Free for academic non-profit institutions. Other users need a Commercial license
Aliases for PELI1 Gene
Aliases for PELI1 Gene
External Ids for PELI1 Gene
- HGNC: 8827
- Entrez Gene: 57162
- Ensembl: ENSG00000197329
- OMIM: 614797
- UniProtKB: Q96FA3
Previous GeneCards Identifiers for PELI1 Gene
- GC02M064454
- GC02M064277
- GC02M064294
- GC02M064231
- GC02M064319
- GC02M064059
Summaries for PELI1 Gene
GeneCards Summary for PELI1 Gene
PELI1 (Pellino E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with PELI1 include Tyrosinemia, Type Iii. Among its related pathways are Diseases associated with the TLR signaling cascade and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is PELI2.
UniProtKB/Swiss-Prot Summary for PELI1 Gene
-
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates 'Lys-63'-linked ubiquitination of RIPK1 (PubMed:29883609).
Additional gene information for PELI1 Gene
- HGNC(8827)
- Entrez Gene(57162)
- Ensembl(ENSG00000197329)
- OMIM(614797)
- UniProtKB(Q96FA3)
- Open Targets Platform(ENSG00000197329)
- Monarch Initiative
- Search for PELI1 at DataMed
- Search for PELI1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PELI1 Gene
Genomics for PELI1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PELI1 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 PELI1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PELI1
- Top Transcription factor binding sites by QIAGEN in the PELI1 gene promoter:
-
- C/EBPalpha
- Cdc5
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Egr-4
- SRY
Genomic Locations for PELI1 Gene
Genomic Locations for PELI1 Gene
- chr2:64,092,652-64,144,421
- (GRCh38/hg38)
- Size:
- 51,770 bases
- Orientation:
- Minus strand
- chr2:64,319,786-64,371,605
- (GRCh37/hg19)
- Size:
- 51,820 bases
- Orientation:
- Minus strand
Genomic View for PELI1 Gene
Genes around PELI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p14 by HGNC
- 2p14 by Entrez Gene
- 2p14 by Ensembl
PELI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PELI1 Gene
Proteins for PELI1 Gene
-
Protein details for PELI1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96FA3-PELI1_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase pellino homolog 1
- Protein Accession:
- Q96FA3
- Q96SM0
- Q9GZY5
- Q9HCX0
Protein attributes for PELI1 Gene
- Size:
- 418 amino acids
- Molecular mass:
- 46286 Da
- Quaternary structure:
-
- Interacts with MAP3K7. Upon IL1B treatment, forms a complex with TRAF6, IRAK1, IRAK4 and MYD88; this complex recruits MAP3K7/TAK1, TAB1 and TAB2 to mediate NF-kappa-B activation. Direct binding of SMAD6 to PELI1 prevents the complex formation and hence negatively regulates IL1R-TLR signaling and eventually NF-kappa-B-mediated gene expression (PubMed:12496252, PubMed:12804775, PubMed:16951688). Interacts (via atypical FHA domain) with RIPK3; preferentially binds to the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Interacts with RIPK1 and IRAK1 (PubMed:29883609).
- SequenceCaution:
-
- Sequence=AAH11419.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55280.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for PELI1 Gene
Post-translational modifications for PELI1 Gene
- Phosphorylation by IRAK1 and IRAK4 enhances its E3 ligase activity.
- Sumoylated.
-
Ubiquitination at Lys266
- NX_Q96FA3 (NX_Q96FA3-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PELI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences PELI1 / Pellino 1 Antibody (LS-B6497) and PELI1 / Pellino 1 Antibody (LS-B8877)
- Novus Biologicals Antibodies for PELI1
-
Abcam antibodies for PELI1
- Invitrogen Antibodies for PELI1 (AFLGC-PELI1)
-
Boster Bio Antibodies for PELI1
-
Custom Antibody ServicesProSci Antibodies for PELI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PELI1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PELI1
- Origene Custom Protein Services for PELI1
- Sino Biological Recombinant Proteins for PELI1
- Sino Biological Cell Lysates for PELI1
-
Abcam proteins for PELI1
Assay Products
- antibodies-online: Show 11 available PELI1 Elisa Kits ranked by validation data
- Compare Top PELI1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PELI1 Gene
Domains & Families for PELI1 Gene
Gene Families for PELI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for PELI1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PELI1 Gene
- GenScript: Design optimal peptide antigens:
-
- Pellino-related intracellular-signaling molecule (PELI1_HUMAN)
- cDNA, FLJ92790, Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA (Q53T26_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96FA3- Family:
-
- Belongs to the pellino family.
Function for PELI1 Gene
Molecular function for PELI1 Gene
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates 'Lys-63'-linked ubiquitination of RIPK1 (PubMed:29883609).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:29883609};.
