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Aliases for PPP1CB Gene

Aliases for PPP1CB Gene

  • Protein Phosphatase 1 Catalytic Subunit Beta 2 3 5
  • Protein Phosphatase 1, Catalytic Subunit, Beta Isoform 2 3
  • Protein Phosphatase 1, Catalytic Subunit, Beta Isozyme 2 3
  • EC 3.1.3.16 4 56
  • PPP1CD 3 4
  • PP-1B 3 4
  • Serine/Threonine-Protein Phosphatase PP1-Beta Catalytic Subunit 3
  • Protein Phosphatase 1, Catalytic Subunit, Delta Isoform 3
  • Epididymis Secretory Sperm Binding Protein Li 80p 3
  • Protein Phosphatase 1-Delta 3
  • Protein Phosphatase 1-Beta 3
  • EC 3.1.3.53 4
  • HEL-S-80p 3
  • PP1beta 3
  • NSLH2 3
  • PP1B 3

External Ids for PPP1CB Gene

Previous GeneCards Identifiers for PPP1CB Gene

  • GC02P028895
  • GC02P029067
  • GC02P028949
  • GC02P028886
  • GC02P028829
  • GC02P028974

Summaries for PPP1CB Gene

Entrez Gene Summary for PPP1CB Gene

  • The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPP1CB Gene

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta) is a Protein Coding gene. Diseases associated with PPP1CB include Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 and Noonan Syndrome 1. Among its related pathways are Long-term potentiation and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include protein kinase binding and phosphatase activity. An important paralog of this gene is PPP1CA.

UniProtKB/Swiss-Prot for PPP1CB Gene

  • Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the Ser-418 residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208).

Tocris Summary for PPP1CB Gene

  • Protein Ser/Thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from serine and/or threonine residues by hydrolysis of phosphoric acid monoesters. They oppose the action of kinases and phosphorylases and are involved in signal transduction.

Gene Wiki entry for PPP1CB Gene

Additional gene information for PPP1CB Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1CB Gene

Genomics for PPP1CB Gene

GeneHancer (GH) Regulatory Elements for PPP1CB Gene

Promoters and enhancers for PPP1CB 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
GH02I028747 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.6 +0.5 505 9.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 PPP1CB LOC100505774 TRMT61B TOGARAM2 SPDYA ENSG00000230730 WDR43 FOSL2
GH02I028680 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.4 -68.7 -68714 5 PKNOX1 ATF1 ARNT NEUROD1 IRF4 TCF12 GATA2 ATF7 RUNX3 RXRA RNA5SP89 LOC105374384 PPP1CB LOC100505774 ENSG00000230730 FOSL2
GH02I028609 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -138.8 -138832 6.6 PKNOX1 SIN3A FEZF1 ZNF2 IRF4 BRCA1 GLIS2 FOS DEK TSHZ1 ENSG00000230730 SUPT7L PPP1CB LOC100505774 SPDYA PLB1 TRMT61B SNRPGP7
GH02I028713 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -35.6 -35649 5.4 PKNOX1 CLOCK ATF1 SIN3A FEZF1 ZNF2 BRCA1 YY1 GTF3C2 FOS TRMT61B FOSL2 PPP1CB ENSG00000230730 WDR43 RNA5SP89 LOC100505774
GH02I028705 Enhancer 1.1 Ensembl ENCODE 22.3 -43.0 -43021 6.4 FOXA2 ZBTB40 ZSCAN9 RAD21 RARA TCF12 SCRT2 FOS ATF7 THAP11 TRMT61B PPP1CB ENSG00000230730 SPDYA WDR43 RNA5SP89 LOC100505774
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP1CB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP1CB gene promoter:

Genomic Locations for PPP1CB Gene

Genomic Locations for PPP1CB Gene
chr2:28,751,640-28,802,940
(GRCh38/hg38)
Size:
51,301 bases
Orientation:
Plus strand
chr2:28,974,506-29,025,806
(GRCh37/hg19)

