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Aliases for PPP1R27 Gene

Aliases for PPP1R27 Gene

  • Protein Phosphatase 1 Regulatory Subunit 27 2 3 5
  • Dysferlin-Interacting Protein 1 (Toonin) 2 3
  • Dysferlin Interacting Protein 1 2 3
  • DYSFIP1 3 4
  • Toonin 3 4
  • Protein Phosphatase 1, Regulatory Subunit 27 2
  • Dysferlin Interacting Protein 1 (Toonin) 2
  • Dysferlin-Interacting Protein 1 4

External Ids for PPP1R27 Gene

Previous HGNC Symbols for PPP1R27 Gene

  • DYSFIP1

Previous GeneCards Identifiers for PPP1R27 Gene

  • GC17M079793

Summaries for PPP1R27 Gene

GeneCards Summary for PPP1R27 Gene

PPP1R27 (Protein Phosphatase 1 Regulatory Subunit 27) is a Protein Coding gene. GO annotations related to this gene include phosphatase binding and protein phosphatase inhibitor activity. An important paralog of this gene is NRARP.

UniProtKB/Swiss-Prot for PPP1R27 Gene

  • Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R27 Gene

Genomics for PPP1R27 Gene

Regulatory Elements for PPP1R27 Gene

Enhancers for PPP1R27 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G081700 1.4 ENCODE dbSUPER 11.9 +132.3 132260 4.2 HDGF MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ARL16 ENSG00000262049 TSPAN10 GCGR MCRIP1 PPP1R27 ENSG00000262652 CCDC137 NARF-IT1 ARL2BPP9
GH17G081558 1.4 Ensembl ENCODE dbSUPER 11.2 +270.7 270688 11.1 PKNOX1 NFIB ZSCAN4 SIN3A FEZF1 RAD21 ZNF366 FOS RELB EGR2 NPLOC4 TSPAN10 ARL16 OXLD1 ENSG00000229848 FSCN2 PDE6G CCDC137 GCGR MCRIP1
GH17G081682 1.1 ENCODE 11.7 +150.9 150896 3.5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS SP3 ARL16 ALYREF CCDC137 PDE6G NPLOC4 TSPAN10 P4HB GCGR MCRIP1 PPP1R27
GH17G081384 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +438.9 438947 22.4 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC ENSG00000262877 ENSG00000262049 CEP131 TSPAN10 TMEM105 ARL16 ENSG00000265678 GPS1 LOC100130370 ENSG00000264548
GH17G081681 0.7 ENCODE 11.7 +153.4 153415 0.9 HLF ZBTB8A ZIC2 OSR2 NFIL3 GLIS2 ZNF629 GLIS1 ZNF600 SP7 ARL16 NPLOC4 TSPAN10 GCGR PPP1R27 MCRIP1 ALYREF ANAPC11 NPB PCYT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP1R27 on UCSC Golden Path with GeneCards custom track

Promoters for PPP1R27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099484 1950 1401 HDGF MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2

Genomic Location for PPP1R27 Gene

Chromosome:
17
Start:
81,833,492 bp from pter
End:
81,835,050 bp from pter
Size:
1,559 bases
Orientation:
Minus strand

Genomic View for PPP1R27 Gene

Genes around PPP1R27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R27 Gene

Proteins for PPP1R27 Gene

  • Protein details for PPP1R27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WC6-PPR27_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 27
    Protein Accession:
    Q86WC6

    Protein attributes for PPP1R27 Gene

    Size:
    154 amino acids
    Molecular mass:
    17438 Da
    Quaternary structure:
    • Interacts with DYSF and PPP1CA.

neXtProt entry for PPP1R27 Gene

Post-translational modifications for PPP1R27 Gene

  • Ubiquitination at posLast=8585
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP1R27 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPP1R27 Gene

Domains & Families for PPP1R27 Gene

Protein Domains for PPP1R27 Gene

Suggested Antigen Peptide Sequences for PPP1R27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPP1R27: view