Enzyme Numbers (IUBMB) for PELI1 Gene
Phenotypes From GWAS Catalog for PELI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12496252 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0034450 | ubiquitin-ubiquitin ligase activity | TAS | -- |
| GO:0061630 | ubiquitin protein ligase activity | IBA,IDA | 29883609 |
Phenotypes for PELI1 Gene
- MGI mutant phenotypes for PELI1:
-
inferred from 3 alleles
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for PELI1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Inconclusive
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased IL-8 secretion
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
Animal Models for PELI1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PELI1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PELI1 - Select products 50% OFF >
- * PELI1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PELI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PELI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PELI1
miRNA for PELI1 Gene
- miRTarBase miRNAs that target PELI1
-
- mmu-miR-21a-5p (MIRT000605)
- hsa-miR-155-5p (MIRT005096)
- rno-miR-21-5p (MIRT005912)
- mmu-miR-425-5p (MIRT008789)
- mmu-miR-30e-5p (MIRT013491)
- mmu-miR-124-3p (MIRT015903)
- hsa-miR-374b-5p (MIRT016081)
- hsa-miR-340-5p (MIRT019644)
- hsa-miR-21-5p (MIRT031077)
- hsa-miR-296-3p (MIRT038510)
- hsa-miR-106a-5p (MIRT048318)
- hsa-miR-17-5p (MIRT050853)
- hsa-miR-374a-5p (MIRT389205)
- hsa-miR-578 (MIRT655289)
- hsa-miR-6794-3p (MIRT655290)
- hsa-miR-668-3p (MIRT655291)
- hsa-miR-6845-3p (MIRT655292)
- hsa-miR-4639-3p (MIRT655293)
- hsa-miR-224-5p (MIRT655294)
- hsa-miR-548e-5p (MIRT655295)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PELI1
- Browse OriGene Inhibitory RNA Products For PELI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI1
Clone Products
- Applied Biological Materials (abm): Clones for PELI1 - Select products 50% OFF >
- * PELI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PELI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PELI1
Cell Line Products
-
Horizon Cell Lines for PELI1
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PELI1 Gene
Localization for PELI1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Intermediate filaments (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000778 | condensed nuclear chromosome kinetochore | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PELI1 Gene
Pathways & Interactions for PELI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated TLR4 signalling | ||
| 2 | Cytokine Signaling in Immune system | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | IL-1 signaling pathway | ||
| 5 | Diseases associated with the TLR signaling cascade | ||
Pathways by source for PELI1 Gene
2 BioSystems pathways for PELI1 Gene
21 Reactome pathways for PELI1 Gene
1 Cell Signaling Technology pathway for PELI1 Gene
UniProtKB/Swiss-Prot Q96FA3-PELI1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for PELI1 Gene
Selected Interacting proteins:
Q96FA3-PELI1_HUMAN
ENSP00000351789
for PELI1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PELI1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IBA | 21873635 |
| GO:0001819 | positive regulation of cytokine production | IEA | -- |
| GO:0008063 | Toll signaling pathway | IBA | 21873635 |
| GO:0008592 | regulation of Toll signaling pathway | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
Transcripts for PELI1 Gene
mRNA/cDNA for PELI1 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000358912 3716 nts (view in UCSC)
- ENST00000466177 698 nts (view in UCSC)
- ENST00000468869 553 nts (view in UCSC)
- ENST00000494203 602 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PELI1 - Select products 50% OFF >
- * PELI1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PELI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PELI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PELI1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PELI1
- Browse OriGene Inhibitory RNA Products For PELI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI1
Clone Products
- Applied Biological Materials (abm): Clones for PELI1 - Select products 50% OFF >
- * PELI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PELI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PELI1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | ||||||||||||||||||||||||||
| SP8: |
Relevant External Links for PELI1 Gene
- GeneLoc Exon Structure for
- PELI1
Expression for PELI1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
- Granulocytes Peripheral Blood
- Brain (Nervous System)
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for PELI1 Gene
This gene is overexpressed in Whole Blood (x5.8).
This gene is overexpressed in Adipocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PELI1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PELI1
SOURCE GeneReport for Unigene cluster for PELI1 Gene:
Hs.7886mRNA Expression by UniProt/SwissProt for PELI1 Gene:
Q96FA3-PELI1_HUMAN
Tissue specificity:
Expressed at high levels in normal skin but decreased in keratinocytes from toxic epidermal necrolysis (TEN) patients (at protein level).
