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 20... See more...

Aliases for PHACTR4 Gene

Aliases for PHACTR4 Gene

  • Phosphatase And Actin Regulator 4 2 3 4 5
  • Protein Phosphatase 1, Regulatory Subunit 124 2 3
  • PPP1R124 2 3
  • FLJ13171 2
  • PHACTR4 5

External Ids for PHACTR4 Gene

Previous GeneCards Identifiers for PHACTR4 Gene

  • GC01P028504
  • GC01P028627
  • GC01P028696
  • GC01P026949

Summaries for PHACTR4 Gene

Entrez Gene Summary for PHACTR4 Gene

  • 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]

GeneCards Summary for PHACTR4 Gene

PHACTR4 (Phosphatase And Actin Regulator 4) is a Protein Coding gene. Diseases associated with PHACTR4 include Hirschsprung Disease 1 and Coloboma Of Macula. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PHACTR2.

UniProtKB/Swiss-Prot Summary for PHACTR4 Gene

  • Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).

Additional gene information for PHACTR4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHACTR4 Gene

Genomics for PHACTR4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHACTR4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHACTR4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHACTR4

Top Transcription factor binding sites by QIAGEN in the PHACTR4 gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • FOXO1
  • FOXO1a
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • RFX1

Genomic Locations for PHACTR4 Gene

Genomic Locations for PHACTR4 Gene
chr1:28,369,582-28,500,364
(GRCh38/hg38)
Size:
130,783 bases
Orientation:
Plus strand
chr1:28,696,093-28,826,881
(GRCh37/hg19)
Size:
130,789 bases
Orientation:
Plus strand

Genomic View for PHACTR4 Gene

Genes around PHACTR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHACTR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHACTR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHACTR4 Gene

Proteins for PHACTR4 Gene

  • Protein details for PHACTR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ21-PHAR4_HUMAN
    Recommended name:
    Phosphatase and actin regulator 4
    Protein Accession:
    Q8IZ21
    Secondary Accessions:
    • A2APK6
    • B9ZVW0
    • D3DPM3
    • Q68DD4
    • Q6NUN6
    • Q8N384
    • Q9H395
    • Q9H6X0
    • Q9H8W6

    Protein attributes for PHACTR4 Gene

    Size:
    702 amino acids
    Molecular mass:
    78211 Da
    Quaternary structure:
    • Binds PPP1CA and actin.
    SequenceCaution:
    • Sequence=AAG35507.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH68508.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB14483.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15130.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAH18286.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for PHACTR4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHACTR4 Gene

Post-translational modifications for PHACTR4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHACTR4 Gene

Domains & Families for PHACTR4 Gene

Gene Families for PHACTR4 Gene

Protein Domains for PHACTR4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PHACTR4 Gene

GenScript: Design optimal peptide antigens:
  • Phosphatase and actin regulator 4 (PHAR4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZ21

UniProtKB/Swiss-Prot:

PHAR4_HUMAN :
  • Belongs to the phosphatase and actin regulator family.
Family:
  • Belongs to the phosphatase and actin regulator family.
genes like me logo Genes that share domains with PHACTR4: view

Function for PHACTR4 Gene

Molecular function for PHACTR4 Gene

UniProtKB/Swiss-Prot Function:
Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).

Phenotypes From GWAS Catalog for PHACTR4 Gene

Gene Ontology (GO) - Molecular Function for PHACTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0008157 protein phosphatase 1 binding ISS --
GO:0019888 protein phosphatase regulator activity IEA --
GO:0072542 protein phosphatase activator activity IEA,ISS --
genes like me logo Genes that share ontologies with PHACTR4: view
genes like me logo Genes that share phenotypes with PHACTR4: view

Animal Model Products

CRISPR Products

miRNA for PHACTR4 Gene

miRTarBase miRNAs that target PHACTR4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHACTR4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHACTR4 Gene

Localization for PHACTR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHACTR4 Gene

Cytoplasm. Cell projection, lamellipodium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHACTR4 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHACTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030027 lamellipodium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with PHACTR4: view

Pathways & Interactions for PHACTR4 Gene

PathCards logo

SuperPathways for PHACTR4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHACTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IEA,ISS --
GO:0001843 neural tube closure IEA,ISS --
GO:0007266 Rho protein signal transduction IEA,ISS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with PHACTR4: view

No data available for Pathways by source and SIGNOR curated interactions for PHACTR4 Gene

Drugs & Compounds for PHACTR4 Gene

No Compound Related Data Available

Transcripts for PHACTR4 Gene

mRNA/cDNA for PHACTR4 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHACTR4