No data available for UniProtKB/Swiss-Prot for PPP1R27 Gene

Function for PPP1R27 Gene

Molecular function for PPP1R27 Gene

UniProtKB/Swiss-Prot Function:
Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Gene Ontology (GO) - Molecular Function for PPP1R27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0005515 protein binding IPI 19389623
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with PPP1R27: view
genes like me logo Genes that share phenotypes with PPP1R27: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PPP1R27 Gene

Localization for PPP1R27 Gene

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 PPP1R27 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PPP1R27 Gene

Pathways & Interactions for PPP1R27 Gene

SuperPathways for PPP1R27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP1R27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with PPP1R27: view

No data available for Pathways by source and SIGNOR curated interactions for PPP1R27 Gene

Drugs & Compounds for PPP1R27 Gene

No Compound Related Data Available

Transcripts for PPP1R27 Gene

mRNA/cDNA for PPP1R27 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPP1R27 Gene

Protein phosphatase 1, regulatory subunit 27:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R27 Gene

No ASD Table

Relevant External Links for PPP1R27 Gene

GeneLoc Exon Structure for
PPP1R27
ECgene alternative splicing isoforms for
PPP1R27

Expression for PPP1R27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R27 Gene

mRNA differential expression in normal tissues according to GTEx for PPP1R27 Gene

This gene is overexpressed in Muscle - Skeletal (x50.4).

NURSA nuclear receptor signaling pathways regulating expression of PPP1R27 Gene:

PPP1R27

SOURCE GeneReport for Unigene cluster for PPP1R27 Gene:

Hs.454720

Evidence on tissue expression from TISSUES for PPP1R27 Gene

  • Nervous system(4.1)
  • Muscle(3.7)
genes like me logo Genes that share expression patterns with PPP1R27: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R27 Gene

Orthologs for PPP1R27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYSFIP1 34
  • 99.57 (n)
PPP1R27 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R27 34 35
  • 88.31 (n)
cow
(Bos Taurus)
Mammalia PPP1R27 34 35
  • 88.1 (n)
mouse
(Mus musculus)
Mammalia Ppp1r27 34 16 35
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1r27 34
  • 84.85 (n)
chicken
(Gallus gallus)
Aves PPP1R27 34 35
  • 73.6 (n)
lizard
(Anolis carolinensis)
Reptilia PPP1R27 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r27 34
  • 72.27 (n)
zebrafish
(Danio rerio)
Actinopterygii ppp1r27 34 35
  • 67.47 (n)
PPP1R27 (2 of 2) 35
  • 38 (a)
OneToMany
Species where no ortholog for PPP1R27 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPP1R27 Gene

ENSEMBL:
Gene Tree for PPP1R27 (if available)
TreeFam:
Gene Tree for PPP1R27 (if available)

Paralogs for PPP1R27 Gene

Paralogs for PPP1R27 Gene

(13) SIMAP similar genes for PPP1R27 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PPP1R27: view

Variants for PPP1R27 Gene

Sequence variations from dbSNP and Humsavar for PPP1R27 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000452669 -- 81,834,405(+) TTGCC(A/G)ACACC intron-variant, upstream-variant-2KB
rs1000817457 -- 81,835,594(+) CCATC(C/T)TGGCT upstream-variant-2KB
rs1001078732 -- 81,835,394(+) CCTGG(A/G)AAGTG upstream-variant-2KB
rs1001700528 -- 81,835,645(+) TAGCC(A/G)GGCGT upstream-variant-2KB
rs1002083981 -- 81,833,378(+) GATTC(C/T)CGTGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PPP1R27 Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv952390 CNV deletion 24416366

Variation tolerance for PPP1R27 Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP1R27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R27 Gene

Disorders for PPP1R27 Gene

Relevant External Links for PPP1R27

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP1R27

No disorders were found for PPP1R27 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPP1R27 Gene

Publications for PPP1R27 Gene

  1. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for PPP1R27 Gene

Sources for PPP1R27 Gene

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