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    INPP5J inositol polyphosphate-5-phosphatase J [ Homo sapiens (human) ]

    Gene ID: 27124, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INPP5Jprovided by HGNC
    Official Full Name
    inositol polyphosphate-5-phosphatase Jprovided by HGNC
    Primary source
    HGNC:HGNC:8956
    See related
    Ensembl:ENSG00000185133 MIM:606481; AllianceGenome:HGNC:8956
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIPP; INPP5; PIB5PA
    Summary
    Predicted to enable phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Predicted to act upstream of or within negative regulation of neuron projection development and negative regulation of peptidyl-serine phosphorylation. Located in cytoplasm and ruffle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 63.8), small intestine (RPKM 7.6) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INPP5J in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31122614..31134697)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31571393..31598201)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31518600..31530683)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372995 Neighboring gene uncharacterized LOC124905100 Neighboring gene ribosomal protein S15a pseudogene 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31533780-31534280 Neighboring gene phospholipase A2 group III Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31535998-31536556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31536557-31537116 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:31543860-31544038 Neighboring gene Sharpr-MPRA regulatory region 9733 Neighboring gene SNRPN pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma. Ye Y, et al. Nat Commun, 2013. PMID 23443536, Free PMC Article
    2. MiR-661 contributed to cell proliferation of human ovarian cancer cells by repressing INPP5J expression. Zhu T, et al. Biomed Pharmacother, 2015 Oct. PMID 26282217
    3. miR-508 sustains phosphoinositide signalling and promotes aggressive phenotype of oesophageal squamous cell carcinoma. Lin C, et al. Nat Commun, 2014 Aug 6. PMID 25099196
    4. Novel inositol polyphosphate 5-phosphatase localizes at membrane ruffles. Mochizuki Y, et al. J Biol Chem, 1999 Dec 17. PMID 10593988
    5. A novel isoform of the smooth muscle cell differentiation marker smoothelin. Krämer J, et al. J Mol Med (Berl), 1999 Feb. PMID 10023782

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Suggest miR-661 functions as a tumor promoter by targeting the INPP5J gene, and then promoting cell proliferation of ovarian cancer cells.
      Title: MiR-661 contributed to cell proliferation of human ovarian cancer cells by repressing INPP5J expression.
    2. Findings indicate inositol polyphosphate 5-phosphatase PIPP (INPP5J) as a suppressor of oncogenic phosphoinositide 3-kinase (PI3K)/AKT signaling in breast cancer.
      Title: The Inositol Polyphosphate 5-Phosphatase PIPP Regulates AKT1-Dependent Breast Cancer Growth and Metastasis.
    3. miR-508 has a role in sustaining phosphoinositide signalling and promotes aggressive phenotype of oesophageal squamous cell carcinoma by suppressing INPP5J
      Title: miR-508 sustains phosphoinositide signalling and promotes aggressive phenotype of oesophageal squamous cell carcinoma.
    4. these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma.
      Title: PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129984

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol trisphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-1,4,5-trisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of microtubule polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ruffle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylinositol 4,5-bisphosphate 5-phosphatase A
    Names
    phosphatidylinositol 1,3,4,5-tetrakisphosphate 5-phosphatase
    phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase
    NP_001002837.1
    NP_001271214.1
    NP_001271215.1
    NP_001271216.1
    NP_001271217.1
    NP_001271218.1
    NP_001410401.1
    NP_001410402.1
    NP_001410403.1
    NP_001410404.1
    NP_001410405.1
    NP_001410406.1
    NP_001410407.1
    NP_001410408.1
    NP_001410409.1
    NP_001410410.1
    NP_001410411.1
    NP_001410412.1
    XP_054181518.1
    XP_054181519.1
    XP_054181520.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002837.3 → NP_001002837.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform c

      See identical proteins and their annotated locations for NP_001002837.1

      Status: VALIDATED

      Source sequence(s)
      AC005005
      Consensus CDS
      CCDS46687.1
      UniProtKB/Swiss-Prot
      Q15735
      Related
      ENSP00000384534.3, ENST00000404390.7
      Conserved Domains (1) summary
      cd09094
      Location:56 → 362
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    2. NM_001284285.2 → NP_001271214.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform a

      See identical proteins and their annotated locations for NP_001271214.1

      Status: VALIDATED

      Source sequence(s)
      AC005005, AK092859, AK293992, AW014134
      Consensus CDS
      CCDS63453.1
      UniProtKB/Swiss-Prot
      B3KS54, Q15735, Q32M61, Q6ZTH6, Q8N902, Q9UDT9
      Related
      ENSP00000333262.5, ENST00000331075.10
      Conserved Domains (1) summary
      cd09094
      Location:423 → 730
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    3. NM_001284286.2 → NP_001271215.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform b

      See identical proteins and their annotated locations for NP_001271215.1

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B4DF95
      Conserved Domains (1) summary
      cd09094
      Location:356 → 663
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    4. NM_001284287.2 → NP_001271216.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform d

      Status: VALIDATED

      Source sequence(s)
      AC005005
      Conserved Domains (1) summary
      cd09094
      Location:1 → 295
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    5. NM_001284288.2 → NP_001271217.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform e

      See identical proteins and their annotated locations for NP_001271217.1

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/Swiss-Prot
      Q15735
      Conserved Domains (1) summary
      cd09094
      Location:56 → 363
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    6. NM_001284289.2 → NP_001271218.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform e

      See identical proteins and their annotated locations for NP_001271218.1

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/Swiss-Prot
      Q15735
      Conserved Domains (1) summary
      cd09094
      Location:56 → 363
      INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

    7. NM_001423472.1 → NP_001410401.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform a

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/Swiss-Prot
      B3KS54, Q15735, Q32M61, Q6ZTH6, Q8N902, Q9UDT9

    8. NM_001423473.1 → NP_001410402.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform a

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/Swiss-Prot
      B3KS54, Q15735, Q32M61, Q6ZTH6, Q8N902, Q9UDT9

    9. NM_001423474.1 → NP_001410403.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform f

      Status: VALIDATED

      Source sequence(s)
      AC005005

    10. NM_001423475.1 → NP_001410404.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B4DF95

    11. NM_001423476.1 → NP_001410405.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B4DF95

    12. NM_001423477.1 → NP_001410406.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform g

      Status: VALIDATED

      Source sequence(s)
      AC005005

    13. NM_001423478.1 → NP_001410407.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform e

      Status: VALIDATED

      Source sequence(s)
      AC005005

    14. NM_001423479.1 → NP_001410408.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform h

      Status: VALIDATED

      Source sequence(s)
      AC005005

    15. NM_001423480.1 → NP_001410409.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform i

      Status: VALIDATED

      Source sequence(s)
      AC005005

    16. NM_001423481.1 → NP_001410410.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform d

      Status: VALIDATED

      Source sequence(s)
      AC005005

    17. NM_001423482.1 → NP_001410411.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform j

      Status: VALIDATED

      Source sequence(s)
      AC005005

    18. NM_001423483.1 → NP_001410412.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform k

      Status: VALIDATED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B5MBZ3, B5MCL8
      Related
      ENSP00000385264.1, ENST00000402238.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31122614..31134697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31571393..31598201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325543.1 → XP_054181518.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform X2

    2. XM_054325545.1 → XP_054181520.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform X1

    3. XM_054325544.1 → XP_054181519.1  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014422.2: Suppressed sequence

      Description
      NM_014422.2: This RefSeq was permanently suppressed because it has an additional exon that results in a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15735.3 GenPept UniProtKB/Swiss-Prot:Q15735

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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