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PPP4R1 protein phosphatase 4 regulatory subunit 1 [ Homo sapiens (human) ]

Gene ID: 9989, updated on 1-Jun-2020

Summary

Official Symbol
PPP4R1provided by HGNC
Official Full Name
protein phosphatase 4 regulatory subunit 1provided by HGNC
Primary source
HGNC:HGNC:9320
See related
Ensembl:ENSG00000154845 MIM:604908
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
MEG1; PP4R1; PP4(Rmeg)
Summary
This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Expression
Ubiquitous expression in esophagus (RPKM 39.0), testis (RPKM 25.5) and 25 other tissues See more
Orthologs

Genomic context

See PPP4R1 in Genome Data Viewer
Location:
18p11.22
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (9546794..9615273, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9546789..9614605, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ralA binding protein 1 Neighboring gene iroquois homeobox 4 pseudogene 1 Neighboring gene RNA, U2 small nuclear 27, pseudogene Neighboring gene PPP4R1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 903, pseudogene Neighboring gene long intergenic non-protein coding RNA 2856

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to phosphoprotein phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphatase regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
protein phosphatase 4 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
protein serine/threonine phosphatase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein phosphatase 4 regulatory subunit 1
Names
serine/threonine phosphatase 4

NCBI Reference Sequences (RefSeq)

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_001042388.3NP_001035847.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform a

    See identical proteins and their annotated locations for NP_001035847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform a).
    Source sequence(s)
    AF100744, AK027064, BC060829, DR006046
    Consensus CDS
    CCDS42412.1
    UniProtKB/Swiss-Prot
    Q8TF05
    Related
    ENSP00000383402.3, ENST00000400556.7
    Conserved Domains (2) summary
    pfam15017
    Location:449473
    AF1Q; Drug resistance and apoptosis regulator
    sd00044
    Location:133157
    HEAT; HEAT repeat [structural motif]
  2. NM_001382562.1NP_001369491.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AP000902, AP001381
  3. NM_005134.4NP_005125.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform b

    See identical proteins and their annotated locations for NP_005125.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1.This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AF100744, BC060829
    Consensus CDS
    CCDS42413.1
    UniProtKB/Swiss-Prot
    Q8TF05
    Related
    ENSP00000383401.3, ENST00000400555.7
    Conserved Domains (2) summary
    pfam15017
    Location:432456
    AF1Q; Drug resistance and apoptosis regulator
    sd00044
    Location:116140
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_052003.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI621152, AK293869, AK295533, AP001381, DR006046
  2. NR_168403.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP000902, AP001381
  3. NR_168404.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP000902, AP001381

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    9546794..9615273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525776.1XP_011524078.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform X2

    Conserved Domains (2) summary
    pfam15017
    Location:484508
    AF1Q; Drug resistance and apoptosis regulator
    sd00044
    Location:168192
    HEAT; HEAT repeat [structural motif]
  2. XM_017026107.1XP_016881596.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform X5

  3. XM_011525779.3XP_011524081.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform X4

    Conserved Domains (1) summary
    sd00044
    Location:605633
    HEAT; HEAT repeat [structural motif]
  4. XM_017026105.2XP_016881594.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform X3

  5. XM_011525775.3XP_011524077.1  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform X1

    Conserved Domains (2) summary
    pfam15017
    Location:501525
    AF1Q; Drug resistance and apoptosis regulator
    sd00044
    Location:185209
    HEAT; HEAT repeat [structural motif]

RNA

  1. XR_001753307.2 RNA Sequence

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