Evidence on tissue expression from TISSUES for PELI1 Gene
- Nervous system(4.4)
- Blood(2.7)
- Bone marrow(2.6)
- Lymph node(2.3)
- Spleen(2.2)
Primer Products
-
OriGene qPCR primer pairs for PELI1
-
OriGene qPCR primer pairs and template standards for PELI1
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PELI1 Gene
Orthologs for PELI1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PELI1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PELI1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PELI1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PELI1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PELI1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Peli1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Peli1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | PELI1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PELI1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | peli2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | peli1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | peli1b 30 31 |
|
OneToMany | |
| peli1a 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pli 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | F25B4.2 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PELI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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 Vase (Ciona intestinalis)
- 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)
- Wheat (Triticum aestivum)
Evolution for PELI1 Gene
- ENSEMBL:
- Gene Tree for PELI1 (if available)
- TreeFam:
- Gene Tree for PELI1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PELI1: view image
Paralogs for PELI1 Gene
Variants for PELI1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv151e55 | CNV | gain | 17911159 |
| dgv3861n100 | CNV | gain | 25217958 |
| dgv705e214 | CNV | gain | 21293372 |
| esv2759055 | CNV | gain | 17122850 |
| esv29437 | CNV | gain | 19812545 |
| esv3302963 | CNV | tandem duplication | 20981092 |
| nsv1006553 | CNV | gain | 25217958 |
| nsv1013132 | CNV | loss | 25217958 |
| nsv428396 | CNV | gain | 18775914 |
| nsv582126 | CNV | gain | 21841781 |
| nsv582127 | CNV | gain | 21841781 |
| nsv7313 | OTHER | inversion | 18451855 |
| nsv834243 | CNV | gain+loss | 17160897 |
| nsv9957 | CNV | gain | 18304495 |
Residual Variation Intolerance Score:
12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.45;
9.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PELI1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PELI1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PELI1 Gene
Disorders for PELI1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tyrosinemia, type iii |
|
|
Search PELI1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PELI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PELI1 Gene
Publications for PELI1 Gene
- Assignment of homologous genes, Peli1/PELI1 and Peli2/PELI2, for the Pelle adaptor protein Pellino to mouse chromosomes 11 and 14 and human chromosomes 2p13.3 and 14q21, respectively, by physical and radiation hybrid mapping. (PMID: 11306823) Resch K … Schmitt-John T (Cytogenetics and cell genetics 2001) 2 3 4 23
- The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1. (PMID: 17997719) Ordureau A … Cohen P (The Biochemical journal 2008) 3 4 23
- Kinase-active interleukin-1 receptor-associated kinases promote polyubiquitination and degradation of the Pellino family: direct evidence for PELLINO proteins being ubiquitin-protein isopeptide ligases. (PMID: 17675297) Butler MP … Moynagh PN (The Journal of biological chemistry 2007) 3 4 23
- Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PMID: 16951688) Choi KC … Park SH (Nature immunology 2006) 2 3 4
- Pellino 1 is required for interleukin-1 (IL-1)-mediated signaling through its interaction with the IL-1 receptor-associated kinase 4 (IRAK4)-IRAK-tumor necrosis factor receptor-associated factor 6 (TRAF6) complex. (PMID: 12496252) Jiang Z … Li X (The Journal of biological chemistry 2003) 3 4 23
ExternalLinks
Products for PELI1 Gene
- Custom Antibody ServicesOriGene Antibodies for PELI1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PELI1
- Origene Custom Protein Services for PELI1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PELI1
- Browse OriGene Inhibitory RNA Products For PELI1
- OriGene qPCR primer pairs for PELI1
- OriGene qPCR primer pairs and template standards for PELI1
- OriGene CRISPR knockouts for PELI1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PELI1
- Sino Biological Human cDNA Clone for PELI1
- Sino Biological Recombinant Proteins for PELI1
- Sino Biological Cell Lysates for PELI1
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PELI1
- Novus Biologicals proteins and lysates for PELI1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PELI1
- Abcam proteins for PELI1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for PELI1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PELI1 (AFLGC-PELI1)
- VectorBuilder Custom and pre-made DNA vectors for PELI1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PELI1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PELI1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PELI1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PELI1
- antibodies-online: Show 21 available PELI1 Antibodies ranked by validation data
- Compare Top PELI1 Antibodies
- antibodies-online: Show 11 available PELI1 Elisa Kits ranked by validation data
- Compare Top PELI1 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available PELI1 Proteins ranked by validation data
- Compare Top PELI1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PELI1
- Search Santa Cruz Biotechnology (SCBT) for PELI1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PELI1
- Custom Antibody ServicesProSci Antibodies for PELI1
- Search for PELI1 Proteins at ProSci
- Horizon Cell Lines for PELI1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PELI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PELI1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PELI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI1
- Boster Bio Antibodies for PELI1
- Browse Boster Bio ELISA Kits
Sources for PELI1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB