This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] See more...

Aliases for PPP1R7 Gene

Aliases for PPP1R7 Gene

  • Protein Phosphatase 1 Regulatory Subunit 7 2 3 4 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 7 2 3
  • Protein Phosphatase 1 Regulatory Subunit 22 3 4
  • SDS22 3 4
  • Testis Secretory Sperm-Binding Protein Li 210a 3
  • Protein Phosphatase 1, Regulatory Subunit 7 2
  • PPP1R7 5
  • Sds22 2

External Ids for PPP1R7 Gene

Previous GeneCards Identifiers for PPP1R7 Gene

  • GC02M239317
  • GC02M240174
  • GC02P242108
  • GC02P242409
  • GC02P242410
  • GC02P241809
  • GC02P241737
  • GC02P233846
  • GC02P242088

Summaries for PPP1R7 Gene

Entrez Gene Summary for PPP1R7 Gene

  • This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for PPP1R7 Gene

PPP1R7 (Protein Phosphatase 1 Regulatory Subunit 7) is a Protein Coding gene. Diseases associated with PPP1R7 include Western Equine Encephalitis and Ciliary Dyskinesia, Primary, 1. Among its related pathways are Beta-Adrenergic Signaling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include enzyme regulator activity. An important paralog of this gene is ANO2.

UniProtKB/Swiss-Prot Summary for PPP1R7 Gene

Gene Wiki entry for PPP1R7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R7 Gene

Genomics for PPP1R7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R7 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 PPP1R7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R7

Top Transcription factor binding sites by QIAGEN in the PPP1R7 gene promoter:
  • AML1a
  • AREB6
  • c-Myb
  • Egr-2
  • NF-1
  • NF-1/L
  • Pax-5

Genomic Locations for PPP1R7 Gene

Latest Assembly
chr2:241,149,573-241,183,652
(GRCh38/hg38)
Size:
34,080 bases
Orientation:
Plus strand

Previous Assembly
chr2:242,088,988-242,123,067
(GRCh37/hg19 by Entrez Gene)
Size:
34,080 bases
Orientation:
Plus strand

chr2:242,088,991-242,123,067
(GRCh37/hg19 by Ensembl)
Size:
34,077 bases
Orientation:
Plus strand

Genomic View for PPP1R7 Gene

Genes around PPP1R7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R7 Gene

Proteins for PPP1R7 Gene

  • Protein details for PPP1R7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15435-PP1R7_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 7
    Protein Accession:
    Q15435
    Secondary Accessions:
    • B4DFD4
    • B5MCY6
    • Q9UQE5
    • Q9UQE6
    • Q9Y6K4

    Protein attributes for PPP1R7 Gene

    Size:
    360 amino acids
    Molecular mass:
    41564 Da
    Quaternary structure:
    • Interacts with PPP1CA, PPP1CB and PPP1CC/PPP1G isoform 1.

    Three dimensional structures from OCA and Proteopedia for PPP1R7 Gene

    Alternative splice isoforms for PPP1R7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R7 Gene

Post-translational modifications for PPP1R7 Gene

  • Ubiquitination at Lys90, Lys111, Lys162, Lys168, Lys175, Lys178, Lys222, and Lys244
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP1R7 Gene

Domains & Families for PPP1R7 Gene

Gene Families for PPP1R7 Gene

Protein Domains for PPP1R7 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Leucine-rich-associated

Suggested Antigen Peptide Sequences for PPP1R7 Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1 regulatory subunit 22 (PP1R7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15435

UniProtKB/Swiss-Prot:

PP1R7_HUMAN :
  • Belongs to the SDS22 family.
Family:
  • Belongs to the SDS22 family.
genes like me logo Genes that share domains with PPP1R7: view

Function for PPP1R7 Gene

Molecular function for PPP1R7 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of protein phosphatase 1.
GENATLAS Biochemistry:
protein phosphatase 1,41.6kDa,regulatory subunit 7,yeast sds 22 homolog

Phenotypes From GWAS Catalog for PPP1R7 Gene

Gene Ontology (GO) - Molecular Function for PPP1R7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 23414517
GO:0019888 protein phosphatase regulator activity TAS 7498485
GO:0030234 enzyme regulator activity NAS 10231361
genes like me logo Genes that share ontologies with PPP1R7: view
genes like me logo Genes that share phenotypes with PPP1R7: view

miRNA for PPP1R7 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R7 Gene

Localization for PPP1R7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R7 Gene

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 PPP1R7 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP1R7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,HDA 21630459
GO:0005694 chromosome IDA 22801782
GO:0005737 cytoplasm TAS 7498485
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PPP1R7: view

Pathways & Interactions for PPP1R7 Gene

PathCards logo

SuperPathways for PPP1R7 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Beta-Adrenergic Signaling
.37
.37
.37
.36
3 mTOR Pathway
4 GPCR Pathway
.58
5 Dopamine-DARPP32 Feedback onto cAMP Pathway
-
genes like me logo Genes that share pathways with PPP1R7: view

Pathways by source for PPP1R7 Gene

1 Tocris pathway for PPP1R7 Gene
14 Qiagen pathways for PPP1R7 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for PPP1R7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035307 positive regulation of protein dephosphorylation IMP 22801782
GO:0043666 regulation of phosphoprotein phosphatase activity IEA --
GO:0050790 regulation of catalytic activity IEA --
GO:0061588 calcium activated phospholipid scrambling IEA --
genes like me logo Genes that share ontologies with PPP1R7: view

