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	HSPA5
Previous Symbol	GRP78
Symbol Alias	BiP
Approved Name	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
Previous Name	heat shock 70kD protein 5 (glucose-regulated protein, 78kD)
Location	9q33.3
Position	chr9:127997127-128003661, -
External Links	HGNC: 5238 Entrez Gene: 3309 Ensembl: ENSG00000044574 UCSC: uc004bpn.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)
9q33	chr9:117700000-130300000	2 (1/1/0)

Gene related GO terms (count: 37)

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

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042149	cellular response to glucose starvation	Biological Process	IDA[10085239]	4
GO:0042470	melanosome	Cellular Component		22
GO:0031625	ubiquitin protein ligase binding	Molecular Function	IPI[8666824]	23
GO:0034663	endoplasmic reticulum chaperone complex	Cellular Component	IDA[18400946]	1
GO:0051082	unfolded protein binding	Molecular Function	TAS[16130169]	19
GO:0005515	protein binding	Molecular Function	IPI[19632185]	910
GO:0051087	chaperone binding	Molecular Function	TAS[19816510]	5
GO:0005509	calcium ion binding	Molecular Function	TAS[16130169]	124
GO:0043022	ribosome binding	Molecular Function		4
GO:0002576	platelet degranulation	Biological Process		12
GO:0043066	negative regulation of apoptotic process	Biological Process	IMP[12665508]; TAS[16130169]	77
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33
GO:0005783	endoplasmic reticulum	Cellular Component	IDA[16223484]; IMP[11943137]; TAS[16130169]	100
GO:0051787	misfolded protein binding	Molecular Function	IDA[18400946]	1
GO:0005634	nucleus	Cellular Component	IMP[11943137]	770
GO:0060904	regulation of protein folding in endoplasmic reticulum	Biological Process	TAS[19816510]	1
GO:0005524	ATP binding	Molecular Function		228
GO:0006983	ER overload response	Biological Process		2
GO:0006200	ATP catabolic process	Biological Process		6
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	Cellular Component	IDA[15308636]	17
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0009986	cell surface	Cellular Component	IDA[12493773]	70
GO:0008180	signalosome	Cellular Component	IDA[18850735]	8
GO:0007596	blood coagulation	Biological Process		83
GO:0006987	activation of signaling protein activity involved in unfolded protein response	Biological Process		13
GO:0021680	cerebellar Purkinje cell layer development	Biological Process		2
GO:0021589	cerebellum structural organization	Biological Process		1
GO:0019904	protein domain specific binding	Molecular Function	IPI[12411443]	40
GO:0016887	ATPase activity	Molecular Function		14
GO:0030496	midbody	Cellular Component	IDA[15166316]	14
GO:0030433	ER-associated protein catabolic process	Biological Process	TAS[19816510]	7
GO:0030176	integral to endoplasmic reticulum membrane	Cellular Component	IDA[11181571]	14
GO:0030168	platelet activation	Biological Process		38
GO:0031398	positive regulation of protein ubiquitination	Biological Process		8
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process	TAS[19816510]	16
GO:0030674	protein binding, bridging	Molecular Function		11
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	Biological Process		13

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04612	Antigen processing and presentation	9
hsa03060	Protein export	7	The protein export is the active transport of proteins from ...... The protein export is the active transport of proteins from the cytoplasm to the exterior of the cell, or to the periplasmic compartment in Gram-negative bacteria. The sec dependent pathway is the general protein export system that transports newly synthesized proteins into or across the cell membrane. The translocation channel is formed from a conserved trimeric membrane protein complex, called the Sec61/SecY complex. The twin-arginine translocation (Tat) pathway is another protein transport system that transports folded proteins in bacteria, archaea, and chloroplasts. Many Tat systems comprise three functionally different membrane proteins, TatA, TatB, and TatC, but TatA and TatE seem to have overlapping functions, with TatA having by far the more important role. More...
hsa05020	Prion diseases	11	Prion diseases, also termed transmissible spongiform encepha...... Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC. More...
hsa04141	Protein processing in endoplasmic reticulum	26	The endoplasmic reticulum (ER) is a subcellular organelle wh...... The endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylated. Correctly folded proteins are packaged into transport vesicles that shuttle them to the Golgi complex. Misfolded proteins are retained within the ER lumen in complex with molecular chaperones. Proteins that are terminally misfolded bind to BiP and are directed toward degradation through the proteasome in a process called ER-associated degradation (ERAD). Accumulation of misfolded proteins in the ER causes ER stress and activates a signaling pathway called the unfolded protein response (UPR). In certain severe situations, however, the protective mechanisms activated by the UPR are not sufficient to restore normal ER function and cells die by apoptosis. More...

