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Aliases for INPP5J Gene

Aliases for INPP5J Gene

  • Inositol Polyphosphate-5-Phosphatase J 2 3 5
  • EC 3.1.3.56 4 58
  • PIB5PA 3 4
  • PIPP 3 4
  • Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase, A 2
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase A 3
  • Inositol Polyphosphate 5-Phosphatase J 4
  • EC 3.1.3 58
  • INPP5 3

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 Syndrome and Exudative Vitreoretinopathy 1. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). 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 SYNJ2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for INPP5J Gene

Genomics for INPP5J Gene

Regulatory Elements for INPP5J Gene

Enhancers for INPP5J Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H031077 1.6 Ensembl ENCODE dbSUPER 18 -24.8 -24839 10.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TUG1 MORC2 SELENOM SMTN SF3A1 INPP5J TBC1D10A PRR14L PES1 DEPDC5
GH22H031226 2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +122.7 122673 7.3 HDGF ATF1 FOXA2 MLX ARNT ARID4B YY1 TCF12 ZNF121 ZNF766 LIMK2 RNF185 SFI1 SELENOM INPP5J LINC01521 PATZ1 PIK3IP1 SMTN GC22M031231
GH22H031052 1.3 Ensembl ENCODE 14.7 -52.8 -52781 4.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ENSG00000223831 SELENOM MORC2-AS1 INPP5J ENSG00000214125 ENSG00000227813 RN7SL305P LOC105372988 LINC02558 RPS3AP51
GH22H031043 1.4 FANTOM5 Ensembl ENCODE 10.6 -62.0 -62000 3.9 ZNF133 RAD21 SP5 NR2F2 KAT8 ZFP69B NFIC PRDM6 KLF16 KDM1A SELENOM MORC2 TUG1 INPP5J RNU6-1128P SFI1 ENSG00000278920 ENSG00000269987
GH22H031234 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +127.6 127646 1.6 ETV1 MAX NR2F2 LIMK2 RNF185 INPP5J SELENOM PATZ1 LINC01521 SFI1 SMTN ENSG00000202019 GC22M031231
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INPP5J on UCSC Golden Path with GeneCards custom track

Promoters for INPP5J Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145315 -336 1601 PKNOX1 ATF1 ARNT ARID4B YY1 GLIS2 ZNF143 KLF7 ATF7 DEK

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)

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

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 CatalyticActivity:
D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
1D-myo-inositol 1,3,4,5-tetrakisphosphate + H(2)O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate.
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).

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 TAS --
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

miRNA for INPP5J Gene

miRTarBase miRNAs that target INPP5J

Clone Products

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 3
nucleus 3
mitochondrion 1
peroxisome 1

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 IEA --
GO:0030426 growth cone 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 IEA --
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: HMDB and Novoseek

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
  • 1,3,4-Itp
  • 1D-Myo-Inositol 1,3,4-trisphosphate
  • D-Myo-Inositol 1,3,4-trisphosphate
  • I3S
  • Inositol 1,3,4-triphosphate
98102-63-7
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with INPP5J: view

Transcripts for INPP5J Gene

Unigene Clusters for INPP5J Gene

Inositol polyphosphate-5-phosphatase J:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
INPP5J

Expression for INPP5J Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for INPP5J Gene



Protein tissue co-expression partners for INPP5J Gene

NURSA nuclear receptor signaling pathways regulating expression of INPP5J Gene:

INPP5J

SOURCE GeneReport for Unigene cluster for INPP5J Gene:

Hs.517549

Evidence on tissue expression from TISSUES for INPP5J Gene

  • Nervous system(4.7)
  • Heart(4.3)
  • Spleen(4.1)
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 33 34
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia INPP5J 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INPP5J 33 34
  • 87.52 (n)
rat
(Rattus norvegicus)
Mammalia Inpp5j 33
  • 82.25 (n)
mouse
(Mus musculus)
Mammalia Inpp5j 33 16 34
  • 81.39 (n)
oppossum
(Monodelphis domestica)
Mammalia INPP5J 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5J 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves INPP5J 33 34
  • 71.53 (n)
lizard
(Anolis carolinensis)
Reptilia INPP5J 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii inpp5jb 33 34
  • 65.56 (n)
inpp5ja 34
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6805 33 34
  • 53.33 (n)
CG9784 34
  • 28 (a)
ManyToMany
Species where no ortholog for INPP5J 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Paralogs for INPP5J Gene

Paralogs for INPP5J Gene

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

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

Variants for INPP5J Gene

Sequence variations from dbSNP and Humsavar for INPP5J Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000099353 -- 31,117,433(+) AAGGC(A/G)TGTGG intron-variant
rs1000329869 -- 31,106,739(+) CACCC(G/T)TTTGT intron-variant, upstream-variant-2KB
rs1000526298 -- 31,112,824(+) GATTG(A/G)TGCAT intron-variant
rs1000907575 -- 31,117,980(+) CCCCA(C/T)TATTT intron-variant
rs1000910195 -- 31,111,338(+) GCGGA(A/G)GTTGC intron-variant

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

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

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)

Relevant External Links 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

Disorder Aliases PubMed IDs
lowe syndrome
  • oculocerebrorenal syndrome
exudative vitreoretinopathy 1
  • retinopathy of prematurity
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for INPP5J

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INPP5J
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  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 22 60
  5. MiR-661 contributed to cell proliferation of human ovarian cancer cells by repressing INPP5J expression. (PMID: 26282217) Zhu T … Li H (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2015) 3 60

Products for INPP5J Gene

Sources for INPP5J Gene

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