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PHACTR4 phosphatase and actin regulator 4 [ Homo sapiens (human) ]

Gene ID: 65979, updated on 5-Mar-2024

Summary

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Official Symbol
PHACTR4provided by HGNC
Official Full Name
phosphatase and actin regulator 4provided by HGNC
Primary source
HGNC:HGNC:25793
See related
Ensembl:ENSG00000204138 MIM:608726; AllianceGenome:HGNC:25793
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
PPP1R124
Summary
This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in esophagus (RPKM 8.8), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See PHACTR4 in Genome Data Viewer
Location:
1p35.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28369740..28500364)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28211573..28342320)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28696251..28826876)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28585772-28586620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 537 Neighboring gene sestrin 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:28616419-28617413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28640148-28640648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28655585-28656092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28656093-28656600 Neighboring gene mediator complex subunit 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28695423-28696378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 538 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:28726665-28726882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 539 Neighboring gene Sharpr-MPRA regulatory region 2241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 540 Neighboring gene RNA, U6atac small nuclear 27, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7965 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28833855-28834620 Neighboring gene small nucleolar RNA, H/ACA box 73A Neighboring gene small nucleolar RNA, H/ACA box 73B Neighboring gene small nucleolar RNA host gene 3 Neighboring gene regulator of chromosome condensation 1

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. STOP gene Phactr4 is a tumor suppressor. Solimini NL, et al. Proc Natl Acad Sci U S A, 2013 Jan 29. PMID 23319639, Free PMC Article
  2. Scapinin, a putative protein phosphatase-1 regulatory subunit associated with the nuclear nonchromatin structure. Sagara J, et al. J Biol Chem, 2003 Nov 14. PMID 12925532
  3. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. Allen PB, et al. Proc Natl Acad Sci U S A, 2004 May 4. PMID 15107502, Free PMC Article
  4. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. Yu Y, et al. Genome Res, 2001 Aug. PMID 11483580, Free PMC Article
  5. Claudin-4 localization in epithelial ovarian cancer. Neville MC, et al. Heliyon, 2022 Oct. PMID 36237976, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration.
    Title: Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration.
  2. Data indicate that Phactr4 acts as a tumor suppressor that is deleted and mutant in several cancers.
    Title: STOP gene Phactr4 is a tumor suppressor.
  3. The authors show that rat Phactr1 inhibits PP1 activity in vitro, and mouse Phactr4 coimmunoprecipitates with actin and PP1 in human cells.
    Title: Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins.
Submit: New GeneRIF Correction

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

  • FLJ13171, MGC20618, MGC34186, DKFZp686L07205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein phosphatase 1 binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein phosphatase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in Rho protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in closure of optic fissure ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of integrin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
phosphatase and actin regulator 4
Names
protein phosphatase 1, regulatory subunit 124

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_001048183.3 → NP_001041648.1  phosphatase and actin regulator 4 isoform 1

    See identical proteins and their annotated locations for NP_001041648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.Variants 1 and 5 encode the same protein (isoform 1).
    Source sequence(s)
    AL670471, CR391992
    Consensus CDS
    CCDS41293.1
    UniProtKB/Swiss-Prot
    A2APK6, B9ZVW0, D3DPM3, Q68DD4, Q6NUN6, Q8IZ21, Q8N384, Q9H395, Q9H6X0, Q9H8W6
    Related
    ENSP00000362945.3, ENST00000373839.8
    Conserved Domains (2) summary
    smart00707
    Location:584 → 608
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:64 → 86
    RPEL; RPEL repeat

  2. NM_001350158.2 → NP_001337087.1  phosphatase and actin regulator 4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini, but contains an additional internal segment when compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:592 → 616
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:72 → 94
    RPEL; RPEL repeat

  3. NM_001350159.2 → NP_001337088.1  phosphatase and actin regulator 4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR and contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini, but contains an additional internal segment when compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:592 → 616
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:72 → 94
    RPEL; RPEL repeat

  4. NM_001350160.2 → NP_001337089.1  phosphatase and actin regulator 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1 and 5 encode the same protein (isoform 1).
    Source sequence(s)
    AL670471, CR391992
    Consensus CDS
    CCDS41293.1
    UniProtKB/Swiss-Prot
    A2APK6, B9ZVW0, D3DPM3, Q68DD4, Q6NUN6, Q8IZ21, Q8N384, Q9H395, Q9H6X0, Q9H8W6
    Conserved Domains (2) summary
    smart00707
    Location:584 → 608
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:64 → 86
    RPEL; RPEL repeat

  5. NM_001350161.2 → NP_001337090.1  phosphatase and actin regulator 4 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' region, resulting in the use of a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:568 → 592
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:48 → 70
    RPEL; RPEL repeat

  6. NM_023923.4 → NP_076412.3  phosphatase and actin regulator 4 isoform 2

    See identical proteins and their annotated locations for NP_076412.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and initiates translation at an alternative AUG, compared to variant 1. The resulting isoform (2) has a distinct and longer N-terminus when compared to isoform 1.
    Source sequence(s)
    CR391992, CR589951
    Consensus CDS
    CCDS41294.1
    UniProtKB/Swiss-Prot
    Q8IZ21
    Related
    ENSP00000362942.3, ENST00000373836.4
    Conserved Domains (2) summary
    smart00707
    Location:594 → 618
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:74 → 96
    RPEL; RPEL repeat

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    28369740..28500364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    28211573..28342320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZ21.1 GenPept UniProtKB/Swiss-Prot:Q8IZ21

Gene LinkOut

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