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    PPP1R18 protein phosphatase 1 regulatory subunit 18 [ Homo sapiens (human) ]

    Gene ID: 170954, updated on 7-Apr-2024

    Summary

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    Official Symbol
    PPP1R18provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 18provided by HGNC
    Primary source
    HGNC:HGNC:29413
    See related
    Ensembl:ENSG00000146112 MIM:610990; AllianceGenome:HGNC:29413
    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
    HKMT1098; KIAA1949
    Summary
    Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in lymph node (RPKM 31.8), appendix (RPKM 27.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30676389..30688391, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30540595..30552089, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30644166..30654984, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene alpha tubulin acetyltransferase 1 Neighboring gene prothymosin alpha pseudogene 1 Neighboring gene chromosome 6 open reading frame 136 Neighboring gene DEAH-box helicase 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30638704-30639302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30640498-30641094 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:30642736-30642875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30649761-30650650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30650651-30651540 Neighboring gene nurim Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30668297-30668798 Neighboring gene ribosomal protein L7 pseudogene 4 Neighboring gene MDC1 antisense RNA 1 Neighboring gene mediator of DNA damage checkpoint 1

    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. Identification of the high molecular weight isoform of phostensin. Lin YS, et al. Int J Mol Sci, 2014 Jan 15. PMID 24434620, Free PMC Article
    2. Immunolocalization of phostensin in lymphatic cells and tissues. Lin YS, et al. J Histochem Cytochem, 2011 Aug. PMID 21804078, Free PMC Article
    3. Phostensin caps to the pointed end of actin filaments and modulates actin dynamics. Lai NS, et al. Biochem Biophys Res Commun, 2009 Oct 2. PMID 19622346
    4. Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit. Kao SC, et al. Biochem Biophys Res Commun, 2007 May 11. PMID 17374523
    5. Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4. Lin YS, et al. Biochem Biophys Res Commun, 2020 Oct 15. PMID 32800345

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
      Title: Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
    2. Authors identified an actin-regulatory protein, protein phosphatase 1 regulatory subunit 18 (PPP1r18), as an Src-binding protein in an Src-, Yes-, and Fyn-deficient fibroblast (SYF) cell line overexpressing a constitutively active form of Src. PPP1r18 was localized in the nucleus and actin ring.
      Title: The Actin-Binding Protein PPP1r18 Regulates Maturation, Actin Organization, and Bone Resorption Activity of Osteoclasts.
    3. phostensin is a ubiquitous protein in leukocytes, and it may play an important role in modulating the cellular functions of leukocytes.
      Title: Immunolocalization of phostensin in lymphatic cells and tissues.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    5. phostensin is an actin filament pointed end-capping protein that is capable of modulating actin dynamics.
      Title: Phostensin caps to the pointed end of actin filaments and modulates actin dynamics.
    6. our data shows that phostensin targets PP1 to F-actin cytoskeleton.
      Title: Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit.
    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)

    Genotypes

    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

    • KIAA1949

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phostensin
    Names
    protein phosphatase 1 F-actin cytoskeleton targeting subunit

    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_001134870.2 → NP_001128342.1  phostensin

      See identical proteins and their annotated locations for NP_001128342.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC006176, BX647622
      Consensus CDS
      CCDS43444.1
      UniProtKB/Swiss-Prot
      A2AB01, A2AIB8, A4UBI6, A6NCB7, A8MSS7, B7ZCV7, Q68CK8, Q6NYC8, Q6ZTV1, Q6ZUJ6, Q8NDQ4, Q8TF52, Q9BRL9
      UniProtKB/TrEMBL
      A0A024RCJ8, A0A1U9X8C7
      Related
      ENSP00000382150.3, ENST00000399199.7
      Conserved Domains (2) summary
      pfam13914
      Location:450 → 560
      Phostensin; Phostensin PP1-binding and SH3-binding region
      pfam13916
      Location:28 → 116
      Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

    2. NM_133471.4 → NP_597728.1  phostensin

      See identical proteins and their annotated locations for NP_597728.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB075829, BC006176
      Consensus CDS
      CCDS43444.1
      UniProtKB/Swiss-Prot
      A2AB01, A2AIB8, A4UBI6, A6NCB7, A8MSS7, B7ZCV7, Q68CK8, Q6NYC8, Q6ZTV1, Q6ZUJ6, Q8NDQ4, Q8TF52, Q9BRL9
      UniProtKB/TrEMBL
      A0A024RCJ8, A0A1U9X8C7
      Related
      ENSP00000274853.3, ENST00000274853.8
      Conserved Domains (2) summary
      pfam13914
      Location:450 → 560
      Phostensin; Phostensin PP1-binding and SH3-binding region
      pfam13916
      Location:28 → 116
      Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30676389..30688391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418258.1 → XP_047274214.1  phostensin isoform X2

      UniProtKB/Swiss-Prot
      A2AB01, A2AIB8, A4UBI6, A6NCB7, A8MSS7, B7ZCV7, Q68CK8, Q6NYC8, Q6ZTV1, Q6ZUJ6, Q8NDQ4, Q8TF52, Q9BRL9
      UniProtKB/TrEMBL
      A0A024RCJ8

    2. XM_047418257.1 → XP_047274213.1  phostensin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2005896..2017354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328450.1 → XP_054184425.1  phostensin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2156133..2167264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329740.1 → XP_054185715.1  phostensin isoform X2

      UniProtKB/TrEMBL
      A0A0G2JHC2

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1932243..1943701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330236.1 → XP_054186211.1  phostensin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1986642..1998136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330528.1 → XP_054186503.1  phostensin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2020466..2031960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330775.1 → XP_054186750.1  phostensin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1931503..1942321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30540595..30552089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354401.1 → XP_054210376.1  phostensin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NYC8.1 GenPept UniProtKB/Swiss-Prot:Q6NYC8

    Gene LinkOut

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

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