This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008] See more...

Aliases for PELO Gene

Aliases for PELO Gene

  • Pelota MRNA Surveillance And Ribosome Rescue Factor 2 3 5
  • Protein Pelota Homolog 3 4
  • Pelota (Drosophila) Homolog 2
  • Pelota Homolog (Drosophila) 2
  • Pelota Homolog 3
  • EC 3.1.-.- 4
  • PRO1770 3
  • CGI-17 3

External Ids for PELO Gene

Previous GeneCards Identifiers for PELO Gene

  • GC05P052248
  • GC05P053513
  • GC05P052054
  • GC05P052100
  • GC05P052101
  • GC05P052120
  • GC05P052084
  • GC05P049055

Summaries for PELO Gene

Entrez Gene Summary for PELO Gene

  • This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]

GeneCards Summary for PELO Gene

PELO (Pelota MRNA Surveillance And Ribosome Rescue Factor) is a Protein Coding gene. Diseases associated with PELO include Angiokeratoma Of Fordyce and Achenbach Syndrome. Among its related pathways are Focal Adhesion and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include endonuclease activity.

UniProtKB/Swiss-Prot Summary for PELO Gene

  • Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential).

Gene Wiki entry for PELO Gene

Additional gene information for PELO Gene

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

Genomics for PELO Gene

GeneHancer (GH) Regulatory Elements for PELO Gene

Promoters and enhancers for PELO 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
GH05J052786 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 516.4 +1.1 1085 4.8 CTCF SIN3A POLR2G NCOR1 TEAD4 EP300 ZIC2 POLR2A KDM6A ZBTB26 PELO ITGA1 piR-54653 ENSG00000248898
GH05J052797 Promoter/Enhancer 2 EPDnew ENCODE CraniofacialAtlas dbSUPER 516.1 +13.6 13589 7.9 EP300 ZNF217 TCF12 NRF1 POLR2G PHF8 TEAD4 ZFX ZNF639 ZBTB5 PELO piR-54653 ITGA1 ENSG00000248898
GH05J052809 Enhancer 1 Ensembl ENCODE dbSUPER 25.7 +22.0 21985 6.2 ZSCAN5C FOS EP300 ZNF341 OSR2 WT1 FOXA2 CTCF NR3C1 CEBPB PELO ITGA1 ENSG00000248898 piR-54653
GH05J052782 Enhancer 1 Ensembl ENCODE dbSUPER 16.4 -3.8 -3815 2.6 TCF12 ZNF10 FOXA2 CEBPG FOS FOSL2 CEBPB JUN STAT3 JUND PELO ITGA1 LOC105378964 ENSG00000248898
GH05J052723 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -61.3 -61258 5.5 EP300 DEK GATA3 GABPA BRCA1 CEBPB CHD2 JUND FOS MAX ITGA1 PELO ENSG00000248898 KR153194-154 LOC105378964 HSALNG0041747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PELO on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the PELO gene promoter:
  • AP-1
  • Evi-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • SRF
  • SRF (504 AA)

Genomic Locations for PELO Gene

Genomic Locations for PELO Gene
chr5:52,787,916-52,804,044
(GRCh38/hg38)
Size:
16,129 bases
Orientation:
Plus strand
chr5:52,083,774-52,099,880
(GRCh37/hg19)
Size:
16,107 bases
Orientation:
Plus strand

Genomic View for PELO Gene

Genes around PELO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PELO Gene

Proteins for PELO Gene

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

    Protein Symbol:
    Q9BRX2-PELO_HUMAN
    Recommended name:
    Protein pelota homolog
    Protein Accession:
    Q9BRX2
    Secondary Accessions:
    • Q9GZS6
    • Q9Y306

    Protein attributes for PELO Gene

    Size:
    385 amino acids
    Molecular mass:
    43359 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PELO Gene

neXtProt entry for PELO Gene

Post-translational modifications for PELO Gene

  • Ubiquitination at Lys46, Lys162, and Lys254
  • Modification sites at PhosphoSitePlus

Other Protein References for PELO Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PELO Gene

Domains & Families for PELO Gene

Gene Families for PELO Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PELO Gene

Suggested Antigen Peptide Sequences for PELO Gene

GenScript: Design optimal peptide antigens:
  • Protein pelota homolog (PELO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRX2

UniProtKB/Swiss-Prot:

PELO_HUMAN :
  • The N-terminal domain has the RNA-binding Sm fold. It may harbor the endoribonuclease activity (Potential).
  • Belongs to the eukaryotic release factor 1 family. Pelota subfamily.
Domain:
  • The N-terminal domain has the RNA-binding Sm fold. It may harbor the endoribonuclease activity (Potential).
Family:
  • Belongs to the eukaryotic release factor 1 family. Pelota subfamily.
genes like me logo Genes that share domains with PELO: view

Function for PELO Gene

Molecular function for PELO Gene

UniProtKB/Swiss-Prot Function:
Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential).