No data available for SIGNOR curated interactions for PPP1R7 Gene

Drugs & Compounds for PPP1R7 Gene

No Compound Related Data Available

Transcripts for PPP1R7 Gene

mRNA/cDNA for PPP1R7 Gene

7 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R7

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - - -
SP8: -
SP9: - - - - -
SP10: - - -
SP11: - -
SP12: - - - -
SP13: - -

Relevant External Links for PPP1R7 Gene

GeneLoc Exon Structure for
PPP1R7

Expression for PPP1R7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R7 Gene

This gene is overexpressed in Skin (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R7 Gene



Protein tissue co-expression partners for PPP1R7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R7

SOURCE GeneReport for Unigene cluster for PPP1R7 Gene:

Hs.36587

mRNA Expression by UniProt/SwissProt for PPP1R7 Gene:

Q15435-PP1R7_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PPP1R7 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Lung(3)
  • Skin(2.5)
  • Kidney(2.3)
  • Muscle(2.3)
  • Heart(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PPP1R7: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R7 Gene

Orthologs for PPP1R7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP1R7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R7 29 30
  • 99.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R7 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R7 29
  • 91.3 (n)
-- 30
  • 84 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PPP1R7 29 30
  • 88.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r7 29
  • 88.33 (n)
Mouse
(Mus musculus)
Mammalia Ppp1r7 29 16 30
  • 88.06 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PPP1R7 29 30
  • 78.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R7 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp1r7 29
  • 67.92 (n)
Str.6727 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.19668 29
Zebrafish
(Danio rerio)
Actinopterygii ppp1r7 29 30
  • 70.51 (n)
OneToOne
Dr.4202 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.185 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009839 29
  • 58.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta sds22 29 30 31
  • 55.98 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T09A5.9 29 31
  • 52.68 (n)
sds-22 30
  • 45 (a)
OneToMany
C06A8.6 30 31
  • 40 (a)
OneToMany
K10D2.8 30
  • 36 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER104W 29
  • 54.21 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02816g 29
  • 53.36 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 29 30 32
  • 51.44 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G19680 29
  • 49.88 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0230100 29
  • 48.98 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5923 30
  • 61 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU08385 29
  • 55.6 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sds22 29
  • 51.43 (n)
Species where no ortholog for PPP1R7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PPP1R7 Gene

ENSEMBL:
Gene Tree for PPP1R7 (if available)
TreeFam:
Gene Tree for PPP1R7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R7: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R7

Paralogs for PPP1R7 Gene

Paralogs for PPP1R7 Gene

(2) SIMAP similar genes for PPP1R7 Gene using alignment to 9 proteins:

  • PP1R7_HUMAN
  • B5MBZ8_HUMAN
  • B5MCY6_HUMAN
  • C9J177_HUMAN
  • C9JD73_HUMAN
  • C9JRC4_HUMAN
  • H7C003_HUMAN
  • H7C118_HUMAN
  • H7C3Q5_HUMAN
genes like me logo Genes that share paralogs with PPP1R7: view

Variants for PPP1R7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R7 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs113069444 Benign: not provided 241,182,715(+) A/G
NM_002712.3(PPP1R7):c.975A>G (p.Thr325=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP1R7 Gene

Variant ID Type Subtype PubMed ID
esv2423265 CNV insertion 19546169
esv26576 CNV loss 19812545
esv3397077 CNV duplication 20981092
esv3575345 CNV gain 25503493
nsv3241 CNV insertion 18451855
nsv508900 CNV insertion 20534489
nsv512791 CNV insertion 21212237

Variation tolerance for PPP1R7 Gene

Residual Variation Intolerance Score: 49.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R7
Leiden Open Variation Database (LOVD)
PPP1R7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R7 Gene

Disorders for PPP1R7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP1R7 Gene - From: COP

Disorder Aliases PubMed IDs
western equine encephalitis
  • wee
ciliary dyskinesia, primary, 1
  • cild1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R7

genes like me logo Genes that share disorders with PPP1R7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R7 Gene

Publications for PPP1R7 Gene

  1. Structure and splice products of the human gene encoding sds22, a putative mitotic regulator of protein phosphatase-1. (PMID: 10231361) Ceulemans H … Bollen M (European journal of biochemistry 1999) 2 3 4 22
  2. Molecular cloning of a human polypeptide related to yeast sds22, a regulator of protein phosphatase-1. (PMID: 7498485) Renouf S … Bollen M (FEBS letters 1995) 2 3 4
  3. A complex of catalytically inactive protein phosphatase-1 sandwiched between Sds22 and inhibitor-3. (PMID: 17630778) Lesage B … Bollen M (Biochemistry 2007) 3 22
  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
  5. Binding of the concave surface of the Sds22 superhelix to the alpha 4/alpha 5/alpha 6-triangle of protein phosphatase-1. (PMID: 12226088) Ceulemans H … Bollen M (The Journal of biological chemistry 2002) 3 4

Products for PPP1R7 Gene

Sources for PPP1R7 Gene