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Aliases for PPP1R18 Gene

Aliases for PPP1R18 Gene

  • Protein Phosphatase 1 Regulatory Subunit 18 2 3 4 5
  • KIAA1949 2 3 4
  • Protein Phosphatase 1 F-Actin Cytoskeleton Targeting Subunit 2 3
  • HKMT1098 3 4
  • Protein Phosphatase 1 F-Actin Cytoskeleton-Targeting Subunit 4
  • Protein Phosphatase 1, Regulatory Subunit 18 2
  • Phostensin 3

External Ids for PPP1R18 Gene

Previous HGNC Symbols for PPP1R18 Gene

  • KIAA1949

Previous GeneCards Identifiers for PPP1R18 Gene

  • GC06M030645

Summaries for PPP1R18 Gene

Entrez Gene Summary for PPP1R18 Gene

  • 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]

GeneCards Summary for PPP1R18 Gene

PPP1R18 (Protein Phosphatase 1 Regulatory Subunit 18) is a Protein Coding gene. Diseases associated with PPP1R18 include Deafness, Autosomal Recessive 79. Gene Ontology (GO) annotations related to this gene include actin binding and phosphatase binding. An important paralog of this gene is TPRN.

UniProtKB/Swiss-Prot for PPP1R18 Gene

  • Isoform 1: May target protein phosphatase 1 to F-actin cytoskeleton.

  • Isoform 4: May target protein phosphatase 1 to F-actin cytoskeleton.

Gene Wiki entry for PPP1R18 Gene

Additional gene information for PPP1R18 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R18 Gene

Genomics for PPP1R18 Gene

GeneHancer (GH) Regulatory Elements for PPP1R18 Gene

Promoters and enhancers for PPP1R18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J030678 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 668.7 +2.6 2569 13.5 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 NRM PPP1R18 DDX39B PPP1R10 LY6G5B DHX16 TRIM39 MDC1 ZNRD1 TRIM26
GH06J030757 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.8 -76.4 -76424 14 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF263 IER3 PPP1R10 MDC1 TRIM39 DDX39B LY6G5B ZNRD1 VARS2 GTF2H4 NRM
GH06J030816 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -132.0 -132026 6.6 HDGF FOXA2 SMAD1 MLX ARNT ARID4B SLC30A9 ZNF143 FOS SP5 IER3 DDR1 LSM2 PPP1R10 MDC1 TRIM39 LY6G5B ABCF1 PPP1R18 FLOT1
GH06J030746 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -63.5 -63532 9.5 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 FOS RN7SL353P MDC1 IER3 TRIM39 DDX39B DHX16 LY6G5B NRM ZNRD1 GTF2H4
GH06J030777 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -94.5 -94470 10.1 MLX ZFP64 DMAP1 YY1 SLC30A9 SP3 NFYC PPARGC1A MEF2D SSRP1 IER3 VARS2 PPP1R10 MDC1 DHX16 DDX39B GTF2H4 PAIP1P1 LY6G5B ETF1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R18 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PPP1R18 Gene

Genomic Locations for PPP1R18 Gene
chr6:30,676,389-30,687,895
(GRCh38/hg38)
Size:
11,507 bases
Orientation:
Minus strand
chr6:30,644,166-30,655,672
(GRCh37/hg19)
Size:
11,507 bases
Orientation:
Minus strand

Genomic View for PPP1R18 Gene

Genes around PPP1R18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PPP1R18 Gene

  • Protein details for PPP1R18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NYC8-PPR18_HUMAN
    Recommended name:
    Phostensin
    Protein Accession:
    Q6NYC8
    Secondary Accessions:
    • A2AB01
    • A2AIB8
    • A4UBI6
    • A6NCB7
    • A8MSS7
    • B7ZCV7
    • Q68CK8
    • Q6ZTV1
    • Q6ZUJ6
    • Q8NDQ4
    • Q8TF52
    • Q9BRL9

    Protein attributes for PPP1R18 Gene

    Size:
    613 amino acids
    Molecular mass:
    67943 Da
    Quaternary structure:
    • Interacts with Protein phosphatase 1 (PP1).
    SequenceCaution:
    • Sequence=BAB85535.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP1R18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R18 Gene

Post-translational modifications for PPP1R18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R18 Gene

No data available for DME Specific Peptides for PPP1R18 Gene

Domains & Families for PPP1R18 Gene

Gene Families for PPP1R18 Gene

Protein Domains for PPP1R18 Gene

Suggested Antigen Peptide Sequences for PPP1R18 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPP1R18: view

No data available for UniProtKB/Swiss-Prot for PPP1R18 Gene

Function for PPP1R18 Gene

Molecular function for PPP1R18 Gene

UniProtKB/Swiss-Prot Function:
Isoform 1: May target protein phosphatase 1 to F-actin cytoskeleton.
UniProtKB/Swiss-Prot Function:
Isoform 4: May target protein phosphatase 1 to F-actin cytoskeleton.