Genomic View for PPP1CB Gene

Genes around PPP1CB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1CB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1CB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1CB Gene

Proteins for PPP1CB Gene

  • Protein details for PPP1CB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62140-PP1B_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase PP1-beta catalytic subunit
    Protein Accession:
    P62140
    Secondary Accessions:
    • B2R5V4
    • D6W565
    • P37140
    • Q5U087
    • Q6FG45

    Protein attributes for PPP1CB Gene

    Size:
    327 amino acids
    Molecular mass:
    37187 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. The targeting or regulatory subunits determine the substrate specificity of PP1. PPP1R12A, PPP1R12B and PPP1R12C mediate binding to myosin. PPP1R3A (in skeletal muscle), PPP1R3B (in liver), PPP1R3C, PPP1R3D and PPP1R3F (in brain) mediate binding to glycogen. Part of a complex containing PPP1R15B, PP1 and NCK1/2 (By similarity). Component of the MLL5-L complex, at least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with PPP1R7 and PPP1R12C. PPP1R15A and PPP1R15B mediate binding to EIF2S1. Interacts with PPP1R16B. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R8. Interacts with TRIM28; the interaction is weak. Interacts with PPP1R12A and NUAK1; the interaction is direct. Interacts with FOXP3. Interacts with RRP1B (PubMed:20926688).

neXtProt entry for PPP1CB Gene

Selected DME Specific Peptides for PPP1CB Gene

P62140:
  • KIKYPENFF
  • RPTDVPD
  • TFGADVV
  • VVEDGYEFF
  • CSFQILK
  • DLLWSDP
  • YGFYDEC
  • FSAPNYCGEFDN
  • IFCCHGGLSP
  • ETICLLLAYK
  • RPVTPPR
  • NFFLLRGNHE
  • DLICRAH
  • GWGENDRGVS
  • LITRLLEVRGCRPGK
  • CGDIHGQ
  • DLLRLFEYGGFPP
  • GDYVDRG
  • VQMTEAEVRGLC
  • GLLCDLLW
  • DVVSKFLNRH
  • FTDCFNCLP
  • LLELEAP

Post-translational modifications for PPP1CB Gene

  • Ubiquitination at isoforms=25 and isoforms=303

Domains & Families for PPP1CB Gene

Gene Families for PPP1CB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P62140

UniProtKB/Swiss-Prot:

PP1B_HUMAN :
  • Belongs to the PPP phosphatase family. PP-1 subfamily.
Family:
  • Belongs to the PPP phosphatase family. PP-1 subfamily.
genes like me logo Genes that share domains with PPP1CB: view

Function for PPP1CB Gene

Molecular function for PPP1CB Gene

GENATLAS Biochemistry:
serine/threonine protein phosphatase 1,catalytic subunit,beta
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[Myosin light-chain] phosphate + H(2)O = [myosin light-chain] + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the toxins okadaic acid, tautomycin and microcystin Leu-Arg (By similarity). The phosphatase activity of the PPP1R15A-PP1 complex toward EIF2S1 is specifically inhibited by Salubrinal, a drug that protects cells from endoplasmic reticulum stress.
UniProtKB/Swiss-Prot Function:
Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the Ser-418 residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208).
UniProtKB/Swiss-Prot Induction:
Up-regulated in synovial fluid mononuclear cells and peripheral blood mononuclear cells from patients with rheumatoid arthritis.

Enzyme Numbers (IUBMB) for PPP1CB Gene

Phenotypes From GWAS Catalog for PPP1CB Gene

Gene Ontology (GO) - Molecular Function for PPP1CB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding IPI 11067852
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity ISS --
genes like me logo Genes that share ontologies with PPP1CB: view
genes like me logo Genes that share phenotypes with PPP1CB: view

Human Phenotype Ontology for PPP1CB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PPP1CB Gene

miRTarBase miRNAs that target PPP1CB

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1CB Gene

Localization for PPP1CB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1CB Gene

Cytoplasm. Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Highly mobile in cells and can be relocalized through interaction with targeting subunits. In the presence of PPP1R8 relocalizes from the nucleus to nuclear speckles. {ECO:0000269 PubMed:11739654}.

