Aliases for PPP4R3A Gene

Aliases for PPP4R3A Gene

  • Protein Phosphatase 4 Regulatory Subunit 3A 2 3 5
  • KIAA2010 2 3 4
  • Serine/Threonine-Protein Phosphatase 4 Regulatory Subunit 3A 3 4
  • PP4R3A 3 4
  • SMEK1 3 4
  • SMEK Homolog 1, Suppressor Of Mek1 (Dictyostelium) 2
  • Protein Phosphatase 4, Regulatory Subunit 3A 2
  • SMEK Homolog 1, Suppressor Of Mek1 3
  • SMEK Homolog 1 4
  • MSTP033 3
  • FLFL1 3
  • PP4R3 3
  • Smk-1 3
  • Smk1 3

External Ids for PPP4R3A Gene

Previous HGNC Symbols for PPP4R3A Gene

  • KIAA2010
  • SMEK1

Previous GeneCards Identifiers for PPP4R3A Gene

  • GC14M091458
  • GC14M092329
  • GC14M092425
  • GC14M092448
  • GC14M091459
  • GC14M091568
  • GC14M091685
  • GC14M091970
  • GC14M092230

Summaries for PPP4R3A Gene

GeneCards Summary for PPP4R3A Gene

PPP4R3A (Protein Phosphatase 4 Regulatory Subunit 3A) is a Protein Coding gene. Diseases associated with PPP4R3A include Spinal Muscular Atrophy, Type Iii. Among its related pathways are Integrated Breast Cancer Pathway and Glucagon signaling pathway. An important paralog of this gene is PPP4R3B.

UniProtKB/Swiss-Prot Summary for PPP4R3A Gene

  • Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair.

Additional gene information for PPP4R3A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP4R3A Gene

Genomics for PPP4R3A Gene

GeneHancer (GH) Regulatory Elements for PPP4R3A Gene

Promoters and enhancers for PPP4R3A 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 PPP4R3A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP4R3A

Genomic Locations for PPP4R3A Gene

Genomic Locations for PPP4R3A Gene
chr14:91,457,481-91,510,554
(GRCh38/hg38)
Size:
53,074 bases
Orientation:
Minus strand
chr14:91,923,955-91,976,898
(GRCh37/hg19)
Size:
52,944 bases
Orientation:
Minus strand

Genomic View for PPP4R3A Gene

Genes around PPP4R3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP4R3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP4R3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP4R3A Gene

Proteins for PPP4R3A Gene

  • Protein details for PPP4R3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IN85-P4R3A_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 4 regulatory subunit 3A
    Protein Accession:
    Q6IN85
    Secondary Accessions:
    • Q69YK6
    • Q86U23
    • Q86YI7
    • Q8IVG1
    • Q9H3F1
    • Q9H7U8
    • Q9NV01
    • Q9NWP1

    Protein attributes for PPP4R3A Gene

    Size:
    833 amino acids
    Molecular mass:
    95368 Da
    Quaternary structure:
    • Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R2-PPP4R3A. Interacts with PPP4C; the interaction requires PPP4R2.
    SequenceCaution:
    • Sequence=AAG39284.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAA91960.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91960.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305}; Sequence=BAB14877.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC23106.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP4R3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP4R3A Gene

Post-translational modifications for PPP4R3A Gene

  • Ubiquitination at Lys576 and Lys585
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP4R3A Gene

Domains & Families for PPP4R3A Gene

Gene Families for PPP4R3A Gene

Protein Domains for PPP4R3A Gene

Blocks:
  • Collagen triple helix repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPP4R3A Gene

GenScript: Design optimal peptide antigens:
  • SMEK homolog 1 (P4R3A_HUMAN)
  • SMEK1 protein (Q8N6W1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IN85

UniProtKB/Swiss-Prot:

P4R3A_HUMAN :
  • Belongs to the SMEK family.
Family:
  • Belongs to the SMEK family.
genes like me logo Genes that share domains with PPP4R3A: view

Function for PPP4R3A Gene

Molecular function for PPP4R3A Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair.

Phenotypes From GWAS Catalog for PPP4R3A Gene

genes like me logo Genes that share phenotypes with PPP4R3A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R3A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP4R3A Gene

Localization for PPP4R3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP4R3A Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Note=In interphase localized in the cytoplasm and in the nucleus (with higher levels). During metaphase located in pericentriolar regions.

