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Aliases for PPP1R15B Gene

Aliases for PPP1R15B Gene

  • Protein Phosphatase 1 Regulatory Subunit 15B 2 3 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 15B 2 3
  • Protein Phosphatase 1, Regulatory Subunit 15B 2
  • MSSGM2 3
  • CREP 3

External Ids for PPP1R15B Gene

Previous GeneCards Identifiers for PPP1R15B Gene

  • GC01M202101
  • GC01M199833
  • GC01M200736
  • GC01M201552
  • GC01M201549
  • GC01M201104
  • GC01M202639
  • GC01M175537

Summaries for PPP1R15B Gene

Entrez Gene Summary for PPP1R15B Gene

  • This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]

GeneCards Summary for PPP1R15B Gene

PPP1R15B (Protein Phosphatase 1 Regulatory Subunit 15B) is a Protein Coding gene. Diseases associated with PPP1R15B include Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 and Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome. GO annotations related to this gene include protein serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot for PPP1R15B Gene

  • Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R15B Gene

Genomics for PPP1R15B Gene

Regulatory Elements for PPP1R15B Gene

Enhancers for PPP1R15B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F204415 1.6 FANTOM5 Ensembl ENCODE 47.5 -6.7 -6703 5.7 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF548 FOS PPP1R15B MDM4 GYG2P2 ZBED6 SNRPE PIK3C2B RBBP5 PRELP
GH01F204511 0.6 FANTOM5 ENCODE 37.1 -105.3 -105264 11.9 CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 MDM4 ZBED6 GYG2P2 SNRPE PPP1R15B PIK3C2B LOC101929459 ENSG00000236108 LOC105371691 RBBP5
GH01F205120 0.7 ENCODE 29.6 -710.0 -709981 2.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D GYG2P2 ELK4 MDM4 TMCC2 PPP1R15B LOC100420878 DSTYK LOC101929459 CNTN2 RPL13AP11
GH01F203860 0.5 ENCODE 28.5 +550.3 550262 2.9 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC SNRPE ZBED6 MDM4 PPP1R15B HNRNPA1P59 LOC100506747 PRELP LOC105371691 CYB5R1 LAX1
GH01F204405 1.3 FANTOM5 ENCODE 23.2 +1.5 1488 9.5 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 FOS PPP1R15B SNRPE ZBED6 MDM4 PIK3C2B ETNK2 GYG2P2 LRRN2 PIR38315 PIR42001
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPP1R15B on UCSC Golden Path with GeneCards custom track

Genomic Location for PPP1R15B Gene

Chromosome:
1
Start:
204,400,275 bp from pter
End:
204,411,817 bp from pter
Size:
11,543 bases
Orientation:
Minus strand

Genomic View for PPP1R15B Gene

Genes around PPP1R15B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R15B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R15B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R15B Gene

Proteins for PPP1R15B Gene

  • Protein details for PPP1R15B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SWA1-PR15B_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 15B
    Protein Accession:
    Q5SWA1
    Secondary Accessions:
    • Q53GQ4
    • Q658M2
    • Q6P156
    • Q96SN1

    Protein attributes for PPP1R15B Gene

    Size:
    713 amino acids
    Molecular mass:
    79152 Da
    Quaternary structure:
    • Part of a complex containing PPP1R15B, PP1 and NCK1/2 (By similarity). Interacts with PP1.
    Miscellaneous:
    • The phosphatase activity of the PPP1R15B-PP1 complex toward EIF2S1 is specifically inhibited by Salubrinal, a drug that protects cells from endoplasmic reticulum stress.

    Three dimensional structures from OCA and Proteopedia for PPP1R15B Gene

neXtProt entry for PPP1R15B Gene

Post-translational modifications for PPP1R15B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R15B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPP1R15B Gene

Domains & Families for PPP1R15B Gene

Gene Families for PPP1R15B Gene

Protein Domains for PPP1R15B Gene

Suggested Antigen Peptide Sequences for PPP1R15B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SWA1

UniProtKB/Swiss-Prot:

PR15B_HUMAN :
  • Belongs to the PPP1R15 family.
Family:
  • Belongs to the PPP1R15 family.
genes like me logo Genes that share domains with PPP1R15B: view

Function for PPP1R15B Gene

Molecular function for PPP1R15B Gene

UniProtKB/Swiss-Prot Function:
Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1.