Phenotypes From GWAS Catalog for PPP1R18 Gene

Gene Ontology (GO) - Molecular Function for PPP1R18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 21516116
GO:0019902 phosphatase binding IEA --
genes like me logo Genes that share ontologies with PPP1R18: view

Phenotypes for PPP1R18 Gene

genes like me logo Genes that share phenotypes with PPP1R18: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R18 Gene

Localization for PPP1R18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R18 Gene

Isoform 1: Cytoplasm, cytoskeleton.
Isoform 4: Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R18 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1R18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PPP1R18: view

Pathways & Interactions for PPP1R18 Gene

SuperPathways for PPP1R18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP1R18 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PPP1R18 Gene

Drugs & Compounds for PPP1R18 Gene

No Compound Related Data Available

Transcripts for PPP1R18 Gene

mRNA/cDNA for PPP1R18 Gene

(2) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPP1R18 Gene

Protein phosphatase 1, regulatory subunit 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R18

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R18 Gene

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

Relevant External Links for PPP1R18 Gene

GeneLoc Exon Structure for
PPP1R18
ECgene alternative splicing isoforms for
PPP1R18

Expression for PPP1R18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP1R18 Gene

This gene is overexpressed in Whole Blood (x13.9).

Protein differential expression in normal tissues from HIPED for PPP1R18 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.0), NK cells (9.6), Bone marrow stromal cell (8.6), Bone marrow mesenchymal stem cell (8.2), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R18 Gene



NURSA nuclear receptor signaling pathways regulating expression of PPP1R18 Gene:

PPP1R18

SOURCE GeneReport for Unigene cluster for PPP1R18 Gene:

Hs.101150

mRNA Expression by UniProt/SwissProt for PPP1R18 Gene:

Q6NYC8-PPR18_HUMAN
Tissue specificity: Isoform 4 is predominantly expressed in leukocytes and spleen.

Evidence on tissue expression from TISSUES for PPP1R18 Gene

  • Liver(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PPP1R18: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R18 Gene

Orthologs for PPP1R18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R18 34 33
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP1R18 33
  • 86.61 (n)
KIAA1949 34
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R18 33
  • 85.3 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1r18 33
  • 81.71 (n)
mouse
(Mus musculus)
Mammalia Ppp1r18 16 34 33
  • 80.88 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R18 34
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R18 34
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R18 34
  • 26 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ppp1r18 34
  • 12 (a)
OneToOne
Species where no ortholog for PPP1R18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPP1R18 Gene

ENSEMBL:
Gene Tree for PPP1R18 (if available)
TreeFam:
Gene Tree for PPP1R18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R18: view image

Paralogs for PPP1R18 Gene

Paralogs for PPP1R18 Gene

genes like me logo Genes that share paralogs with PPP1R18: view

Variants for PPP1R18 Gene

Sequence variations from dbSNP and Humsavar for PPP1R18 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000005903 -- 30,682,159(-) C/T intron_variant
rs1001319286 -- 30,687,330(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001329182 -- 30,687,140(-) G/A 5_prime_UTR_variant
rs1001462517 -- 30,678,476(-) C/T intron_variant
rs1001513380 -- 30,678,201(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R18 Gene

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv2759413 CNV loss 17122850
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv10811 CNV gain 18304495
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv823472 CNV gain 20364138
nsv830626 CNV loss 17160897

Variation tolerance for PPP1R18 Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R18 Gene

Disorders for PPP1R18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP1R18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 79
  • dfnb79
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R18

genes like me logo Genes that share disorders with PPP1R18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R18 Gene

Publications for PPP1R18 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. Identification of the high molecular weight isoform of phostensin. (PMID: 24434620) Lin YS … Huang HB (International journal of molecular sciences 2014) 3 4 58
  3. Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit. (PMID: 17374523) Kao SC … Huang HB (Biochemical and biophysical research communications 2007) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PPP1R18 Gene

Sources for PPP1R18 Gene

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