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    INPP5F inositol polyphosphate-5-phosphatase F [ Homo sapiens (human) ]

    Gene ID: 22876, updated on 6-Jun-2024

    Summary

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    Official Symbol
    INPP5Fprovided by HGNC
    Official Full Name
    inositol polyphosphate-5-phosphatase Fprovided by HGNC
    Primary source
    HGNC:HGNC:17054
    See related
    Ensembl:ENSG00000198825 MIM:609389; AllianceGenome:HGNC:17054
    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
    SAC2; hSAC2; MSTP007; MSTPO47
    Summary
    The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in brain (RPKM 17.8), testis (RPKM 4.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INPP5F in Genome Data Viewer
    Location:
    10q26.11
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119726050..119829147)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120623626..120726730)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121485562..121588659)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902513 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121443219-121443398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:121446148-121447084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121447085-121448021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:121451095-121451594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4131 Neighboring gene thioredoxin pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121471328-121471517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121480870-121481758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2881 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121492744-121493244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121497641-121498186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121498187-121498732 Neighboring gene Sharpr-MPRA regulatory region 1472 Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8600 Neighboring gene uncharacterized LOC105378513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2883 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10184 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121575109-121575271 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121610009-121610508 Neighboring gene minichromosome maintenance complex binding protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4133 Neighboring gene NANOG hESC enhancer GRCh37_chr10:121648618-121649156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121650957-121651468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121651469-121651979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121651980-121652490 Neighboring gene SEC23 interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10320 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10351

    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. Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease. Xue F, et al. J Alzheimers Dis, 2022. PMID 35848021
    2. Gene expression of INPP5F as an independent prognostic marker in fludarabine-based therapy of chronic lymphocytic leukemia. Palermo G, et al. Blood Cancer J, 2015 Oct 2. PMID 26430724, Free PMC Article
    3. Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations. Zhao X, et al. J Cell Mol Med, 2020 Sep. PMID 32693431, Free PMC Article
    4. Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recycling. Hsu F, et al. J Cell Biol, 2015 Apr 13. PMID 25869669, Free PMC Article
    5. Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity. Kim HS, et al. Sci Rep, 2014 Dec 5. PMID 25476455, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease.
      Title: Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease.
    2. Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
      Title: Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
    3. we identified inositol polyphosphate-5-phosphatase F (INPP5F) as a prognostic factor for progression-free survival in Chronic lymphocytic leukemia
      Title: Gene expression of INPP5F as an independent prognostic marker in fludarabine-based therapy of chronic lymphocytic leukemia.
    4. These findings suggest that INPP5F is a potential tumor suppressor in gliomas via inhibition of STAT3 pathway, and that deregulation of INPP5F may lead to contribution to gliomagenesis.
      Title: Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity.
    5. Sac2 colocalizes with early endosomal markers and is recruited to transferrin-containing vesicles during endocytic recycling.
      Title: Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recycling.
    6. Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
      Title: Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    EBI GWAS Catalog

    Description
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of inositol polyphosphate-5-phosphatase F (INPP5F) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ13081, KIAA0966, MGC59773, MGC131851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inositol monophosphate 1-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol monophosphate 3-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol monophosphate 4-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phosphate 4-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol phosphate 4-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    NOT enables phosphatidylinositol phosphate 5-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol phosphate 5-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac muscle hypertrophy in response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in clathrin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidylinositol-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of receptor recycling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in clathrin-coated endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylinositide phosphatase SAC2
    Names
    Sac domain-containing inositol phosphatase 2
    sac domain-containing phosphoinositide 4-phosphatase 2
    sac domain-containing phosphoinositide 5-phosphatase 2
    NP_001230123.1
    NP_001230124.1
    NP_055752.1
    XP_006717783.1
    XP_011537829.2
    XP_011537830.1
    XP_011537831.1
    XP_047280790.1
    XP_047280792.1
    XP_047280793.1
    XP_047280794.1
    XP_054221199.1
    XP_054221200.1
    XP_054221201.1
    XP_054221202.1
    XP_054221203.1
    XP_054221204.1
    XP_054221205.1
    XP_054221206.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_044999.2 RefSeqGene

      Range
      26656..129753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1061

    mRNA and Protein(s)