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 PPP1CB gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1CB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IDA,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PPP1CB: view

Pathways & Interactions for PPP1CB Gene

genes like me logo Genes that share pathways with PPP1CB: view

SIGNOR curated interactions for PPP1CB Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PPP1CB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0006470 protein dephosphorylation ISS --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with PPP1CB: view

Drugs & Compounds for PPP1CB Gene

(11) Drugs for PPP1CB Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cantharidin Approved, Investigational Pharma Inhibitor of protein phosphatases 1/2A 14
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
Manganese Approved Nutra 37

(4) Additional Compounds for PPP1CB Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
FK 506
104987-11-3

(4) Tocris Compounds for PPP1CB Gene

Compound Action Cas Number
Calcineurin Autoinhibitory Peptide Selective calcineurin inhibitor 148067-21-4
Cyclosporin A Calcineurin inhibitor 59865-13-3
FK 506 Potent calcineurin inhibitor; immunosuppressant 104987-11-3
INCA-6 Inhibitor of calcineurin-substrate association 3519-82-2

(3) ApexBio Compounds for PPP1CB Gene

Compound Action Cas Number
Cantharidin Inhibitor of protein phosphatases 1/2A 56-25-7
Microcystin-LR Inhibitor of protein phosphatase PP1/PP2A,potent and selective 101043-37-2
Sal 003 Cellular phosphatase complex inhibitor 1164470-53-4
genes like me logo Genes that share compounds with PPP1CB: view

Drug Products

Transcripts for PPP1CB Gene

Unigene Clusters for PPP1CB Gene

Protein phosphatase 1, catalytic subunit, beta isozyme:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1CB Gene

No ASD Table

Relevant External Links for PPP1CB Gene

GeneLoc Exon Structure for
PPP1CB
ECgene alternative splicing isoforms for
PPP1CB

Expression for PPP1CB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1CB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP1CB Gene



Protein tissue co-expression partners for PPP1CB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP1CB Gene:

PPP1CB

SOURCE GeneReport for Unigene cluster for PPP1CB Gene:

Hs.702907

Evidence on tissue expression from TISSUES for PPP1CB Gene

  • Nervous system(5)
  • Blood(4.3)
  • Lung(3.3)
  • Muscle(3.2)
  • Intestine(3.1)
  • Heart(2.9)
  • Kidney(2.7)
  • Eye(2.5)
  • Liver(2.5)
  • Spleen(2.3)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PPP1CB: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1CB Gene

