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Aliases for PHACTR3 Gene

Aliases for PHACTR3 Gene

  • Phosphatase And Actin Regulator 3 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 123 2 3
  • Scaffold-Associated PP1-Inhibiting Protein 3 4
  • C20orf101 3 4
  • SCAPININ 3 4
  • SCAPIN1 3 4
  • Chromosome 20 Open Reading Frame 101 2
  • PPP1R123 3
  • H17739 3

External Ids for PHACTR3 Gene

Previous HGNC Symbols for PHACTR3 Gene

  • C20orf101

Previous GeneCards Identifiers for PHACTR3 Gene

  • GC20P058866
  • GC20P057585
  • GC20P058152
  • GC20P054968

Summaries for PHACTR3 Gene

Entrez Gene Summary for PHACTR3 Gene

  • This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for PHACTR3 Gene

PHACTR3 (Phosphatase And Actin Regulator 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include actin binding and protein phosphatase 1 binding. An important paralog of this gene is PHACTR1.

Gene Wiki entry for PHACTR3 Gene

Additional gene information for PHACTR3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHACTR3 Gene

Genomics for PHACTR3 Gene

GeneHancer (GH) Regulatory Elements for PHACTR3 Gene

Promoters and enhancers for PHACTR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I059606 Promoter/Enhancer 1 EPDnew dbSUPER 561.7 +27.0 27012 0.1 CREB1 RCOR1 ATF7 ATF2 CREM EZH2 PHACTR3 LOC100506384
GH20I059605 Promoter/Enhancer 0.8 EPDnew dbSUPER 561.7 +27.4 27386 0.1 EZH2 PHACTR3 LOC100506384
GH20I059676 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.2 +99.2 99164 0.1 ZNF512B PHACTR3 LOC100506384 RNU7-141P
GH20I059577 Promoter 0.7 EPDnew 550.8 0.0 -33 0.1 SUZ12 EZH2 PHACTR3 ENSG00000227282
GH20I059629 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.2 +51.1 51122 0.1 LOC100506384 PHACTR3 RNU7-141P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHACTR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHACTR3 gene promoter:

Genomic Locations for PHACTR3 Gene

Genomic Locations for PHACTR3 Gene
chr20:59,577,509-59,847,711
(GRCh38/hg38)
Size:
270,203 bases
Orientation:
Plus strand
chr20:58,152,564-58,422,766
(GRCh37/hg19)

Genomic View for PHACTR3 Gene

Genes around PHACTR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHACTR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHACTR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHACTR3 Gene

Proteins for PHACTR3 Gene

  • Protein details for PHACTR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KR7-PHAR3_HUMAN
    Recommended name:
    Phosphatase and actin regulator 3
    Protein Accession:
    Q96KR7
    Secondary Accessions:
    • B1AKX0
    • B1AN68
    • B1AN69
    • B2RB46
    • Q32P33
    • Q707P6
    • Q9H4T4

    Protein attributes for PHACTR3 Gene

    Size:
    559 amino acids
    Molecular mass:
    62552 Da
    Quaternary structure:
    • Binds actin and PPP1CA; thus inhibiting the protein phosphatase 1 (PP1) activity.
    SequenceCaution:
    • Sequence=CAC67489.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PHACTR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHACTR3 Gene

Post-translational modifications for PHACTR3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PHACTR3 Gene

Domains & Families for PHACTR3 Gene

Gene Families for PHACTR3 Gene

Protein Domains for PHACTR3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96KR7

UniProtKB/Swiss-Prot:

PHAR3_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 PHACTR3: view

Function for PHACTR3 Gene

Molecular function for PHACTR3 Gene

UniProtKB/Swiss-Prot Induction:
Down-regulated in HL-60 leukemia cells by RA, PMA and dimethyl sulfoxide.

Phenotypes From GWAS Catalog for PHACTR3 Gene

Gene Ontology (GO) - Molecular Function for PHACTR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0008157 protein phosphatase 1 binding IEA --
GO:0019888 protein phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with PHACTR3: view
genes like me logo Genes that share phenotypes with PHACTR3: view

Animal Model Products

CRISPR Products

miRNA for PHACTR3 Gene

miRTarBase miRNAs that target PHACTR3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHACTR3 Gene

Localization for PHACTR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHACTR3 Gene

Nucleus matrix. Note=Localized to the nuclear matrix-intermediate filament scaffold. Isoform 2 is also found in some cytoplasmic extensions.