Alternative Splicing Database (ASD) splice patterns (SP) for PHACTR4 Gene

No ASD Table

Relevant External Links for PHACTR4 Gene

GeneLoc Exon Structure for
PHACTR4

Expression for PHACTR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHACTR4 Gene

Protein differential expression in normal tissues from HIPED for PHACTR4 Gene

This gene is overexpressed in Fetal Brain (15.6), Pancreas (12.0), Testis (8.6), and Fetal Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHACTR4 Gene



Protein tissue co-expression partners for PHACTR4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHACTR4

SOURCE GeneReport for Unigene cluster for PHACTR4 Gene:

Hs.225641

Evidence on tissue expression from TISSUES for PHACTR4 Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Skin(4.3)
  • Adrenal gland(4.1)
genes like me logo Genes that share expression patterns with PHACTR4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHACTR4 Gene

Orthologs for PHACTR4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHACTR4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PHACTR4 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PHACTR4 30 31
  • 90.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PHACTR4 30 31
  • 87.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Phactr4 30 17 31
  • 82.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phactr4 30
  • 81.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia PHACTR4 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR4 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PHACTR4 30 31
  • 66.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 36 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.28993 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6262 30
Zebrafish
(Danio rerio)
Actinopterygii phactr4b 31
  • 40 (a)
OneToMany
phactr4a 31
  • 30 (a)
OneToMany
zgc63484 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG32264 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F26H9.2 31
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9409 31
  • 53 (a)
ManyToMany
CSA.1850 31
  • 22 (a)
ManyToMany
Species where no ortholog for PHACTR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PHACTR4 Gene

ENSEMBL:
Gene Tree for PHACTR4 (if available)
TreeFam:
Gene Tree for PHACTR4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHACTR4: view image

Paralogs for PHACTR4 Gene

Paralogs for PHACTR4 Gene

genes like me logo Genes that share paralogs with PHACTR4: view

Variants for PHACTR4 Gene

Additional dbSNP identifiers (rs#s) for PHACTR4 Gene

Structural Variations from Database of Genomic Variants (DGV) for PHACTR4 Gene

Variant ID Type Subtype PubMed ID
esv2763087 CNV loss 21179565
esv3585579 CNV loss 21293372
esv3585580 CNV loss 21293372
esv3585584 CNV gain 21293372
nsv1110656 CNV insertion 24896259
nsv1142053 CNV tandem duplication 24896259
nsv1145329 CNV deletion 24896259
nsv472443 CNV novel sequence insertion 20440878
nsv473950 CNV novel sequence insertion 20440878
nsv474600 CNV novel sequence insertion 20440878
nsv475285 CNV novel sequence insertion 20440878
nsv475450 CNV novel sequence insertion 20440878
nsv475594 CNV novel sequence insertion 20440878
nsv477974 CNV novel sequence insertion 20440878
nsv478136 CNV novel sequence insertion 20440878
nsv478587 CNV novel sequence insertion 20440878
nsv479078 CNV novel sequence insertion 20440878
nsv479237 CNV novel sequence insertion 20440878
nsv479444 CNV novel sequence insertion 20440878
nsv479574 CNV novel sequence insertion 20440878
nsv479595 CNV novel sequence insertion 20440878
nsv480111 CNV novel sequence insertion 20440878
nsv480119 CNV novel sequence insertion 20440878
nsv480236 CNV novel sequence insertion 20440878
nsv480258 CNV novel sequence insertion 20440878
nsv480514 CNV novel sequence insertion 20440878
nsv480717 CNV novel sequence insertion 20440878
nsv480901 CNV novel sequence insertion 20440878
nsv480904 CNV novel sequence insertion 20440878
nsv480960 CNV novel sequence insertion 20440878
nsv481019 CNV novel sequence insertion 20440878
nsv481172 CNV novel sequence insertion 20440878
nsv481264 CNV novel sequence insertion 20440878
nsv481357 CNV novel sequence insertion 20440878
nsv481368 CNV novel sequence insertion 20440878
nsv481407 CNV novel sequence insertion 20440878
nsv545916 CNV gain 21841781
nsv7568 CNV insertion 18451855

Variation tolerance for PHACTR4 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.24; 81.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHACTR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHACTR4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHACTR4 Gene

Disorders for PHACTR4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHACTR4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PHACTR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHACTR4 Gene

Publications for PHACTR4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. (PMID: 15107502) Allen PB … Greengard P (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3
  3. 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. (PMID: 11483580) Yu Y … He F (Genome research 2001) 2 3
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3
  5. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. (PMID: 30890647) Viita T … Vartiainen MK (Journal of cell science 2019) 3

Products for PHACTR4 Gene

Sources for PHACTR4 Gene