The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] See more...

Aliases for PWP1 Gene

Aliases for PWP1 Gene

  • PWP1 Homolog, Endonuclein 2 3 5
  • Periodic Tryptophan Protein 1 Homolog 3 4
  • Keratinocyte Protein IEF SSP 9502 3 4
  • Endonuclein 2 3
  • Nuclear Phosphoprotein Similar To S. Cerevisiae PWP1 3
  • PWP1 Homolog (S. Cerevisiae) 2
  • IEF-SSP-9502 3

External Ids for PWP1 Gene

Previous GeneCards Identifiers for PWP1 Gene

  • GC12P107190
  • GC12P107960
  • GC12P106582
  • GC12P108079
  • GC12P105139

Summaries for PWP1 Gene

Entrez Gene Summary for PWP1 Gene

  • The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for PWP1 Gene

PWP1 (PWP1 Homolog, Endonuclein) is a Protein Coding gene. Diseases associated with PWP1 include Pancreatic Adenocarcinoma.

UniProtKB/Swiss-Prot Summary for PWP1 Gene

  • Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309).

Gene Wiki entry for PWP1 Gene

Additional gene information for PWP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PWP1 Gene

Genomics for PWP1 Gene

GeneHancer (GH) Regulatory Elements for PWP1 Gene

Promoters and enhancers for PWP1 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 PWP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PWP1 gene promoter:
  • AML1a
  • AREB6
  • Brachyury
  • Evi-1
  • GATA-2
  • Nkx5-1
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for PWP1 Gene

Genomic Locations for PWP1 Gene
chr12:107,685,799-107,713,162
(GRCh38/hg38)
Size:
27,364 bases
Orientation:
Plus strand
chr12:108,079,509-108,106,944
(GRCh37/hg19)
Size:
27,436 bases
Orientation:
Plus strand

Genomic View for PWP1 Gene

Genes around PWP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PWP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PWP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PWP1 Gene

Proteins for PWP1 Gene

  • Protein details for PWP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13610-PWP1_HUMAN
    Recommended name:
    Periodic tryptophan protein 1 homolog
    Protein Accession:
    Q13610
    Secondary Accessions:
    • A8K3R6
    • Q7Z3X9

    Protein attributes for PWP1 Gene

    Size:
    501 amino acids
    Molecular mass:
    55828 Da
    Quaternary structure:
    • Associates with the RNA polymerase (Pol I) complex (PubMed:29065309). Interacts with POLR1E (PubMed:29065309).

    Alternative splice isoforms for PWP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PWP1 Gene

Post-translational modifications for PWP1 Gene

  • Ubiquitination at Lys376
  • Modification sites at PhosphoSitePlus

Other Protein References for PWP1 Gene

No data available for DME Specific Peptides for PWP1 Gene

Domains & Families for PWP1 Gene

Gene Families for PWP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PWP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51513, highly similar to Periodic tryptophan protein 1 homolog (B4DJV5_HUMAN)
  • Keratinocyte protein IEF SSP 9502 (PWP1_HUMAN)
  • PWP1 protein (Q05BL3_HUMAN)
  • PWP1 protein (Q6PIN4_HUMAN)
  • PWP1 protein (Q6PKI5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13610

UniProtKB/Swiss-Prot:

PWP1_HUMAN :
  • Belongs to the WD repeat PWP1 family.
Family:
  • Belongs to the WD repeat PWP1 family.
genes like me logo Genes that share domains with PWP1: view

Function for PWP1 Gene

Molecular function for PWP1 Gene

UniProtKB/Swiss-Prot Function:
Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309).

Phenotypes From GWAS Catalog for PWP1 Gene

Gene Ontology (GO) - Molecular Function for PWP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1990889 H4K20me3 modified histone binding IEA --
genes like me logo Genes that share ontologies with PWP1: view
genes like me logo Genes that share phenotypes with PWP1: view

Animal Models for PWP1 Gene

MGI Knock Outs for PWP1:
  • Pwp1 Pwp1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PWP1 Gene

miRTarBase miRNAs that target PWP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PWP1

Clone Products

  • Addgene plasmids for PWP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PWP1 Gene

Localization for PWP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PWP1 Gene

Nucleus. Nucleus, nucleolus. Chromosome. Note=Associates with chromatin regions of rDNA. {ECO:0000269 PubMed:29065309}.

