ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CASP1
Previous Symbol	IL1BC
Symbol Alias	ICE
Approved Name	caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)
Previous Name	caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)
Name Alias	caspase-1
Location	11q23
Position	chr11:104896170-104972158, -
External Links	HGNC: 1499 Entrez Gene: 834 Ensembl: ENSG00000137752 UCSC: uc010rve.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)
11q22	chr11:97200000-110400000	1 (1/0/0)

Gene related GO terms (count: 25)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006917	induction of apoptosis	Biological Process		31
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IEP[12761501]	27
GO:0006915	apoptotic process	Biological Process	TAS[7876192]	111
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	Biological Process		8
GO:0007165	signal transduction	Biological Process	TAS[1373520]	171
GO:0050717	positive regulation of interleukin-1 alpha secretion	Biological Process		2
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process	TAS[10799503]	11
GO:0045087	innate immune response	Biological Process		54
GO:0016485	protein processing	Biological Process		8
GO:0005576	extracellular region	Cellular Component		240
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	Molecular Function	TAS[10799503]	7
GO:0005515	protein binding	Molecular Function	IPI[18329368]	910
GO:0006508	proteolysis	Biological Process	IDA[12888622]	102
GO:0033198	response to ATP	Biological Process		4
GO:0032611	interleukin-1 beta production	Biological Process		2
GO:0005829	cytosol	Cellular Component		447
GO:0072559	NLRP3 inflammasome complex	Cellular Component	IDA[15030775]	2
GO:0072558	NLRP1 inflammasome complex	Cellular Component	IDA[12191486]	3
GO:0004197	cysteine-type endopeptidase activity	Molecular Function		17
GO:0001666	response to hypoxia	Biological Process		34
GO:0097169	AIM2 inflammasome complex	Cellular Component	IDA[19158676]	2
GO:0071260	cellular response to mechanical stimulus	Biological Process	IEP[19593445]	14
GO:0050718	positive regulation of interleukin-1 beta secretion	Biological Process		5
GO:0072557	IPAF inflammasome complex	Cellular Component		1
GO:0071310	cellular response to organic substance	Biological Process	IDA[19158679]	3

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05014	Amyotrophic lateral sclerosis (ALS)	11	Amyotrophic lateral sclerosis (ALS) is a progressive, lethal...... Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. Mutant superoxide dismutase 1 (SOD1), as seen in some familial ALS (FALS) cases, is unstable, forming aggregates in the motor neuron cytoplasm, axoplasm and mitochondria. Within mitochondria, mutant SOD1 may interfere with the anti-apoptotic function of Bcl-2, affect mitochondrial import by interfering with the translocation machinery (TOM/TIM), and generate toxic free radicals (ROS). Reactive oxygen species (ROS), produced within mitochondria, inhibit the function of EAAT2, the main glial glutamate transporter protein, responsible for most of the reuptake of synaptically released glutamate. Glutamate excess increases intracellular calcium, which enhances oxidative stress and mitochondrial damage. Mutant SOD1 can also trigger oxidative reactions , which can then cause damage through the formation of hydroxyl radicals or via nitration of tyrosine residues on proteins. Nitration may target neurofilament proteins, affecting axonal transport. Collectively, these mechanisms are predicted to disturb cellular homeostasis, ultimately triggering motor neuron death. More...
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...
hsa04623	Cytosolic DNA-sensing pathway	9	Specific families of pattern recognition receptors are respo...... Specific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified sensor of cytosolic DNA which activates the IRF and NF-{kappa}B transcription factors, leading to production of type I interferon and other cytokines. The second type of cytoplasmic DNA sensor is AIM2. Upon sensing DNA, AIM2 triggers the assembly of the inflammasome, culminating in interleukin maturation. In addition to these receptors, there is a mechanism to sense foreign DNA, with the host RNA polymerase III converting the DNA into RNA for recognition by the RNA sensor RIG-I. These pathways provide various means to alert the cell. More...

Genes shared at least 5 GO terms with CASP1 (count: 20)

Gene Symbol	Pathway Count	Pathway List
PYCARD	16	induction of apoptosis; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; extracellular region; cysteine-type endopeptidase activator activity involved in apoptotic process; protein binding; proteolysis; interleukin-1 beta production; cytosol; NLRP3 inflammasome complex; NLRP1 inflammasome complex; cysteine-type endopeptidase activity; AIM2 inflammasome complex; positive regulation of interleukin-1 beta secretion;
BAD	7	induction of apoptosis; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; cysteine-type endopeptidase activator activity involved in apoptotic process; protein binding; cytosol; cellular response to mechanical stimulus;
FADD	7	positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; protein binding; cytosol; cellular response to mechanical stimulus;
MAPK1	6	induction of apoptosis; apoptotic process; signal transduction; innate immune response; protein binding; cytosol;
MALT1	6	positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; protein binding; proteolysis; cytosol; cysteine-type endopeptidase activity;
PRKD1	6	positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; signal transduction; innate immune response; protein binding; cytosol;
UBB	6	positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; protein binding; cytosol;
UBC	6	positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; protein binding; cytosol;
TXN	6	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; signal transduction; innate immune response; extracellular region; protein binding; cytosol;
PYDC1	6	innate immune response; protein binding; proteolysis; cytosol; cysteine-type endopeptidase activity; positive regulation of interleukin-1 beta secretion;
BNIP3	5	induction of apoptosis; apoptotic process; protein binding; response to hypoxia; cellular response to mechanical stimulus;
PMAIP1	5	induction of apoptosis; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; protein binding; cytosol;
RIPK3	5	induction of apoptosis; signal transduction; innate immune response; protein binding; cytosol;
PRKCB	5	positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; signal transduction; protein binding; cytosol;
CASP5	5	apoptotic process; proteolysis; NLRP1 inflammasome complex; cysteine-type endopeptidase activity; cellular response to mechanical stimulus;
EGLN3	5	apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; protein binding; cytosol; response to hypoxia;
MAPK3	5	apoptotic process; innate immune response; protein binding; cytosol; cellular response to mechanical stimulus;
MAPK7	5	apoptotic process; signal transduction; innate immune response; protein binding; cytosol;
PANX1	5	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of interleukin-1 alpha secretion; innate immune response; response to ATP; positive regulation of interleukin-1 beta secretion;
TNFAIP3	5	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; protein binding; proteolysis; cytosol;

Genes shared at least 2 KEGG pathways with CASP1 (count: 4)

Gene Symbol	Pathway Count	Pathway List
IL18	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
IL6	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
PYCARD	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
RELA	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;

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Region: chr11:104896170..104972158 View in gBrowse