    1. NM_001243194.2 → NP_001230123.1  phosphatidylinositide phosphatase SAC2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC027672, AL133461, CN362016, DN992317
      Consensus CDS
      CCDS58098.1
      UniProtKB/Swiss-Prot
      Q9Y2H2
      Related
      ENSP00000496955.1, ENST00000650409.1
      Conserved Domains (1) summary
      pfam12456
      Location:19 → 87
      hSac2; Inositol phosphatase

    2. NM_001243195.2 → NP_001230124.1  phosphatidylinositide phosphatase SAC2 isoform 3

      See identical proteins and their annotated locations for NP_001230124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI492073, AI783668, AL158014, BC052367, DB636424
      Consensus CDS
      CCDS81513.1
      UniProtKB/Swiss-Prot
      Q9Y2H2
      Related
      ENSP00000489864.1, ENST00000369081.3
      Conserved Domains (1) summary
      cl27434
      Location:50 → 199
      Syja_N; SacI homology domain

    3. NM_014937.4 → NP_055752.1  phosphatidylinositide phosphatase SAC2 isoform 1

      See identical proteins and their annotated locations for NP_055752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB023183, AC027672, AL158014
      Consensus CDS
      CCDS7616.1
      UniProtKB/Swiss-Prot
      B3KRF1, D3DRD1, Q2T9J4, Q5W135, Q5W136, Q6NVY2, Q86U97, Q9H3D9, Q9NT51, Q9Y2H2
      UniProtKB/TrEMBL
      A0A3B3IRJ9
      Related
      ENSP00000497527.1, ENST00000650623.2
      Conserved Domains (2) summary
      COG5329
      Location:50 → 567
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
      pfam12456
      Location:596 → 697
      hSac2; Inositol phosphatase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      119726050..119829147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717720.5 → XP_006717783.1  phosphatidylinositide phosphatase SAC2 isoform X6

      UniProtKB/TrEMBL
      A0A3B3ISI3
      Related
      ENSP00000497368.1, ENST00000649251.1
      Conserved Domains (2) summary
      pfam12456
      Location:595 → 629
      hSac2; Inositol phosphatase
      cl27434
      Location:50 → 567
      Syja_N; SacI homology domain

    2. XM_047424834.1 → XP_047280790.1  phosphatidylinositide phosphatase SAC2 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0

    3. XM_047424836.1 → XP_047280792.1  phosphatidylinositide phosphatase SAC2 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0
      Related
      ENSP00000497772.1, ENST00000647699.1

    4. XM_047424837.1 → XP_047280793.1  phosphatidylinositide phosphatase SAC2 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    5. XM_011539527.4 → XP_011537829.2  phosphatidylinositide phosphatase SAC2 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    6. XM_011539528.4 → XP_011537830.1  phosphatidylinositide phosphatase SAC2 isoform X2

      See identical proteins and their annotated locations for XP_011537830.1

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0
      Related
      ENSP00000497846.1, ENST00000649454.1
      Conserved Domains (2) summary
      pfam02383
      Location:73 → 319
      Syja_N; SacI homology domain
      pfam12456
      Location:499 → 601
      hSac2; Inositol phosphatase

    7. XM_047424838.1 → XP_047280794.1  phosphatidylinositide phosphatase SAC2 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    8. XM_011539529.3 → XP_011537831.1  phosphatidylinositide phosphatase SAC2 isoform X5

      Conserved Domains (1) summary
      pfam12456
      Location:109 → 211
      hSac2; Inositol phosphatase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      120623626..120726730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365231.1 → XP_054221206.1  phosphatidylinositide phosphatase SAC2 isoform X6

      UniProtKB/TrEMBL
      A0A3B3ISI3

    2. XM_054365225.1 → XP_054221200.1  phosphatidylinositide phosphatase SAC2 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0

    3. XM_054365226.1 → XP_054221201.1  phosphatidylinositide phosphatase SAC2 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0

    4. XM_054365228.1 → XP_054221203.1  phosphatidylinositide phosphatase SAC2 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    5. XM_054365224.1 → XP_054221199.1  phosphatidylinositide phosphatase SAC2 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    6. XM_054365227.1 → XP_054221202.1  phosphatidylinositide phosphatase SAC2 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRJ9, A0A3B3ITL0

    7. XM_054365229.1 → XP_054221204.1  phosphatidylinositide phosphatase SAC2 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRJ9

    8. XM_054365230.1 → XP_054221205.1  phosphatidylinositide phosphatase SAC2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2H2.3 GenPept UniProtKB/Swiss-Prot:Q9Y2H2

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