Orthologs for PPP1CB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP1CB Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PPP1CB 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1CB 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP1CB 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia PPP1CB 33 34
  • 96.64 (n)
cow
(Bos Taurus)
Mammalia PPP1CB 33 34
  • 95.82 (n)
mouse
(Mus musculus)
Mammalia Ppp1cb 33 16 34
  • 94.6 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1cb 33
  • 93.88 (n)
chicken
(Gallus gallus)
Aves PPP1CB 33 34
  • 87.56 (n)
lizard
(Anolis carolinensis)
Reptilia PPP1CB 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1cb 33
  • 82.16 (n)
Str.106 33
zebrafish
(Danio rerio)
Actinopterygii ppp1cbl 34
  • 100 (a)
OneToOne
ppp1cb 33
  • 79.41 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Pp1-13C 35
  • 88 (a)
Pp1-87B 35
  • 88 (a)
Pp1alpha-96A 35
  • 85 (a)
Pp1-Y2 35
  • 74 (a)
flw 35 33 34
  • 71.44 (n)
PpY-55A 35
  • 63 (a)
PpN58A 35
  • 62 (a)
PpD5 35
  • 61 (a)
PpD6 35
  • 59 (a)
Pp1rY1 35
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003114 33
  • 69.83 (n)
worm
(Caenorhabditis elegans)
Secernentea gsp-1 33 34
  • 75.27 (n)
C25A6.1 35
  • 56 (a)
F25B3.4 35
  • 55 (a)
F52H3.6 35
  • 55 (a)
T03F1.5 35
  • 54 (a)
W09C3.6 35
  • 54 (a)
ZK354.9 35
  • 54 (a)
C34D4.2 35
  • 52 (a)
C47A4.3 35
  • 52 (a)
F23B12.1 35
  • 52 (a)
C09H5.7 35
  • 48 (a)
C23G10.1a 35
  • 48 (a)
C23G10.1b 35
  • 48 (a)
C24H11.1 35
  • 48 (a)
C24H11.2 35
  • 48 (a)
C06A1.3 35
  • 47 (a)
W03D8.2 35
  • 47 (a)
F58G1.3 35
  • 43 (a)
R13A5.11 35
  • 43 (a)
F22D6.9 35
  • 41 (a)
F49E11.7 35
  • 40 (a)
T25B9.2 35
  • 40 (a)
C27B7.6 35
  • 38 (a)
R08A2.2 35
  • 38 (a)
Y40H4A.2 35
  • 38 (a)
Y69E1A.4 35
  • 37 (a)
F42G8.8 35
  • 36 (a)
C30A5.4 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLC7 34
  • 81 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TOPP3 33
  • 68.8 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10387 33
rice
(Oryza sativa)
Liliopsida Os06g0164100 33
  • 68.28 (n)
Os.12164 33
Species where no ortholog for PPP1CB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PPP1CB Gene

ENSEMBL:
Gene Tree for PPP1CB (if available)
TreeFam:
Gene Tree for PPP1CB (if available)

Paralogs for PPP1CB Gene

Paralogs for PPP1CB Gene

(10) SIMAP similar genes for PPP1CB Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PPP1CB: view

Variants for PPP1CB Gene

Sequence variations from dbSNP and Humsavar for PPP1CB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs886037952 pathogenic, not provided, Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] 28,776,944(+) C/G coding_sequence_variant, missense_variant
rs886037953 likely-pathogenic, not provided, Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] 28,793,872(+) G/T coding_sequence_variant, missense_variant
rs886037954 pathogenic, not provided, Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506], Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] 28,783,934(+) A/C/T coding_sequence_variant, missense_variant
rs886037955 likely-pathogenic, pathogenic, not provided, Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] 28,793,938(+) G/A coding_sequence_variant, missense_variant
VAR_076840 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] p.Ala56Pro

Variation tolerance for PPP1CB Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1CB Gene

Human Gene Mutation Database (HGMD)
PPP1CB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1CB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPP1CB Gene

Disorders for PPP1CB Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP1CB Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PP1B_HUMAN
  • Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269 PubMed:27264673, ECO:0000269 PubMed:27681385, ECO:0000269 PubMed:27868344, ECO:0000269 PubMed:28211982}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PPP1CB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPP1CB: view

No data available for Genatlas for PPP1CB Gene

Publications for PPP1CB Gene

  1. Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton. (PMID: 11399775) Tan I … Leung T (The Journal of biological chemistry 2001) 3 4 22 58
  2. Molecular and linkage analysis of type-1 protein phosphatase catalytic beta-subunit gene: lack of evidence for its major role in insulin resistance in Pima Indians. (PMID: 7796987) Prochazka M … Bogardus C (Diabetologia 1995) 3 4 22 58
  3. Three genes for protein phosphatase 1 map to different human chromosomes: sequence, expression and gene localisation of protein serine/threonine phosphatase 1 beta (PPP1CB). (PMID: 8312365) Barker HM … Cohen PT (Biochimica et biophysica acta 1994) 2 3 4 58
  4. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. (PMID: 28211982) Bertola D … Kim C (American journal of medical genetics. Part A 2017) 3 4 58
  5. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. (PMID: 27264673) Gripp KW … Dobyns WB (American journal of medical genetics. Part A 2016) 3 4 58

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