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    PPP1R27 protein phosphatase 1 regulatory subunit 27 [ Homo sapiens (human) ]

    Gene ID: 116729, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PPP1R27provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 27provided by HGNC
    Primary source
    HGNC:HGNC:16813
    See related
    Ensembl:ENSG00000182676 AllianceGenome:HGNC:16813
    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
    DYSFIP1
    Summary
    Enables phosphatase binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in prostate (RPKM 3.7), esophagus (RPKM 0.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R27 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81833492..81835050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82700657..82702215, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79791368..79792926, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376789 Neighboring gene glucagon receptor Neighboring gene Sharpr-MPRA regulatory region 4607 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79781934-79782157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79783828-79784461 Neighboring gene MAPK regulated corepressor interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79789117-79789630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79789631-79790144 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79791171-79791684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792198-79792710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792711-79793223 Neighboring gene prolyl 4-hydroxylase subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79813353-79813852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9154 Neighboring gene uncharacterized LOC124904086 Neighboring gene Sharpr-MPRA regulatory region 9355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79823980-79824608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825239-79825867 Neighboring gene Rho GDP dissociation inhibitor alpha

    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. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623
    2. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138299

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 27
    Names
    dysferlin interacting protein 1
    dysferlin-interacting protein 1 (toonin)
    toonin

    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_001007533.4 → NP_001007534.1  protein phosphatase 1 regulatory subunit 27

      See identical proteins and their annotated locations for NP_001007534.1

      Status: VALIDATED

      Source sequence(s)
      AA722724, BC112094, BI826571, DA894509
      Consensus CDS
      CCDS32767.1
      UniProtKB/Swiss-Prot
      Q86WC6
      Related
      ENSP00000331065.4, ENST00000330261.5
      Conserved Domains (2) summary
      cd00204
      Location:38 → 147
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:63 → 94
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81833492..81835050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160021.1 Reference GRCh38.p14 PATCHES

      Range
      46985..48543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82700657..82702215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WC6.1 GenPept UniProtKB/Swiss-Prot:Q86WC6

    Gene LinkOut

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

    Chemical Information
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