ADHDgene Database

Gene Report

Basic Info

Approved Symbol	MBTPS1
Symbol Alias	S1P, KIAA0091, SKI-1, PCSK8
Approved Name	membrane-bound transcription factor peptidase, site 1
Previous Name	membrane-bound transcription factor protease, site 1
Location	16q24
Position	chr16:84087366-84150548, -
External Links	HGNC: 15456 Entrez Gene: 8720 Ensembl: ENSG00000140943 UCSC: uc002fhi.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_36	chr16:82208011-82797605 (NCBI36 / hg18)	589595	16q23.3-16q24.1	dup
CNV_Elia[2010]_179	chr16:82613399-82701613 (NCBI Build 35 (hg17))	88215	16q23.3-16q24.1	Deletion (hemizygous)	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16q23.1-24.3	chr16:74100000-90354753	1 (1/0/0)

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016021	integral to membrane	Cellular Component		845
GO:0008203	cholesterol metabolic process	Biological Process		16
GO:0006987	activation of signaling protein activity involved in unfolded protein response	Biological Process		13
GO:0006629	lipid metabolic process	Biological Process		51
GO:0042990	regulation of transcription factor import into nucleus	Biological Process		1
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process		16
GO:0005788	endoplasmic reticulum lumen	Cellular Component	TAS[9809072]	33
GO:0004252	serine-type endopeptidase activity	Molecular Function		29
GO:0000139	Golgi membrane	Cellular Component		95
GO:0006508	proteolysis	Biological Process		102
GO:0005795	Golgi stack	Cellular Component		9
GO:0005794	Golgi apparatus	Cellular Component		157
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
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 MBTPS1 (count: 5)

Gene Symbol	Pathway Count	Pathway List
YIF1A	6	integral to membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane;
ATF6	5	integral to membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; Golgi membrane; endoplasmic reticulum membrane;
GOSR2	5	integral to membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; Golgi membrane; Golgi stack;
SREBF1	5	integral to membrane; cholesterol metabolic process; lipid metabolic process; Golgi membrane; endoplasmic reticulum membrane;
TPP1	5	activation of signaling protein activity involved in unfolded protein response; lipid metabolic process; endoplasmic reticulum unfolded protein response; serine-type endopeptidase activity; proteolysis;

Genes shared at least 2 KEGG pathways with MBTPS1 (count: 0)

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Region: chr16:84087366..84150548 View in gBrowse