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	chr16:84087368-84150511, -1
External Links	HGNC: 15456 Entrez Gene: 8720 Ensembl: ENSG00000140943 UCSC: uc002fhi.3
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:0005794	Golgi apparatus	cellular component	IBA	174
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	13
GO:0008203	cholesterol metabolic process	biological process	IEA	16
GO:0005788	endoplasmic reticulum lumen	cellular component	TAS[9809072]	35
GO:0006508	proteolysis	biological process	IBA	123
GO:0000139	Golgi membrane	cellular component	TAS	106
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	16
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	159
GO:0042990	regulation of transcription factor import into nucleus	biological process	IEA	1
GO:0004252	serine-type endopeptidase activity	molecular function	IBA	40
GO:0016021	integral to membrane	cellular component	IEA	932
GO:0006629	lipid metabolic process	biological process	IBA	51
GO:0005795	Golgi stack	cellular component	IEA	9

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with MBTPS1 (count: 6)

Gene Symbol	Pathway Count	Pathway List
YIF1A	6	Golgi apparatus; activation of signaling protein activity involved in unfolded protein response; Golgi membrane; endoplasmic reticulum unfolded protein response; endoplasmic reticulum membrane; integral to membrane;
TPP1	5	activation of signaling protein activity involved in unfolded protein response; proteolysis; endoplasmic reticulum unfolded protein response; serine-type endopeptidase activity; lipid metabolic process;
GOSR2	5	activation of signaling protein activity involved in unfolded protein response; Golgi membrane; endoplasmic reticulum unfolded protein response; integral to membrane; Golgi stack;
ATF6	5	activation of signaling protein activity involved in unfolded protein response; Golgi membrane; endoplasmic reticulum unfolded protein response; endoplasmic reticulum membrane; integral to membrane;
SREBF1	5	cholesterol metabolic process; Golgi membrane; endoplasmic reticulum membrane; integral to membrane; lipid metabolic process;
RHBDF1	5	proteolysis; Golgi membrane; endoplasmic reticulum membrane; serine-type endopeptidase activity; integral to membrane;

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

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Region: chr16:84087368..84150511 View in gBrowse