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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PPP1R18 Gene

protein-coding   GIFtS: 41
GCID: GC06M030645

protein phosphatase 1, regulatory subunit 18

(Previous name: KIAA1949 )
(Previous symbol: KIAA1949)
 Explore 3 diseases affiliated with
PPP1R18 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PPP1R18    

Aliases
for PPP1R18 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Protein Phosphatase 1, Regulatory Subunit 181 2     HKMT10982 3
KIAA19491 2 3 5     Protein Phosphatase 1 F-Actin Cytoskeleton Targeting Subunit2
Phostensin1     Protein Phosphatase 1 F-Actin Cytoskeleton-Targeting Subunit3
Protein Phosphatase 1 Regulatory Subunit 182 3     

External Ids:    HGNC: 294131   Entrez Gene: 1709542   Ensembl: ENSG000001461127   OMIM: 6109905   UniProtKB: Q6NYC83   

Export aliases for PPP1R18 gene to outside databases


Summaries
for PPP1R18 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PPP1R18:
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)

UniProtKB/Swiss-Prot: PPR18_HUMAN, Q6NYC8
Function: May target protein phosphatase 1 to F-actin cytoskeleton

Gene Wiki entry for PPP1R18 (KIAA1949)


Genomic Views
for PPP1R18 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NT_167249.1  NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  
NT_167247.1  NT_167248.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PPP1R18
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PPP1R18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PPP1R18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

PPP1R18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPP1R18 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M030645:  view genomic region     (about GC identifiers)

Start:
 30,644,166 bp from pter      End:
 30,655,672 bp from pter
Size:
 11,507 bases      Orientation:
 minus strand

6 alternative locations:
Chr6-,ALT_REF_LOCI_3 30,634,431-30,656,975      Chr6-,ALT_REF_LOCI_5 30,637,474-30,648,980      Chr6-,ALT_REF_LOCI_2 30,634,035-30,684,729     
Chr6-,ALT_REF_LOCI_4 30,611,921-30,623,427      Chr6-,ALT_REF_LOCI_1 30,652,415-30,672,221      Chr6-,ALT_REF_LOCI_6 30,633,702-30,680,789     

Proteins
for PPP1R18 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PPR18_HUMAN, Q6NYC8 (See protein sequence)
Recommended Name: Phostensin  
Size: 613 amino acids; 67943 Da
Subunit: Interacts with Protein phosphatase 1 (PP1)
Subcellular location: Cytoplasm, cytoskeleton
Sequence caution: Sequence=ABL61261.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB85535.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2AB01 A2AIB8 A4UBI6 A6NCB7 A8MSS7 B7ZCV7 Q68CK8 Q6ZUJ6 Q8NDQ4 Q8TF52 Q9BRL9
Alternative splicing: 2 isoforms:  Q6NYC8-1   Q6NYC8-2   

Explore the universe of human proteins at neXtProt for PPP1R18: NX_Q6NYC8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NYC8

    • PPP1R18 Protein expression data from MOPED and PaxDb:    About this image 
    PPP1R18 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001128342.1  NP_597728.1  

    ENSEMBL proteins: 
     ENSP00000274853   ENSP00000382150  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--

    PPP1R18 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PPP1R18 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PPP1R18 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR025903 Phostensin/Taperin_N_dom
     IPR026671 PPP1R18/Tprn
     IPR025907 Phostensin/Taperin_PP1-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q6NYC8

    ProtoNet protein and cluster: Q6NYC8


    Function
    for PPP1R18 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPR18_HUMAN, Q6NYC8
    Function: May target protein phosphatase 1 to F-actin cytoskeleton

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0019902phosphatase binding IEA--
         
    PPP1R18 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    Inhib. RNA
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    Gene Editing
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    Cell Line
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    In Situ Assay
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    Pathways & Interactions
    for PPP1R18 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PPP1R18

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for PPP1R18 (Q6NYC83 ENSP000002748534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621363, ENSP000003260314I2D: score=1 STRING: ENSP00000326031
    MAPK14Q165393I2D: score=2 
    TRAF1Q130773I2D: score=1 
    TRIM27P143733I2D: score=1 
    About this table

    Drugs & Compounds
    for PPP1R18 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPP1R18
    Search CenterWatch for drugs/clinical trials and news about PPP1R18 / PPR18 

    Transcripts
    for PPP1R18 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PPP1R18 gene (2 alternative transcripts): 
    NM_001134870.1  NM_133471.3  

    Unigene Cluster for PPP1R18:

    Protein phosphatase 1, regulatory subunit 18
    Hs.101150  [show with all ESTs]
    Unigene Representative Sequence: NM_133471
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274853(uc003nra.3 uc003nrb.4) ENST00000399199 ENST00000488324
    ENST00000467662

