PYDC1 pyrin domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PYDC1provided by HGNC
Official Full Name: pyrin domain containing 1provided by HGNC
Primary source: HGNC:HGNC:30261
See related: Ensembl:ENSG00000169900 MIM:615700; AllianceGenome:HGNC:30261
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASC2; POP1; PYC1; cPOP1
Summary: Predicted to enable cysteine-type endopeptidase activity. Involved in several processes, including negative regulation of tumor necrosis factor-mediated signaling pathway; regulation of gene expression; and tumor necrosis factor-mediated signaling pathway. Located in cytosol and nucleus. Part of IkappaB kinase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in skin (RPKM 1.7), brain (RPKM 0.2) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 16p11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31215962..31217135, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31603392..31604565, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31227283..31228456, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations.
Title: Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations.
PYDC1 expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Changes in the tertiary structure of mutated pyrin B30.2 domain interrupting the formation of the pyrin-caspase-1 complex are related to the manifestations of Mediterranean familial fever.
Title: [Influence of M680I and M694V mutations on pyrin's domain B30.2 tertiary structure and it's complex formation ability with caspase-1].
X-ray diffraction data were collected to a resolution of 3.6 A from a crystal belonging to the cubic space group P23 with unit-cell parameters a=b=c=94.12 A, alpha=beta=gamma=90.00 degrees .
Title: Crystallization and preliminary X-ray crystallographic studies of cPOP1.
NMR assignment of human ASC2, a self contained protein interaction domain involved in apoptosis and inflammation.
Title: NMR assignment of human ASC2, a self contained protein interaction domain involved in apoptosis and inflammation.
analysis of the 3D structure of human ASC2 protein involved in apoptosis and inflammation
Title: Determining the 3D structure of human ASC2 protein involved in apoptosis and inflammation.
ASC2 is a pyrin domain-only protein that regulates inflammatory signaling
Title: Structure and dynamics of ASC2, a pyrin domain-only protein that regulates inflammatory signaling.
POP1/ASC2 associates with ASC via PAAD-PAAD interactions and modulates NF-kappa B and pro-caspase-1 regulation by this adapter protein
Title: The PAAD/PYRIN-only protein POP1/ASC2 is a modulator of ASC-mediated nuclear-factor-kappa B and pro-caspase-1 regulation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103987 (e-PCR)
- UniSTS:98312

NoName (e-PCR)
- UniSTS:485779

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in negative regulation of NLRP3 inflammasome complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in negative regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of IkappaB kinase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pyrin domain-containing protein 1

Names: PAAD-only protein 1; PYD (pyrin domain) containing 1; cellular POP1; pyrin-only protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.