ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PYDC1
Symbol Alias	ASC2, POP1
Approved Name	PYD (pyrin domain) containing 1
Previous Name	pyrin domain containing 1
Location	16p11.2
Position	chr16:31227283-31228414, -
External Links	HGNC: 30261 Entrez Gene: 260434 Ensembl: ENSG00000169900 UCSC: uc002ebo.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0045087	innate immune response	Biological Process	IDA[12656673]	54
GO:0004197	cysteine-type endopeptidase activity	Molecular Function		17
GO:0050718	positive regulation of interleukin-1 beta secretion	Biological Process	IDA[12656673]	5
GO:0005515	protein binding	Molecular Function	IPI[12656673]	910
GO:0005634	nucleus	Cellular Component	IDA[12656673]	770
GO:0005829	cytosol	Cellular Component	IDA[12656673]	447
GO:0006469	negative regulation of protein kinase activity	Biological Process	IDA[12656673]	13
GO:0006508	proteolysis	Biological Process		102
GO:0008385	IkappaB kinase complex	Cellular Component	IDA[12656673]	2
GO:0032088	negative regulation of NF-kappaB transcription factor activity	Biological Process	IDA[12656673]	10
GO:0033209	tumor necrosis factor-mediated signaling pathway	Biological Process	IDA[12656673]	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04621	NOD-like receptor signaling pathway	16	Specific families of pattern recognition receptors are respo...... Specific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains more than 20 members in mammals and plays a pivotal role in the recognition of intracellular ligands. NOD1 and NOD2, two prototypic NLRs, sense the cytosolic presence of the bacterial peptidoglycan fragments that escaped from endosomal compartments, driving the activation of NF-{kappa}B and MAPK, cytokine production and apoptosis. On the other hand, a different set of NLRs induces caspase-1 activation through the assembly of multiprotein complexes called inflammasomes. These NLRs include NALP1, NALP3 and Ipaf. The inflammasomes are critical for generating mature proinflammatory cytokines in concert with Toll-like receptor signaling pathway. More...

Genes shared at least 5 GO terms with PYDC1 (count: 5)

Gene Symbol	Pathway Count	Pathway List
PYCARD	10	innate immune response; cysteine-type endopeptidase activity; positive regulation of interleukin-1 beta secretion; protein binding; nucleus; cytosol; proteolysis; IkappaB kinase complex; negative regulation of NF-kappaB transcription factor activity; tumor necrosis factor-mediated signaling pathway;
CASP1	6	innate immune response; cysteine-type endopeptidase activity; positive regulation of interleukin-1 beta secretion; protein binding; cytosol; proteolysis;
MALT1	6	innate immune response; cysteine-type endopeptidase activity; protein binding; nucleus; cytosol; proteolysis;
TNFAIP3	6	innate immune response; protein binding; nucleus; cytosol; proteolysis; negative regulation of NF-kappaB transcription factor activity;
BLMH	5	cysteine-type endopeptidase activity; protein binding; nucleus; cytosol; proteolysis;

Genes shared at least 2 KEGG pathways with PYDC1 (count: 0)

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Region: chr16:31227283..31228414 View in gBrowse