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Aliases for PYDC1 Gene
Aliases for PYDC1 Gene
External Ids for PYDC1 Gene
- HGNC: 30261
- Entrez Gene: 260434
- Ensembl: ENSG00000169900
- OMIM: 615700
- UniProtKB: Q8WXC3
Previous GeneCards Identifiers for PYDC1 Gene
- GC16M031135
- GC16M028788
Summaries for PYDC1 Gene
GeneCards Summary for PYDC1 Gene
PYDC1 (Pyrin Domain Containing 1) is a Protein Coding gene. Diseases associated with PYDC1 include Autosomal Dominant Non-Syndromic Intellectual Disability 8 and Listeriosis. Among its related pathways are NOD-like receptor signaling pathway. An important paralog of this gene is PYCARD.
UniProtKB/Swiss-Prot Summary for PYDC1 Gene
-
Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS.
Additional gene information for PYDC1 Gene
- HGNC(30261)
- Entrez Gene(260434)
- Ensembl(ENSG00000169900)
- OMIM(615700)
- UniProtKB(Q8WXC3)
- Open Targets Platform(ENSG00000169900)
- Search for PYDC1 at DataMed
- Search for PYDC1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYDC1 Gene
Genomics for PYDC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PYDC1 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 PYDC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYDC1
- Top Transcription factor binding sites by QIAGEN in the PYDC1 gene promoter:
-
- AhR
- AREB6
- En-1
- MIF-1
- NRSF form 1
- NRSF form 2
- Roaz
- RP58
- ZID
Genomic Locations for PYDC1 Gene
Genomic Locations for PYDC1 Gene
- chr16:31,215,962-31,217,135
- (GRCh38/hg38)
- Size:
- 1,174 bases
- Orientation:
- Minus strand
- chr16:31,227,283-31,228,680
- (GRCh37/hg19)
- Size:
- 1,398 bases
- Orientation:
- Minus strand
Genomic View for PYDC1 Gene
Genes around PYDC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
PYDC1 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 PYDC1 Gene
Proteins for PYDC1 Gene
-
Protein details for PYDC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WXC3-PYDC1_HUMAN
- Recommended name:
- Pyrin domain-containing protein 1
- Protein Accession:
- Q8WXC3
- B2R8L4
- Q8NFP8
Protein attributes for PYDC1 Gene
- Size:
- 89 amino acids
- Molecular mass:
- 10107 Da
- Quaternary structure:
-
- Interacts with PYCARD/ASC (via pyrin domain).
Protein Expression for PYDC1 Gene
Post-translational modifications for PYDC1 Gene
- Phosphorylated.
Other Protein References for PYDC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ASC2 Antibody
- Novus Biologicals Antibodies for PYDC1
-
Abcam antibodies for PYDC1
- Invitrogen Antibodies for PYDC1 (AFLGC-PYDC1)
-
Boster Bio Antibodies for PYDC1
Protein Products
-
OriGene Purified Proteins for PYDC1
- Search Origene for MassSpec and Protein Over-expression Lysates for PYDC1
- Origene Custom Protein Services for PYDC1
- Novus Biologicals lysates for PYDC1
- antibodies-online: Show 4 available PYDC1 Proteins ranked by validation data
- Compare Top PYDC1 Proteins
-
Quality Products:
-
ProSci Proteins for PYDC1
Assay Products
-
Signalway ELISA kits for PYDC1
No data available for DME Specific Peptides for PYDC1 Gene
Domains & Families for PYDC1 Gene
Gene Families for PYDC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PYDC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PYDC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Pyrin-only protein 1 (PYDC1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PYDC1 Gene
Function for PYDC1 Gene
Molecular function for PYDC1 Gene
- UniProtKB/Swiss-Prot Function:
- Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS.
