-Ser-Xaa-Ser-Xaa-Xaa (RSXSXX) motifs may constitute binding sites for the 14-3-3 protein.
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Domain:
  • The 5 Arg-Ser-Xaa-Ser-Xaa-Xaa (RSXSXX) motifs may constitute binding sites for the 14-3-3 protein.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with INPP5J: view

Function for INPP5J Gene

Molecular function for INPP5J Gene

UniProtKB/Swiss-Prot Function:
Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56;.

Enzyme Numbers (IUBMB) for INPP5J Gene

Phenotypes From GWAS Catalog for INPP5J Gene

Gene Ontology (GO) - Molecular Function for INPP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA 21873635
GO:0004445 inositol-polyphosphate 5-phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with INPP5J: view
genes like me logo Genes that share phenotypes with INPP5J: view

Animal Models for INPP5J Gene

MGI Knock Outs for INPP5J:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5J

CRISPR Products

miRNA for INPP5J Gene

miRTarBase miRNAs that target INPP5J

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5J

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INPP5J Gene

Localization for INPP5J Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5J Gene

Cytoplasm. Note=Predominantly localized to membrane ruffles. {ECO:0000250}.

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 INPP5J gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for INPP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 12536145
GO:0005737 cytoplasm IDA 12536145
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA 21873635
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with INPP5J: view

Pathways & Interactions for INPP5J Gene

genes like me logo Genes that share pathways with INPP5J: view

Gene Ontology (GO) - Biological Process for INPP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0010977 negative regulation of neuron projection development IEA --
GO:0031115 negative regulation of microtubule polymerization IEA --
GO:0033137 negative regulation of peptidyl-serine phosphorylation IBA 21873635
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with INPP5J: view

No data available for SIGNOR curated interactions for INPP5J Gene

Drugs & Compounds for INPP5J Gene

(7) Drugs for INPP5J Gene - From: HMDB and Novoseek

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

(10) Additional Compounds for INPP5J Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inositol 1,3,4,5-tetraphosphate
  • 1,3,4,5-Tetrakis(dihydrogen phosphate) myo-inositol
  • 1D-myo-Inositol 1,3,4,5-tetrakis(dihydrogen phosphate)
  • 1D-myo-Inositol 1,3,4,5-tetrakisphosphate
  • D-myo-Inositol 1,3,4,5-tetrakisphosphate
  • Inositol 1,3,4,5-tetrakis(phosphate)
102850-29-3
Inositol 1,3,4-trisphosphate
  • (1S,3S,4S)-1,3,4-triphospho-myo-INOSITOL
  • D-myo-Inositol 1,3,4-trisphosphate
  • Inositol 1,3,4-trisphosphoric acid
  • D-myo-Inositol 1,3,4-trisphosphoric acid
  • 1,3,4-Itp
98102-63-7
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with INPP5J: view

Transcripts for INPP5J Gene

mRNA/cDNA for INPP5J Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5J

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5J Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5: - - - - -
SP6: - - -
SP7: -
SP8: - - - - -
SP9:
SP10: - - - - - -

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for INPP5J Gene

GeneLoc Exon Structure for
INPP5J

Expression for INPP5J Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INPP5J Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INPP5J Gene

This gene is overexpressed in Thyroid (x16.4), Brain - Cerebellum (x5.1), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for INPP5J Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.6), Heart (18.7), and Pancreatic juice (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INPP5J Gene



Protein tissue co-expression partners for INPP5J Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INPP5J

SOURCE GeneReport for Unigene cluster for INPP5J Gene:

Hs.517549

Evidence on tissue expression from TISSUES for INPP5J Gene

  • Nervous system(4.8)
  • Heart(4.4)
  • Spleen(4.1)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with INPP5J: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5J Gene

Orthologs for INPP5J Gene

This gene was present in the common ancestor of animals.

Orthologs for INPP5J Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INPP5J 30 31
  • 99.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INPP5J 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia INPP5J 30 31
  • 87.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Inpp5j 30
  • 82.25 (n)
Mouse
(Mus musculus)
Mammalia Inpp5j 30 17 31
  • 81.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia INPP5J 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia INPP5J 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves INPP5J 30 31
  • 71.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia INPP5J 31
  • 57 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii inpp5jb 30 31
  • 65.56 (n)
OneToMany
inpp5ja 31
  • 40 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG6805 30 31
  • 53.33 (n)
ManyToMany
CG9784 31
  • 28 (a)
ManyToMany
Species where no ortholog for INPP5J was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for INPP5J Gene

ENSEMBL:
Gene Tree for INPP5J (if available)
TreeFam:
Gene Tree for INPP5J (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INPP5J: view image

Paralogs for INPP5J Gene

(2) SIMAP similar genes for INPP5J Gene using alignment to 6 proteins:

  • PI5PA_HUMAN
  • B4DF95_HUMAN
  • B5MBZ3_HUMAN
  • B5MCL8_HUMAN
  • C9J0H5_HUMAN
  • C9K0M5_HUMAN
genes like me logo Genes that share paralogs with INPP5J: view

Variants for INPP5J Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INPP5J Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
769480 Benign: not provided 31,134,087(+) C/T MISSENSE_VARIANT
777684 Benign: not provided 31,133,156(+) G/A MISSENSE_VARIANT
rs12485025 - p.Ser333Ile

Additional dbSNP identifiers (rs#s) for INPP5J Gene

Structural Variations from Database of Genomic Variants (DGV) for INPP5J Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv829173 CNV loss 20364138

Variation tolerance for INPP5J Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP5J Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP5J

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5J Gene

Disorders for INPP5J Gene

MalaCards: The human disease database

(2) MalaCards diseases for INPP5J Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with INPP5J: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP5J Gene

Publications for INPP5J Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation. (PMID: 12536145) Gurung R … Mitchell CA (The Journal of biological chemistry 2003) 3 23
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for INPP5J Gene

Sources for INPP5J Gene