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	PMAIP1
Symbol Alias	APR, NOXA
Approved Name	phorbol-12-myristate-13-acetate-induced protein 1
Location	18q21.32
Position	chr18:57567180-57571538, +
External Links	HGNC: 9108 Entrez Gene: 5366 Ensembl: ENSG00000141682 UCSC: uc002lic.2
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: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
18q21.31-21.32	chr18:53800000-59000000	1 (1/0/0)

Gene related GO terms (count: 33)

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

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	Molecular Function		910
GO:0001836	release of cytochrome c from mitochondria	Biological Process		2
GO:0005739	mitochondrion	Cellular Component	IDA[15705586]	183
GO:0005634	nucleus	Cellular Component	IDA[12879012]	770
GO:0005829	cytosol	Cellular Component		447
GO:0005741	mitochondrial outer membrane	Cellular Component		21
GO:0006917	induction of apoptosis	Biological Process	IDA[15705586]	31
GO:0006915	apoptotic process	Biological Process	IMP[17599062]	111
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	Biological Process	IDA[15705586]	9
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process	IDA[15705586]	11
GO:0006974	response to DNA damage stimulus	Biological Process		37
GO:0006926	virus-infected cell apoptotic process	Biological Process	IDA[15705586]	2
GO:0010165	response to X-ray	Biological Process		4
GO:0009411	response to UV	Biological Process		5
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	Biological Process		2
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	Biological Process		1
GO:0090200	positive regulation of release of cytochrome c from mitochondria	Biological Process	IDA[14699081]; IMP[17289999]	5
GO:0010917	negative regulation of mitochondrial membrane potential	Biological Process	ISS[14699081]	1
GO:0032461	positive regulation of protein oligomerization	Biological Process	IDA[17024184]	1
GO:0010498	proteasomal protein catabolic process	Biological Process	IDA[15901672]	1
GO:0010907	positive regulation of glucose metabolic process	Biological Process		1
GO:0043065	positive regulation of apoptotic process	Biological Process		34
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process	IDA[14699081]	7
GO:0042149	cellular response to glucose starvation	Biological Process		4
GO:0043029	T cell homeostasis	Biological Process		2
GO:0043525	positive regulation of neuron apoptotic process	Biological Process		9
GO:0046902	regulation of mitochondrial membrane permeability	Biological Process	IDA[14500711]	3
GO:0043331	response to dsRNA	Biological Process	IDA[15705586]	1
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	Biological Process	IMP[15102863]	2
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	Biological Process	IMP[15102863]	3
GO:0072593	reactive oxygen species metabolic process	Biological Process	IDA[14699081]	7
GO:0048147	negative regulation of fibroblast proliferation	Biological Process		5
GO:0071456	cellular response to hypoxia	Biological Process		12

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04115	p53 signaling pathway	14	p53 activation is induced by a number of stress signals, inc...... p53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated genes. This results in three major outputs; cell cycle arrest, cellular senescence or apoptosis. Other p53-regulated gene functions communicate with adjacent cells, repair the damaged DNA or set up positive and negative feedback loops that enhance or attenuate the functions of the p53 protein and integrate these stress responses with other signal transduction pathways. More...

Genes shared at least 5 GO terms with PMAIP1 (count: 25)

Gene Symbol	Pathway Count	Pathway List
BAD	12	protein binding; mitochondrion; cytosol; mitochondrial outer membrane; induction of apoptosis; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of mitochondrial membrane permeability; cellular response to hypoxia;
BNIP3	10	protein binding; mitochondrion; nucleus; mitochondrial outer membrane; induction of apoptosis; apoptotic process; positive regulation of release of cytochrome c from mitochondria; regulation of mitochondrial membrane permeability; reactive oxygen species metabolic process; cellular response to hypoxia;
PYCARD	10	protein binding; mitochondrion; nucleus; cytosol; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; intrinsic apoptotic signaling pathway by p53 class mediator;
APC	7	protein binding; nucleus; cytosol; apoptotic process; cellular component disassembly involved in execution phase of apoptosis; response to DNA damage stimulus; positive regulation of apoptotic process;
EGLN3	7	protein binding; nucleus; cytosol; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus; cellular response to hypoxia;
MAPK1	7	protein binding; mitochondrion; nucleus; cytosol; induction of apoptosis; apoptotic process; response to DNA damage stimulus;
MEN1	7	protein binding; nucleus; cytosol; response to DNA damage stimulus; response to UV; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;
WWOX	7	protein binding; mitochondrion; nucleus; cytosol; induction of apoptosis; apoptotic process; positive regulation of apoptotic process;
MAPK3	6	protein binding; mitochondrion; nucleus; cytosol; apoptotic process; response to DNA damage stimulus;
RPS3	6	protein binding; nucleus; cytosol; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus;
APBB1	5	protein binding; nucleus; apoptotic process; response to DNA damage stimulus; positive regulation of apoptotic process;
ATM	5	protein binding; response to DNA damage stimulus; positive regulation of apoptotic process; positive regulation of neuron apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator;
BCLAF1	5	protein binding; nucleus; induction of apoptosis; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of apoptotic process;
BIRC2	5	protein binding; nucleus; cytosol; apoptotic process; cellular component disassembly involved in execution phase of apoptosis;
CASP1	5	protein binding; cytosol; induction of apoptosis; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process;
CCND1	5	protein binding; nucleus; cytosol; response to DNA damage stimulus; response to X-ray;
DAXX	5	protein binding; nucleus; cytosol; induction of apoptosis; apoptotic process;
ERCC8	5	protein binding; nucleus; response to DNA damage stimulus; response to X-ray; response to UV;
FADD	5	protein binding; cytosol; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process;
GSTP1	5	protein binding; mitochondrion; nucleus; cytosol; negative regulation of fibroblast proliferation;
HK1	5	protein binding; mitochondrion; nucleus; cytosol; mitochondrial outer membrane;
MAPK9	5	protein binding; release of cytochrome c from mitochondria; mitochondrion; cytosol; positive regulation of apoptotic process;
PRKAA1	5	protein binding; nucleus; cytosol; cellular response to glucose starvation; cellular response to hypoxia;
SNCA	5	protein binding; mitochondrion; nucleus; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process;
TJP1	5	protein binding; nucleus; cytosol; apoptotic process; cellular component disassembly involved in execution phase of apoptosis;

Genes shared at least 2 KEGG pathways with PMAIP1 (count: 0)

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Region: chr18:57567180..57571538 View in gBrowse