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: PPP1R18
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PPP1R18
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    Additional cDNA sequence: 

    AB073600.1 AB075829.1 AK097089.1 AK124880.1 AK125639.1 AK126182.1 AL832318.1 AL832742.1 
    BC006176.1 BC023314.1 BC047721.1 BC066644.1 BX647622.1 DQ988947.1 

    8 DOTS entries:

    DT.40252328  DT.91864738  DT.92423626  DT.95167763  DT.97765563  DT.121338896  DT.121634752  DT.100753160 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R18    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c
    SP1:              -     -                                 
    SP2:              -     -     -                           
    SP3:                                                      
    SP4:                                                      


    ECgene alternative splicing isoforms for PPP1R18

    Expression
    for PPP1R18 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PPP1R18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGGGTACA
    PPP1R18 Expression
    About this image

    PPP1R18 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PPP1R18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PPP1R18

    SOURCE GeneReport for Unigene cluster: Hs.101150

    UniProtKB/Swiss-Prot: PPR18_HUMAN, Q6NYC8
    Tissue specificity: Predominantly expressed in leukocytes and spleen

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    In Situ
    Assay Products:     
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    Orthologs
    for PPP1R18 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PPP1R18 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia PPP1R186
    		 --
    		 25(a)
    		 1 ↔ 1
    		 2(192217312-192218967)
    zebrafish
    (Danio rerio)    		 Actinopterygii ppp1r181 protein phosphatase 1, regulatory subunit 18 47.03(n)
    37.44(a)    		   570052  XM_693482.4  XP_698574.2 


    ENSEMBL Gene Tree for PPP1R18 (if available)
    TreeFam Gene Tree for PPP1R18 (if available) 

    Paralogs
    for PPP1R18 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PPP1R18 gene
    TPRN2  

    PPP1R18 for paralogs           About GeneDecksing



    Genomic Variants
    for PPP1R18 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/158 NCBI SNPs in PPP1R18 are shown (see all 158)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1176424531,2
    		F--30643673(+) CATACT/CTACTT 3 -- int1 ds50011Minor allele frequency- C:0.05EA 120
    rs1845833681,2
    		--30643684(+) CATTTC/TGCAGC 2 -- int10--------
    rs94688051,2
    		C,F,A,H--30643709(+) TATTCG/ATAGCC 3 -- int1 ds500119Minor allele frequency- A:0.10NA NS EA WA CSA 2352
    rs2008305571,2
    		--30643724(+) CTCTT-/TAAG  
                TAAGT     		3 -- int1 ds50010--------
    rs283606041,2
    		C--30643767(+) ATACAC/GTACCT 3 -- int1 ds50017Minor allele frequency- G:0.14NA EA 604
    rs2015233671,2
    		--30644132(+) TACCC-/TTTTTT 3 -- int1 ds50010--------
    rs92621411,2
    		C,F,H--30644137(+) CTTTTT/CTTTTC 3 -- int1 ds500114Minor allele frequency- C:0.04NS EA NA WA 2040
    rs737274551,2
    		C,F--30644142(+) TTTTTC/TCCAAA 3 -- int1 ds50015Minor allele frequency- T:0.16WA CSA NA EA 362
    rs168977911,2
    		C,F,H--30644359(+) TAAGAG/TTTCCA 3 -- ut3120Minor allele frequency- T:0.10MN NA NS EA WA CSA 2458
    rs1894641461,2
    		--30644456(+) CTGGAA/GGGGAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for PPP1R18 (30644166 - 30655672 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PPP1R18: --

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    Disorders / Diseases
    for PPP1R18 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PPP1R18 for disorders           About GeneDecksing

    OMIM gene information: 610990    OMIM disorders: --

    3 diseases for PPP1R18:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    hepatoblastoma


    Export disorders for PPP1R18 gene to outside databases

    Publications
    for PPP1R18 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PPP1R18 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with PPP1R18)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit. (PubMed id 17374523)1, 2 Kao S.-C.... Huang H.-B. (2007)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Immunolocalization of phostensin in lymphatic cells a nd tissues. (PubMed id 21804078)1 Lin Y.S....Huang H.B. (2011)

    External Searches for PPP1R18 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing PPP1R18 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 170954 HGNC: 29413 Ensembl:ENSG00000146112 euGenes: HUgn170954 ECgene: PPP1R18
    H-InvDB: PPP1R18

    Other Databases showing PPP1R18 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1949

    Specialized Databases showing PPP1R18 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PPP1R18 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PPP1R18 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PPP1R18 gene:
    Search GeneIP for patents involving PPP1R18

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