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

Gene ID: 116729, updated on 5-Mar-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. Predicted to be involved in negative regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 3.7), esophagus (RPKM 0.9) and 3 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81833492..81835050, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82700657..82702215, complement)
105.20220307 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

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. 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
  3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) 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)

Genotypes

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_2023_10

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

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