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    INPP5A inositol polyphosphate-5-phosphatase A [ Homo sapiens (human) ]

    Gene ID: 3632, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INPP5Aprovided by HGNC
    Official Full Name
    inositol polyphosphate-5-phosphatase Aprovided by HGNC
    Primary source
    HGNC:HGNC:6076
    See related
    Ensembl:ENSG00000068383 MIM:600106; AllianceGenome:HGNC:6076
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    5PTASE
    Summary
    The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 7.6), testis (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INPP5A in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (132537787..132783480)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (133486789..133732662)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134351291..134596984)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134278755-134279345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134290270-134290870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134290871-134291472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134293876-134294475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134312545-134313046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134313047-134313546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134318393-134319092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:134319093-134319792 Neighboring gene uncharacterized LOC107984282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134329666-134330173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134330174-134330682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134330683-134331190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134331699-134332206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134341290-134341790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134354248-134354782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134354783-134355317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134358889-134359475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134359476-134360063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134364355-134365095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134363612-134364354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134368819-134369319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134383840-134384610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134385380-134386149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134386150-134386918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134386919-134387688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134387689-134388458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134389229-134389997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134388459-134389228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134421607-134422108 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:134435556-134436755 Neighboring gene VISTA enhancer hs1763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134447817-134448326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134457392-134457911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134457912-134458430 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:134479264-134480463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134500796-134501540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134523253-134523753 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134547759-134547916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134548289-134548940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134557071-134557606 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134558117-134558298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:134559215-134559750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134562014-134562722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134562723-134563429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134602203-134602997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134605509-134606010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134618799-134619300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134621641-134622614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134630880-134631380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134631381-134631881 Neighboring gene NK6 homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134639797-134640296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134649804-134650334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134650335-134650865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134650866-134651395 Neighboring gene uncharacterized LOC105378571 Neighboring gene cilia and flagella associated protein 46 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134671704-134672235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134672236-134672766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134675086-134675618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134675619-134676150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134676151-134676683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134676684-134677215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134702122-134702650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:134705471-134706670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134717884-134718384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134725531-134726338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134726339-134727144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134751137-134751864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134751865-134752590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134755387-134755970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134755971-134756554 Neighboring gene uncharacterized LOC105378572 Neighboring gene long intergenic non-protein coding RNA 1166

    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. Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma. Sekulic A, et al. Cancer Prev Res (Phila), 2010 Oct. PMID 20876729, Free PMC Article
    2. Chromosomal mapping of the gene (INPP5A) encoding the 43-kDa membrane-associated inositol polyphosphate 5-phosphatase to 10q26.3 by fluorescence in situ hybridization. Mitchell CA, et al. Genomics, 1996 Jan 1. PMID 8808294
    3. Cloning and expression of human brain type I inositol 1,4,5-trisphosphate 5-phosphatase. High levels of mRNA in cerebellar Purkinje cells. De Smedt F, et al. FEBS Lett, 1994 Jun 20. PMID 8013665
    4. Post-translational modification of human brain type I inositol-1,4,5-trisphosphate 5-phosphatase by farnesylation. De Smedt F, et al. J Biol Chem, 1996 Apr 26. PMID 8626616
    5. Cloning, expression and chromosomal location of NKX6B TO 10Q26, a region frequently deleted in brain tumors. Lee SH, et al. Mamm Genome, 2001 Feb. PMID 11210186

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ataxic phenotype and characteristics neurodegeneration of the Inpp5a Gt(OST50073)Lex mouse indicate a crucial role for Inpp5a in purkinje cells survival.
      Title: Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice.
    2. NPP5Amay play a role in development and progression of cutaneous squamous cell carcinoma tumors
      Title: Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
    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

    • MGC116947, MGC116949, DKFZp434A1721

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PH domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 inositol-polyphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-polyphosphate 5-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-polyphosphate 5-phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 phospholipase C-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    inositol polyphosphate-5-phosphatase A
    Names
    43 kDa inositol polyphosphate 5-phophatase
    43 kDa inositol polyphosphate 5-phosphatase
    CTCL tumor antigen HD-CL-02
    InsP3 5-phosphatase
    inositol polyphosphate-5-phosphatase, 40kD
    inositol polyphosphate-5-phosphatase, 40kDa
    inositol trisphosphate-5-phosphatase, 40kD
    type I inositol 1,4,5-trisphosphate 5-phosphatase
    type I inositol-1,4,5-trisphosphate 5-phophatase
    NP_001307971.1
    NP_005530.3
    XP_016871693.1
    XP_016871694.1
    XP_054221771.1
    XP_054221772.1

    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_001321042.2 → NP_001307971.1  inositol polyphosphate-5-phosphatase A isoform b

      Status: REVIEWED

      Source sequence(s)
      AL392043, BC096280, BI964266, Z31695
      UniProtKB/TrEMBL
      Q9C055
      Conserved Domains (1) summary
      cl00490
      Location:39 → 330
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. NM_005539.5 → NP_005530.3  inositol polyphosphate-5-phosphatase A isoform a

      See identical proteins and their annotated locations for NP_005530.3

      Status: REVIEWED

      Source sequence(s)
      AL392043, BC096280, BI964266, HY025461, Z31695
      Consensus CDS
      CCDS7669.2
      UniProtKB/Swiss-Prot
      D3DXI3, Q14640, Q14642, Q5JSF1
      UniProtKB/TrEMBL
      Q4VAR4
      Related
      ENSP00000357583.3, ENST00000368594.8
      Conserved Domains (1) summary
      cd09092
      Location:10 → 394
      INPP5A; Type I inositol polyphosphate 5-phosphatase I

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      132537787..132783480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016205.2 → XP_016871694.1  inositol polyphosphate-5-phosphatase A isoform X2

      Conserved Domains (1) summary
      cl00490
      Location:10 → 301
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. XM_017016204.2 → XP_016871693.1  inositol polyphosphate-5-phosphatase A isoform X1

      UniProtKB/TrEMBL
      Q9C055
      Conserved Domains (1) summary
      cl00490
      Location:45 → 336
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    RNA

    1. XR_001747104.2 RNA Sequence

    2. XR_945735.2 RNA Sequence

    3. XR_007061963.1 RNA Sequence

    4. XR_007061962.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      133486789..133732662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365797.1 → XP_054221772.1  inositol polyphosphate-5-phosphatase A isoform X2

    2. XM_054365796.1 → XP_054221771.1  inositol polyphosphate-5-phosphatase A isoform X1

      UniProtKB/TrEMBL
      Q9C055

    RNA

    1. XR_008488213.1 RNA Sequence

    2. XR_008488212.1 RNA Sequence

    3. XR_008488211.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14642.1 GenPept UniProtKB/Swiss-Prot:Q14642

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