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 PWP1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
mitochondrion 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PWP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,TAS 21873635
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA 29065309
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with PWP1: view

Pathways & Interactions for PWP1 Gene

PathCards logo

SuperPathways for PWP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PWP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated TAS 7828893
GO:0033140 negative regulation of peptidyl-serine phosphorylation of STAT protein IEA --
GO:0034773 histone H4-K20 trimethylation IEA --
GO:0042254 ribosome biogenesis IEA --
GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IDA 29065309
genes like me logo Genes that share ontologies with PWP1: view

No data available for Pathways by source and SIGNOR curated interactions for PWP1 Gene

Drugs & Compounds for PWP1 Gene

No Compound Related Data Available

Transcripts for PWP1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PWP1

Clone Products

  • Addgene plasmids for PWP1

Alternative Splicing Database (ASD) splice patterns (SP) for PWP1 Gene

No ASD Table

Relevant External Links for PWP1 Gene

GeneLoc Exon Structure for
PWP1
ECgene alternative splicing isoforms for
PWP1

Expression for PWP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PWP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PWP1 Gene

This gene is overexpressed in Lung (24.4) and Adrenal (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PWP1 Gene



Protein tissue co-expression partners for PWP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PWP1 Gene:

PWP1

SOURCE GeneReport for Unigene cluster for PWP1 Gene:

Hs.506652

mRNA Expression by UniProt/SwissProt for PWP1 Gene:

Q13610-PWP1_HUMAN
Tissue specificity: High levels seen in the placenta, skeletal muscle, kidney and pancreas while lower levels were seen in the heart, brain and lung.

Evidence on tissue expression from TISSUES for PWP1 Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Muscle(4.2)
  • Skin(3.5)
  • Lung(2.9)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with PWP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PWP1 Gene

Orthologs for PWP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PWP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PWP1 33 32
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PWP1 33 32
  • 93.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PWP1 33 32
  • 92.47 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 85 (a)
OneToMany
-- 33
  • 82 (a)
OneToMany
-- 33
  • 59 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pwp1 17 33 32
  • 84.8 (n)
rat
(Rattus norvegicus)
Mammalia Pwp1 32
  • 84.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PWP1 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PWP1 33 32
  • 72.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PWP1 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pwp1 32
  • 70.9 (n)
zebrafish
(Danio rerio)
Actinopterygii pwp1 33 32
  • 66.25 (n)
OneToOne
zgc56486 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004768 32
  • 49.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta nclb 33 32
  • 47.86 (n)
OneToOne
CG6751 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_JC8.2 32
  • 49.19 (n)
JC8.2 33 34
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PWP1 33 32
  • 49.34 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR078W 32
  • 47.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19515g 32
  • 47.61 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G35370 32
  • 49.13 (n)
rice
(Oryza sativa)
Liliopsida Os01g0924300 32
  • 50.61 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02729 32
  • 49.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1711.16 32
  • 48.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 33 (a)
OneToOne
Species where no ortholog for PWP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 PWP1 Gene

ENSEMBL:
Gene Tree for PWP1 (if available)
TreeFam:
Gene Tree for PWP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PWP1: view image

Paralogs for PWP1 Gene

No data available for Paralogs for PWP1 Gene

Variants for PWP1 Gene

Sequence variations from dbSNP and Humsavar for PWP1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000061216 -- 107,689,739(+) C/G intron_variant
rs1000076371 -- 107,693,991(+) A/G intron_variant
rs1000112495 -- 107,711,187(+) G/A intron_variant
rs1000156109 -- 107,701,361(+) C/T intron_variant
rs1000194906 -- 107,710,910(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PWP1 Gene

Variant ID Type Subtype PubMed ID
esv3630693 CNV loss 21293372
nsv1038935 CNV gain 25217958
nsv560091 CNV gain 21841781

Variation tolerance for PWP1 Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 69.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PWP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PWP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PWP1 Gene

Disorders for PWP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PWP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pancreatic adenocarcinoma
  • adenocarcinoma of the pancreas
- elite association - COSMIC cancer census association via MalaCards
Search PWP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PWP1

genes like me logo Genes that share disorders with PWP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PWP1 Gene

Publications for PWP1 Gene

  1. Cloning of a cDNA encoding a novel human nuclear phosphoprotein belonging to the WD-40 family. (PMID: 7828893) Honoré B … Celis JE (Gene 1994) 2 3 4 23 56
  2. PWP1 Mediates Nutrient-Dependent Growth Control through Nucleolar Regulation of Ribosomal Gene Expression. (PMID: 29065309) Liu Y … Hietakangas V (Developmental cell 2017) 3 4 56
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56
  4. Endonuclein is a cell cycle regulated WD-repeat protein that is up-regulated in adenocarcinoma of the pancreas. (PMID: 11850830) Honoré B … Vorum H (Oncogene 2002) 2 3 56
  5. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3 56

Products for PWP1 Gene

Sources for PWP1 Gene