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Aliases for PYDC1 Gene

Aliases for PYDC1 Gene

  • Pyrin Domain Containing 1 2 3 5
  • Pyrin-Only Protein 1 3 4
  • PAAD-Only Protein 1 3 4
  • Cellular POP1 3 4
  • CPOP1 3 4
  • ASC2 3 4
  • POP1 3 4
  • PYC1 3 4
  • Pyrin Domain-Containing Protein 1 3
  • PYD (Pyrin Domain) Containing 1 3
  • ASCI 4

External Ids for PYDC1 Gene

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 Black Piedra and Listeriosis. Among its related pathways are Toll-like Receptor Signaling Pathway. An important paralog of this gene is PYCARD.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYDC1 Gene

Genomics for PYDC1 Gene

GeneHancer (GH) Regulatory Elements for PYDC1 Gene

Promoters and enhancers for PYDC1 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
GH16J031259 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 31.9 -42.9 -42919 1.5 EBF1 ELF1 ZFHX2 IKZF1 ETV6 PRDM10 IKZF2 RUNX3 EGR2 SPI1 ITGAM PYDC1 PYCARD PRSS36 PRSS8 ITGAX
GH16J031252 Enhancer 1.5 FANTOM5 Ensembl ENCODE 31.1 -36.5 -36539 1.8 PKNOX1 ATF1 ARNT TCF12 ZNF766 E2F8 FOS ATF7 NCOA1 ZNF592 PYDC1 PYCARD TRIM72 PRSS36 ITGAM ITGAX ZNF646 ZNF668 STX4 KAT8
GH16J031178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.4 +36.5 36525 4.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 FUS SETD1A SRCAP ZNF764 RNF40 ENSG00000260267 FBRS SMG1P5 ENSG00000260304 PRR14
GH16J031243 Enhancer 1 Ensembl ENCODE 29.6 -27.0 -26957 1 HDAC1 ATF1 PKNOX1 GATA2 ZFP91 ETV6 ATF7 IKZF2 SMARCA5 ZEB2 GC16P031275 PYDC1 PYCARD TRIM72 FUS PRSS8 ZNF764 ITGAM
GH16J031264 Enhancer 0.9 Ensembl ENCODE 32.8 -48.3 -48274 2.1 HDGF PKNOX1 BACH1 EBF1 BATF IRF4 RELA EED ATF7 FOSL2 PYDC1 PYCARD PRSS36 HSD3B7 ITGAM ITGAX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PYDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PYDC1 gene promoter:

Genomic Locations for PYDC1 Gene

Genomic Locations for PYDC1 Gene
chr16:31,215,962-31,217,359
(GRCh38/hg38)
Size:
1,398 bases
Orientation:
Minus strand
chr16:31,227,283-31,228,680
(GRCh37/hg19)

Genomic View for PYDC1 Gene

Genes around PYDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B2R8L4
    • Q8NFP8

    Protein attributes for PYDC1 Gene

    Size:
    89 amino acids
    Molecular mass:
    10107 Da
    Quaternary structure:
    • Interacts with PYCARD/ASC (via pyrin domain).

    Three dimensional structures from OCA and Proteopedia for PYDC1 Gene

neXtProt entry for PYDC1 Gene

Post-translational modifications for PYDC1 Gene

Other Protein References for PYDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PYDC1: view

No data available for 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

Gene Ontology (GO) - Molecular Function for PYDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12656673
genes like me logo Genes that share ontologies with PYDC1: view
genes like me logo Genes that share phenotypes with PYDC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYDC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , 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}.

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 PYDC1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PYDC1 Gene

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
genes like me logo Genes that share ontologies with PYDC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PYDC1 Gene

Pathways & Interactions for PYDC1 Gene

genes like me logo Genes that share pathways with PYDC1: view

Pathways by source for PYDC1 Gene

1 KEGG pathway for PYDC1 Gene

Gene Ontology (GO) - Biological Process for PYDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IDA 12656673
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
GO:0033209 tumor necrosis factor-mediated signaling pathway IDA 12656673
genes like me logo Genes that share ontologies with PYDC1: view

No data available for SIGNOR curated interactions for PYDC1 Gene

Drugs & Compounds for PYDC1 Gene

No Compound Related Data Available

Transcripts for PYDC1 Gene

mRNA/cDNA for PYDC1 Gene

(11) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PYDC1 Gene

PYD (pyrin domain) containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYDC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PYDC1 Gene

No ASD Table

Relevant External Links for PYDC1 Gene

GeneLoc Exon Structure for
PYDC1
ECgene alternative splicing isoforms for
PYDC1

Expression for PYDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Protein differential expression in normal tissues from HIPED for PYDC1 Gene

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



Protein tissue co-expression partners for PYDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PYDC1 Gene:

PYDC1

SOURCE GeneReport for Unigene cluster for PYDC1 Gene:

Hs.58314

mRNA 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(4.3)
  • Heart(4)
genes like me logo Genes that share expression patterns with PYDC1: view

Primer 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.

Orthologs for PYDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PYDC1 34 33
  • 98.88 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 25 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 23 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 17 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pycard 34
  • 12 (a)
OneToMany
Species where no ortholog for PYDC1 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)
  • 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 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 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
genes like me logo Genes that share paralogs with PYDC1: view

Variants for PYDC1 Gene

Sequence variations from dbSNP and Humsavar for PYDC1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000961838 -- 31,216,457(-) C/T intron_variant
rs1002294610 -- 31,215,490(-) G/A downstream_transcript_variant
rs1003355331 -- 31,219,064(-) C/A upstream_transcript_variant
rs1003471655 -- 31,218,571(-) A/G upstream_transcript_variant
rs1005139861 -- 31,216,840(-) G/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PYDC1 Gene

Variant ID Type Subtype PubMed ID
dgv4990n54 CNV gain 21841781

Variation tolerance for PYDC1 Gene

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 for PYDC1 Gene

Disorders for PYDC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PYDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
black piedra
listeriosis
  • infection by listeria monocytogenes
atrial septal defect 4
  • asd4
peptic ulcer perforation
  • acute peptic ulcer with perforation
- elite association - COSMIC cancer census association via MalaCards
Search PYDC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PYDC1

genes like me logo Genes that share disorders with PYDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYDC1 Gene

Publications for PYDC1 Gene

  1. 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 58
  2. 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 58
  3. 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 58
  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 58
  5. 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 58

Products for PYDC1 Gene

Sources for PYDC1 Gene

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