Genes shared at least 5 GO terms with HSPA5 (count: 34)

Gene Symbol	Pathway Count	Pathway List
PDIA6	8	melanosome; protein binding; endoplasmic reticulum lumen; endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
SYVN1	8	protein binding; negative regulation of apoptotic process; endoplasmic reticulum; nucleus; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response;
CANX	7	melanosome; unfolded protein binding; protein binding; calcium ion binding; endoplasmic reticulum lumen; endoplasmic reticulum; endoplasmic reticulum membrane;
ARRB2	7	ubiquitin protein ligase binding; protein binding; nucleus; blood coagulation; protein domain specific binding; platelet activation; positive regulation of protein ubiquitination;
HSPA8	6	melanosome; unfolded protein binding; protein binding; nucleus; ATP binding; cell surface;
GSK3B	6	ubiquitin protein ligase binding; protein binding; negative regulation of apoptotic process; nucleus; ATP binding; ER overload response;
APOA1	6	protein binding; platelet degranulation; endoplasmic reticulum lumen; nucleus; blood coagulation; platelet activation;
CFL1	6	protein binding; platelet degranulation; negative regulation of apoptotic process; nucleus; blood coagulation; platelet activation;
VEGFA	6	protein binding; platelet degranulation; negative regulation of apoptotic process; cell surface; blood coagulation; platelet activation;
PRKAA1	5	cellular response to glucose starvation; protein binding; negative regulation of apoptotic process; nucleus; ATP binding;
PDIA3	5	melanosome; protein binding; endoplasmic reticulum lumen; endoplasmic reticulum; cell surface;
TMED10	5	melanosome; protein binding; endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane;
ARRB1	5	ubiquitin protein ligase binding; protein binding; nucleus; blood coagulation; platelet activation;
PARK2	5	ubiquitin protein ligase binding; protein binding; chaperone binding; endoplasmic reticulum; nucleus;
XRCC5	5	ubiquitin protein ligase binding; protein binding; negative regulation of apoptotic process; nucleus; ATP binding;
CRYAB	5	unfolded protein binding; protein binding; negative regulation of apoptotic process; nucleus; cell surface;
LMAN1	5	unfolded protein binding; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; blood coagulation;
ATF6	5	protein binding; nucleus; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
ATP8B1	5	protein binding; endoplasmic reticulum; ATP binding; ATP catabolic process; ATPase activity;
CHD1L	5	protein binding; nucleus; ATP binding; ATP catabolic process; ATPase activity;
EHD3	5	protein binding; calcium ion binding; nucleus; ATP binding; blood coagulation;
FN1	5	protein binding; platelet degranulation; endoplasmic reticulum-Golgi intermediate compartment; blood coagulation; platelet activation;
HABP4	5	protein binding; platelet degranulation; nucleus; blood coagulation; platelet activation;
ITPR1	5	protein binding; endoplasmic reticulum; endoplasmic reticulum membrane; blood coagulation; platelet activation;
KIF23	5	protein binding; nucleus; ATP binding; blood coagulation; midbody;
MAPK1	5	protein binding; nucleus; ATP binding; blood coagulation; platelet activation;
MAPK3	5	protein binding; nucleus; ATP binding; blood coagulation; platelet activation;
PIK3CG	5	protein binding; negative regulation of apoptotic process; ATP binding; blood coagulation; platelet activation;
PLK1	5	protein binding; negative regulation of apoptotic process; nucleus; ATP binding; midbody;
PRKCB	5	protein binding; nucleus; ATP binding; blood coagulation; platelet activation;
SNCA	5	protein binding; calcium ion binding; negative regulation of apoptotic process; nucleus; protein domain specific binding;
VEGFB	5	protein binding; platelet degranulation; negative regulation of apoptotic process; blood coagulation; platelet activation;
YIF1A	5	protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
HYOU1	5	endoplasmic reticulum lumen; endoplasmic reticulum; ATP binding; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;

Genes shared at least 2 KEGG pathways with HSPA5 (count: 5)

Gene Symbol	Pathway Count	Pathway List
CANX	2	Antigen processing and presentation; Protein processing in endoplasmic reticulum;
HSPA6	2	Antigen processing and presentation; Protein processing in endoplasmic reticulum;
HSPA8	2	Antigen processing and presentation; Protein processing in endoplasmic reticulum;
PDIA3	2	Antigen processing and presentation; Protein processing in endoplasmic reticulum;
SEC61B	2	Protein export; Protein processing in endoplasmic reticulum;

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Region: chr9:127997127..128003661 View in gBrowse