Phenotypes From GWAS Catalog for PYDC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004197 | cysteine-type endopeptidase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12656673 |
Phenotypes for PYDC1 Gene
- GenomeRNAi human phenotypes for PYDC1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PYDC1 - Select products 50% OFF >
- * PYDC1 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 PYDC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PYDC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYDC1
miRNA for PYDC1 Gene
- miRTarBase miRNAs that target PYDC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYDC1
- Browse OriGene Inhibitory RNA Products For PYDC1
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Clone Products
- Applied Biological Materials (abm): Clones for PYDC1 - Select products 50% OFF >
- * PYDC1 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 PYDC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PYDC1
Cell Line Products
-
Horizon Cell Lines for PYDC1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYDC1 Gene
Localization for PYDC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PYDC1 Gene
- Cytoplasm. Note=Recruited to specks formed by PYCARD within the cytoplasm. {ECO:0000269 PubMed:17178784}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 12656673 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | 12656673 |
| GO:0008385 | IkappaB kinase complex | IDA | 12656673 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PYDC1 Gene
Pathways & Interactions for PYDC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NOD-like receptor signaling pathway | ||
Pathways by source for PYDC1 Gene
1 KEGG pathway for PYDC1 Gene
Interacting Proteins for PYDC1 Gene
GPS-Prot Interaction Network for PYDC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006469 | negative regulation of protein kinase activity | IDA | 12656673 |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0009968 | negative regulation of signal transduction | IEA | -- |
| GO:0010804 | negative regulation of tumor necrosis factor-mediated signaling pathway | IMP | 24871464 |
| GO:0032088 | NOT negative regulation of NF-kappaB transcription factor activity | IDA,IMP | 24871464 |
No data available for SIGNOR curated interactions for PYDC1 Gene
Transcripts for PYDC1 Gene
mRNA/cDNA for PYDC1 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302964 589 nts (view in UCSC)
- ENST00000568383 244 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PYDC1 - Select products 50% OFF >
- * PYDC1 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 PYDC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PYDC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYDC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYDC1
- Browse OriGene Inhibitory RNA Products For PYDC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYDC1
Clone Products
- Applied Biological Materials (abm): Clones for PYDC1 - Select products 50% OFF >
- * PYDC1 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 PYDC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PYDC1
Relevant External Links for PYDC1 Gene
- GeneLoc Exon Structure for
- PYDC1
Expression for PYDC1 Gene
mRNA differential expression in normal tissues according to GTEx for PYDC1 Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.5), Brain - Cerebellar Hemisphere (x7.3), Brain - Cerebellum (x6.4), Skin - Not Sun Exposed (Suprapubic) (x5.9), Brain - Amygdala (x5.6), and Brain - Nucleus accumbens (basal ganglia) (x5.3).
This gene is overexpressed in Breast (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PYDC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYDC1
SOURCE GeneReport for Unigene cluster for PYDC1 Gene:
Hs.58314mRNA Expression by UniProt/SwissProt for PYDC1 Gene:
Q8WXC3-PYDC1_HUMAN
Tissue specificity:
Predominantly expressed in monocytes, macrophages and granulocytes.
Evidence on tissue expression from TISSUES for PYDC1 Gene
- Nervous system(4.5)
- Heart(4.3)
- Skin(2.9)
- Muscle(2.3)
- Thyroid gland(2.2)
- Kidney(2.1)
- Blood(2.1)
Primer Products
-
OriGene qPCR primer pairs for PYDC1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYDC1 Gene
Orthologs for PYDC1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PYDC1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | pycard 31 |
|
OneToMany |
- Species where no ortholog for PYDC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- 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)
- Mouse (Mus musculus)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 PYDC1 Gene
- ENSEMBL:
- Gene Tree for PYDC1 (if available)
- TreeFam:
- Gene Tree for PYDC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PYDC1: view image
Paralogs for PYDC1 Gene
Paralogs for PYDC1 Gene
(3) SIMAP similar genes for PYDC1 Gene using alignment to 1 proteins:
- PYDC1_HUMAN
Variants for PYDC1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4990n54 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.23;
5.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PYDC1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PYDC1
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 PYDC1 Gene
Disorders for PYDC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autosomal dominant non-syndromic intellectual disability 8 |
|
|
| listeriosis |
|
|
| retinitis pigmentosa 23 |
|
|
| noonan syndrome 8 |
|
|
| retinitis pigmentosa 24 |
|
|
Search PYDC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PYDC1
No data available for UniProtKB/Swiss-Prot and Genatlas for PYDC1 Gene
Publications for PYDC1 Gene
- Structure and dynamics of ASC2, a pyrin domain-only protein that regulates inflammatory signaling. (PMID: 16905547) Natarajan A … Hill JM (The Journal of biological chemistry 2006) 2 3 4
- The PAAD/PYRIN-only protein POP1/ASC2 is a modulator of ASC-mediated nuclear-factor-kappa B and pro-caspase-1 regulation. (PMID: 12656673) Stehlik C … Reed JC (The Biochemical journal 2003) 2 3 4
- The CLRX.1/NOD24 (NLRP2P) pseudogene codes a functional negative regulator of NF-κB, pyrin-only protein 4. (PMID: 24871464) Porter KA … Harton JA (Genes and immunity 2014) 3 4
- 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
- PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. (PMID: 11786556) Manji GA … Bertin J (The Journal of biological chemistry 2002) 2 4
ExternalLinks
Products for PYDC1 Gene
- Custom Antibody ServicesOriGene Antibodies for PYDC1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene Custom Protein Services for PYDC1
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- High-throughput Antibody Production Service
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- Novus Biologicals lysates for PYDC1
- Browse Antibodies
- Browse Peptides and Proteins
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- Invitrogen Antibodies for PYDC1 (AFLGC-PYDC1)
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- VectorBuilder Stable cell line generation for PYDC1
- antibodies-online: Show 18 available PYDC1 Antibodies ranked by validation data
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- antibodies-online: Search results for available PYDC1 related products ranked by validation data
- antibodies-online: Show 4 available PYDC1 Proteins ranked by validation data
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- Custom Antibody Services
- ProSci Proteins for PYDC1
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- Boster Bio Antibodies for PYDC1
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Sources for PYDC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
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- (72) LifeMap
- (73) miRTarBase
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