Enzyme Numbers (IUBMB) for PELO Gene

Phenotypes From GWAS Catalog for PELO Gene

Gene Ontology (GO) - Molecular Function for PELO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0005515 protein binding IPI 20406461
GO:0016787 hydrolase activity IEA --
GO:0043022 ribosome binding IBA 21873635
genes like me logo Genes that share ontologies with PELO: view
genes like me logo Genes that share phenotypes with PELO: view

Animal Models for PELO Gene

MGI Knock Outs for PELO:
  • Pelo Pelo<tm1Imad>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PELO

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PELO Gene

Localization for PELO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PELO Gene

Nucleus. Cytoplasm.

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 PELO gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PELO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with PELO: view

Pathways & Interactions for PELO Gene

PathCards logo

SuperPathways for PELO Gene

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

Pathways by source for PELO Gene

1 BioSystems pathway for PELO Gene
1 KEGG pathway for PELO Gene

Gene Ontology (GO) - Biological Process for PELO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001833 inner cell mass cell proliferation IEA --
GO:0007049 cell cycle IEA --
GO:0007492 endoderm development IEA --
GO:0019827 stem cell population maintenance IEA --
GO:0030513 positive regulation of BMP signaling pathway IEA --
genes like me logo Genes that share ontologies with PELO: view

No data available for SIGNOR curated interactions for PELO Gene

Drugs & Compounds for PELO Gene

No Compound Related Data Available

Transcripts for PELO Gene

mRNA/cDNA for PELO Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 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 PELO

Clone Products

  • Addgene plasmids for PELO

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2: - - - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: - - - - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PELO Gene

GeneLoc Exon Structure for
PELO

Expression for PELO Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PELO Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.8), Breast (8.4), and Pancreas (7.8).

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



Protein tissue co-expression partners for PELO Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for PELO Gene:

Hs.644352

mRNA Expression by UniProt/SwissProt for PELO Gene:

Q9BRX2-PELO_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PELO Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Blood(4.1)
  • Skin(4.1)
  • Kidney(3.1)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with PELO: view

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

Orthologs for PELO Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PELO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PELO 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PELO 31 30
  • 93.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PELO 30
  • 93.16 (n)
rat
(Rattus norvegicus)
Mammalia Pelo 30
  • 91.69 (n)
mouse
(Mus musculus)
Mammalia Pelo 17 31 30
  • 90.22 (n)
chicken
(Gallus gallus)
Aves PELO 30
  • 83.2 (n)
lizard
(Anolis carolinensis)
Reptilia PELO 31
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pelo 31 30
  • 72.38 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008269 30
  • 63.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta pelo 31 32 30
  • 63.41 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R74.6 31 32 30
  • 56.08 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOM34 33 31
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 70 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18B5.06 30
  • 52.41 (n)
Species where no ortholog for PELO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PELO Gene

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

Paralogs for PELO Gene

No data available for Paralogs for PELO Gene

Variants for PELO Gene

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

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs1499280 - p.Leu221Met

Additional dbSNP identifiers (rs#s) for PELO Gene

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

Variant ID Type Subtype PubMed ID
esv3894188 CNV gain 25118596
nsv1020640 CNV gain 25217958
nsv1027410 CNV gain 25217958
nsv462187 CNV gain 19166990
nsv471013 CNV gain 18288195
nsv598163 CNV gain 21841781
nsv830295 CNV gain 17160897

Variation tolerance for PELO Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PELO Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PELO Gene

MalaCards: The human disease database

(2) MalaCards diseases for PELO Gene - From: DISEASES

Disorder Aliases PubMed IDs
angiokeratoma of fordyce
  • fordyce angiokeratoma
achenbach syndrome
  • paroxysmal hematoma of the finger
- elite association - COSMIC cancer census association via MalaCards
Search PELO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PELO

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 PELO: view

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

Publications for PELO Gene

  1. Molecular cloning, expression and chromosome location of the human pelota gene PELO. (PMID: 11060452) Shamsadin R … Engel W (Cytogenetics and cell genetics 2000) 2 3 4 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. 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
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 54
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54

Products for PELO Gene

Sources for PELO Gene