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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
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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

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