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 PPP4R3A gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP4R3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PPP4R3A: view

Pathways & Interactions for PPP4R3A Gene

genes like me logo Genes that share pathways with PPP4R3A: view

Pathways by source for PPP4R3A Gene

1 BioSystems pathway for PPP4R3A Gene
1 KEGG pathway for PPP4R3A Gene

SIGNOR curated interactions for PPP4R3A Gene

Activates:

Gene Ontology (GO) - Biological Process for PPP4R3A Gene

None

Drugs & Compounds for PPP4R3A Gene

No Compound Related Data Available

Transcripts for PPP4R3A Gene

mRNA/cDNA for PPP4R3A Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 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 PPP4R3A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP4R3A Gene

No ASD Table

Relevant External Links for PPP4R3A Gene

GeneLoc Exon Structure for
PPP4R3A

Expression for PPP4R3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP4R3A

Evidence on tissue expression from TISSUES for PPP4R3A Gene

  • Nervous system(4.4)
  • Intestine(4.3)
  • Liver(4.3)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with PPP4R3A: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP4R3A Gene

Orthologs for PPP4R3A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP4R3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMEK1 31 30
  • 99.72 (n)
OneToMany
-- 31
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SMEK1 31 30
  • 95.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMEK1 31 30
  • 94.35 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMEK1 31
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smek1 31 30
  • 93.29 (n)
OneToOne
Ppp4r3a 17
oppossum
(Monodelphis domestica)
Mammalia SMEK1 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smek1 30
  • 92.36 (n)
chicken
(Gallus gallus)
Aves SMEK1 31 30
  • 85.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMEK1 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485426 30
  • 80.85 (n)
zebrafish
(Danio rerio)
Actinopterygii smek1 31 30
  • 74.37 (n)
OneToOne
wufj55c11 30
fruit fly
(Drosophila melanogaster)
Insecta flfl 31
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea smk-1 31 30
  • 51.68 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSY2 31
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06670 30
  • 48.13 (n)
rice
(Oryza sativa)
Liliopsida Os01g0337600 30
  • 49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Cin.4515 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC216.01c 30
  • 47.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11315 30
  • 43.37 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4515 30
Species where no ortholog for PPP4R3A 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP4R3A Gene

ENSEMBL:
Gene Tree for PPP4R3A (if available)
TreeFam:
Gene Tree for PPP4R3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP4R3A: view image

Paralogs for PPP4R3A Gene

Paralogs for PPP4R3A Gene

genes like me logo Genes that share paralogs with PPP4R3A: view

Variants for PPP4R3A Gene

Additional dbSNP identifiers (rs#s) for PPP4R3A Gene

Structural Variations from Database of Genomic Variants (DGV) for PPP4R3A Gene

Variant ID Type Subtype PubMed ID
esv2333297 CNV deletion 18987734
esv2555842 CNV deletion 19546169
esv2662799 CNV deletion 23128226
esv3635324 CNV loss 21293372
nsv472301 CNV novel sequence insertion 20440878

Variation tolerance for PPP4R3A Gene

Residual Variation Intolerance Score: 4.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP4R3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP4R3A

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 PPP4R3A Gene

Disorders for PPP4R3A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP4R3A Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, type iii
  • sma3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP4R3A

genes like me logo Genes that share disorders with PPP4R3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP4R3A Gene

Publications for PPP4R3A Gene

  1. Depletion of protein phosphatase 4 in human cells reveals essential roles in centrosome maturation, cell migration and the regulation of Rho GTPases. (PMID: 18487071) Martin-Granados C … Cohen PT (The international journal of biochemistry & cell biology 2008) 2 3 4 54
  2. A novel, evolutionarily conserved protein phosphatase complex involved in cisplatin sensitivity. (PMID: 16085932) Gingras AC … Aebersold R (Molecular & cellular proteomics : MCP 2005) 2 3 4 54
  3. A PP4-phosphatase complex dephosphorylates gamma-H2AX generated during DNA replication. (PMID: 18614045) Chowdhury D … Lieberman J (Molecular cell 2008) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for PPP4R3A Gene

Sources for PPP4R3A Gene