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    PPP1R42 protein phosphatase 1 regulatory subunit 42 [ Homo sapiens (human) ]

    Gene ID: 286187, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PPP1R42provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 42provided by HGNC
    Primary source
    HGNC:HGNC:33732
    See related
    Ensembl:ENSG00000178125 MIM:617720; AllianceGenome:HGNC:33732
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dtr; TLLR; TLRR; LRRC67
    Summary
    The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]
    Expression
    Restricted expression toward testis (RPKM 6.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R42 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66964103..67028554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67390584..67455035, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67876338..67940789, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance domain containing 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:67837556-67838755 Neighboring gene small nucleolar RNA, C/D box 87 Neighboring gene small nucleolar RNA host gene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67852931-67853432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:67867090-67867662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27493 Neighboring gene transcription factor 24 Neighboring gene pre-mRNA processing factor 3 pseudogene Neighboring gene uncharacterized LOC124902097 Neighboring gene uncharacterized LOC105375885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27495 Neighboring gene COP9 signalosome subunit 5

    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 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. PPP1R42, a PP1 binding protein, regulates centrosome dynamics in ARPE-19 cells. DeVaul N, et al. Biol Cell, 2013 Aug. PMID 23718219, Free PMC Article
    2. Genome-scale RNAi screen for host factors required for HIV replication. Zhou H, et al. Cell Host Microbe, 2008 Nov 13. PMID 18976975
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPP1R42 regulation of PP1 function in centrosome separation.
      Title: PPP1R42, a PP1 binding protein, regulates centrosome dynamics in ARPE-19 cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of protein phosphatase 1, regulatory subunit 42 (PPP1R42) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: COPS5

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in manchette ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule organizing center ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 42
    Names
    leucine rich repeat containing 67
    leucine-rich repeat-containing protein 67
    testis leucine-rich repeat

    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_001013626.4 → NP_001013648.1  protein phosphatase 1 regulatory subunit 42 isoform 1

      See identical proteins and their annotated locations for NP_001013648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC110998, BC055413, BU678298
      Consensus CDS
      CCDS34902.1
      UniProtKB/Swiss-Prot
      Q7Z4L9
      Related
      ENSP00000315035.5, ENST00000324682.5
      Conserved Domains (3) summary
      COG4886
      Location:28 → 162
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:31 → 51
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:72 → 114
      LRR_4; Leucine Rich repeats (2 copies)

    2. NM_001348563.2 → NP_001335492.1  protein phosphatase 1 regulatory subunit 42 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC110998, BC055413, BX104552
      UniProtKB/Swiss-Prot
      Q7Z4L9
      Related
      ENST00000520633.1

    3. NM_001364910.1 → NP_001351839.1  protein phosphatase 1 regulatory subunit 42 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC110998
      Consensus CDS
      CCDS94299.1
      UniProtKB/Swiss-Prot
      G3V118, Q7Z4L9
      UniProtKB/TrEMBL
      A0A8I5KP60
      Related
      ENSP00000508980.1, ENST00000685739.1
      Conserved Domains (2) summary
      sd00033
      Location:31 → 51
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:1 → 104
      LRR_9; Leucine-rich repeat

    4. NM_001364911.2 → NP_001351840.1  protein phosphatase 1 regulatory subunit 42 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC110998
      Conserved Domains (1) summary
      pfam14580
      Location:61 → 154
      LRR_9; Leucine-rich repeat

    5. NM_001364912.2 → NP_001351841.1  protein phosphatase 1 regulatory subunit 42 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC110998
      Conserved Domains (2) summary
      sd00033
      Location:31 → 51
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:1 → 104
      LRR_9; Leucine-rich repeat

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66964103..67028554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      67390584..67455035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4L9.3 GenPept UniProtKB/Swiss-Prot:Q7Z4L9

    Gene LinkOut

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

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