Gene Ontology (GO) - Molecular Function for PPP1R15B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding IPI 15231748
genes like me logo Genes that share ontologies with PPP1R15B: view
genes like me logo Genes that share phenotypes with PPP1R15B: view

Animal Models for PPP1R15B Gene

MGI Knock Outs for PPP1R15B:

Animal Model Products

miRNA for PPP1R15B Gene

miRTarBase miRNAs that target PPP1R15B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R15B Gene

Localization for PPP1R15B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPP1R15B Gene COMPARTMENTS Subcellular localization image for PPP1R15B gene
Compartment Confidence
cytosol 2
golgi apparatus 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PPP1R15B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex ISS --
genes like me logo Genes that share ontologies with PPP1R15B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R15B Gene

Pathways & Interactions for PPP1R15B Gene

SuperPathways for PPP1R15B Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP1R15B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IMP 26307080
GO:0006417 regulation of translation IEA --
GO:0006979 response to oxidative stress IEA --
GO:0006983 ER overload response IEA --
GO:0034976 response to endoplasmic reticulum stress IEA --
genes like me logo Genes that share ontologies with PPP1R15B: view

No data available for Pathways by source and SIGNOR curated interactions for PPP1R15B Gene

Transcripts for PPP1R15B Gene

mRNA/cDNA for PPP1R15B Gene

Unigene Clusters for PPP1R15B Gene

Protein phosphatase 1, regulatory subunit 15B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R15B Gene

No ASD Table

Relevant External Links for PPP1R15B Gene

GeneLoc Exon Structure for
PPP1R15B
ECgene alternative splicing isoforms for
PPP1R15B

Expression for PPP1R15B Gene

mRNA expression in normal human tissues for PPP1R15B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R15B Gene

This gene is overexpressed in Pancreatic juice (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP1R15B Gene



Protein tissue co-expression partners for PPP1R15B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP1R15B Gene:

PPP1R15B

SOURCE GeneReport for Unigene cluster for PPP1R15B Gene:

Hs.304376
genes like me logo Genes that share expression patterns with PPP1R15B: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPP1R15B Gene

Orthologs for PPP1R15B Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R15B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R15B 34 35
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia PPP1R15B 34 35
  • 82.9 (n)
mouse
(Mus musculus)
Mammalia Ppp1r15b 34 16 35
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1r15b 34
  • 78.09 (n)
dog
(Canis familiaris)
Mammalia PPP1R15B 34 35
  • 77.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R15B 35
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP1R15B 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP1R15B 34 35
  • 59.47 (n)
lizard
(Anolis carolinensis)
Reptilia PPP1R15B 35
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PPP1R15B 35
  • 23 (a)
OneToOne
Species where no ortholog for PPP1R15B 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPP1R15B Gene

ENSEMBL:
Gene Tree for PPP1R15B (if available)
TreeFam:
Gene Tree for PPP1R15B (if available)

Paralogs for PPP1R15B Gene

No data available for Paralogs for PPP1R15B Gene

Variants for PPP1R15B Gene

Sequence variations from dbSNP and Humsavar for PPP1R15B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_074072 Microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817]
rs869025335 Pathogenic 204,406,262(-) AGGAT(C/T)GCAAA intron-variant, reference, missense
rs111227147 -- 204,402,542(+) AACTG(A/G)GTCTA intron-variant
rs111313903 -- 204,407,668(+) AAACG(A/T)ACAGT intron-variant
rs111350215 -- 204,399,558(+) GTCTC(-/A)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R15B Gene

Variant ID Type Subtype PubMed ID
nsv826409 CNV loss 20364138
nsv952641 CNV duplication 24416366

Variation tolerance for PPP1R15B Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP1R15B Gene

Human Gene Mutation Database (HGMD)
PPP1R15B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R15B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R15B Gene

Disorders for PPP1R15B Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPP1R15B Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PR15B_HUMAN
  • Microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817]: A disease characterized by microcephaly, mental retardation, short stature, and disturbed glucose metabolism. {ECO:0000269 PubMed:26159176, ECO:0000269 PubMed:26307080}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PPP1R15B

Genetic Association Database (GAD)
PPP1R15B
Human Genome Epidemiology (HuGE) Navigator
PPP1R15B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP1R15B
genes like me logo Genes that share disorders with PPP1R15B: view

No data available for Genatlas for PPP1R15B Gene

Publications for PPP1R15B Gene

  1. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly. (PMID: 26159176) Abdulkarim B. … Julier C. (Diabetes 2015) 3 4 64
  2. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability. (PMID: 26307080) Kernohan K.D. … Boycott K.M. (Hum. Mol. Genet. 2015) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution. (PMID: 11948623) Ceulemans H. … Bollen M. (Bioessays 2002) 2 3 64
  5. CIP2A regulates cancer metabolism and CREB phosphorylation in non-small cell lung cancer. (PMID: 25325377) Peng B. … Zhang J.Y. (Mol Biosyst 2015) 3 64

Products for PPP1R15B Gene

Sources for PPP1R15B Gene

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