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 PHACTR3 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHACTR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with PHACTR3: view

Pathways & Interactions for PHACTR3 Gene

SuperPathways for PHACTR3 Gene

No Data Available

Interacting Proteins for PHACTR3 Gene

Gene Ontology (GO) - Biological Process for PHACTR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PHACTR3: view

No data available for Pathways by source and SIGNOR curated interactions for PHACTR3 Gene

Drugs & Compounds for PHACTR3 Gene

No Compound Related Data Available

Transcripts for PHACTR3 Gene

Unigene Clusters for PHACTR3 Gene

Phosphatase and actin regulator 3:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHACTR3 Gene

No ASD Table

Relevant External Links for PHACTR3 Gene

GeneLoc Exon Structure for
PHACTR3
ECgene alternative splicing isoforms for
PHACTR3

Expression for PHACTR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHACTR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHACTR3 Gene

This gene is overexpressed in Brain - Amygdala (x5.7), Brain - Hippocampus (x5.1), Brain - Spinal cord (cervical c-1) (x4.4), Brain - Substantia nigra (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for PHACTR3 Gene

This gene is overexpressed in Frontal cortex (35.7) and Fetal Brain (29.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHACTR3 Gene



Protein tissue co-expression partners for PHACTR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHACTR3 Gene:

PHACTR3

SOURCE GeneReport for Unigene cluster for PHACTR3 Gene:

Hs.473218

mRNA Expression by UniProt/SwissProt for PHACTR3 Gene:

Q96KR7-PHAR3_HUMAN
Tissue specificity: Abundantly expressed in brain. Also found in several tumors such as lung carcinomas, nervous tumors and HL-60 leukemia cells. Isoform 3 is the major form in U-937, GOTO and HL-60 leukemia cells.

Evidence on tissue expression from TISSUES for PHACTR3 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with PHACTR3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PHACTR3 Gene

Orthologs for PHACTR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHACTR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHACTR3 33 34
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia PHACTR3 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHACTR3 33 34
  • 87.6 (n)
mouse
(Mus musculus)
Mammalia Phactr3 33 16 34
  • 87.04 (n)
rat
(Rattus norvegicus)
Mammalia Phactr3 33
  • 86.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR3 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHACTR3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHACTR3 33 34
  • 73.39 (n)
lizard
(Anolis carolinensis)
Reptilia PHACTR3 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phactr3 33
  • 67.85 (n)
Str.15737 33
zebrafish
(Danio rerio)
Actinopterygii phactr3b 33 34
  • 63.74 (n)
phactr3a 34
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32264 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26H9.2 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9409 34
  • 45 (a)
ManyToMany
CSA.1850 34
  • 17 (a)
ManyToMany
Species where no ortholog for PHACTR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 PHACTR3 Gene

ENSEMBL:
Gene Tree for PHACTR3 (if available)
TreeFam:
Gene Tree for PHACTR3 (if available)

Paralogs for PHACTR3 Gene

Paralogs for PHACTR3 Gene

(2) SIMAP similar genes for PHACTR3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PHACTR3: view

Variants for PHACTR3 Gene

Sequence variations from dbSNP and Humsavar for PHACTR3 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000000282 -- 59,707,992(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000036420 -- 59,592,035(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000055493 -- 59,744,667(+) A/G intron_variant
rs1000070291 -- 59,765,256(+) G/A intron_variant
rs1000086368 -- 59,839,010(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PHACTR3 Gene

Variant ID Type Subtype PubMed ID
dgv1257e212 CNV loss 25503493
dgv1258e212 CNV loss 25503493
dgv4335n100 CNV loss 25217958
dgv659e201 CNV deletion 23290073
esv22391 CNV loss 19812545
esv2338184 CNV deletion 18987734
esv2663243 CNV deletion 23128226
esv2666676 CNV deletion 23128226
esv2676757 CNV deletion 23128226
esv2722636 CNV deletion 23290073
esv2722637 CNV deletion 23290073
esv2722638 CNV deletion 23290073
esv2722640 CNV deletion 23290073
esv2722641 CNV deletion 23290073
esv2763668 CNV loss 21179565
esv3350633 CNV insertion 20981092
esv3568082 CNV loss 25503493
esv3568083 CNV loss 25503493
esv3575375 CNV gain 25503493
esv3646233 CNV loss 21293372
esv992120 CNV deletion 20482838
nsv1065994 CNV loss 25217958
nsv1122035 CNV deletion 24896259
nsv1147247 CNV insertion 26484159
nsv3434 CNV insertion 18451855
nsv3435 CNV insertion 18451855
nsv459033 CNV loss 19166990
nsv472242 CNV novel sequence insertion 20440878
nsv520022 CNV loss 19592680
nsv586369 CNV loss 21841781

Variation tolerance for PHACTR3 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHACTR3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHACTR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHACTR3 Gene

Disorders for PHACTR3 Gene

Additional Disease Information for PHACTR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PHACTR3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHACTR3 Gene

Publications for PHACTR3 Gene

  1. Scapinin, a putative protein phosphatase-1 regulatory subunit associated with the nuclear nonchromatin structure. (PMID: 12925532) Sagara J … Taniguchi S (The Journal of biological chemistry 2003) 3 4 22 58
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Scapinin, the protein phosphatase 1 binding protein, enhances cell spreading and motility by interacting with the actin cytoskeleton. (PMID: 19158953) Sagara J … Taniguchi S (PloS one 2009) 3 22 58

Products for PHACTR3 Gene

Sources for PHACTR3 Gene

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