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MBTPS1 (membrane bound transcription factor peptidase, site 1)

Gene

Membrane bound transcription factor peptidase, site 1

MBTPS1

CAOP, PCSK8, S1P, SEDKF, SKI-1

16

16q23.3-q24.1

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs771258750	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1226321681	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant

Show/Hide all(166)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051782	hsa-let-7c-5p	CLASH	23622248
MIRT041290	hsa-miR-193b-3p	CLASH	23622248
MIRT039121	hsa-miR-769-3p	CLASH	23622248
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT1136177	hsa-miR-1324	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT1136182	hsa-miR-216a	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136185	hsa-miR-3667-5p	CLIP-seq
MIRT1136186	hsa-miR-3671	CLIP-seq
MIRT1136187	hsa-miR-374c	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT1136189	hsa-miR-4264	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136191	hsa-miR-4762-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT1136193	hsa-miR-4797-3p	CLIP-seq
MIRT1136194	hsa-miR-483-5p	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136198	hsa-miR-607	CLIP-seq
MIRT1136199	hsa-miR-616	CLIP-seq
MIRT1136200	hsa-miR-622	CLIP-seq
MIRT1136201	hsa-miR-655	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT2038727	hsa-miR-1913	CLIP-seq
MIRT2038728	hsa-miR-324-3p	CLIP-seq
MIRT2038729	hsa-miR-331-3p	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2038731	hsa-miR-3616-3p	CLIP-seq
MIRT2038732	hsa-miR-3667-3p	CLIP-seq
MIRT2038733	hsa-miR-3668	CLIP-seq
MIRT2038734	hsa-miR-3978	CLIP-seq
MIRT2038735	hsa-miR-4436b-3p	CLIP-seq
MIRT2038736	hsa-miR-4436b-5p	CLIP-seq
MIRT2038737	hsa-miR-4459	CLIP-seq
MIRT2038738	hsa-miR-4641	CLIP-seq
MIRT2038739	hsa-miR-4773	CLIP-seq
MIRT2038740	hsa-miR-4779	CLIP-seq
MIRT2038741	hsa-miR-513a-5p	CLIP-seq
MIRT2038742	hsa-miR-548k	CLIP-seq
MIRT2038743	hsa-miR-665	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2268727	hsa-miR-205	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT1136182	hsa-miR-216a	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136186	hsa-miR-3671	CLIP-seq
MIRT1136189	hsa-miR-4264	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136191	hsa-miR-4762-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT1136193	hsa-miR-4797-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136198	hsa-miR-607	CLIP-seq
MIRT1136199	hsa-miR-616	CLIP-seq
MIRT1136200	hsa-miR-622	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT2568072	hsa-miR-1184	CLIP-seq
MIRT2568073	hsa-miR-1207-3p	CLIP-seq
MIRT2568074	hsa-miR-1226	CLIP-seq
MIRT2568075	hsa-miR-1243	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT2568076	hsa-miR-1291	CLIP-seq
MIRT2568077	hsa-miR-1301	CLIP-seq
MIRT2568078	hsa-miR-140-3p	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2568079	hsa-miR-188-5p	CLIP-seq
MIRT2568080	hsa-miR-204	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT2568081	hsa-miR-211	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT2568082	hsa-miR-296-3p	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT2568083	hsa-miR-3176	CLIP-seq
MIRT2568084	hsa-miR-326	CLIP-seq
MIRT2568085	hsa-miR-328	CLIP-seq
MIRT2568086	hsa-miR-330-5p	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2568087	hsa-miR-3614-3p	CLIP-seq
MIRT2568088	hsa-miR-3922-3p	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT2568089	hsa-miR-4261	CLIP-seq
MIRT2568090	hsa-miR-4284	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT2568091	hsa-miR-4453	CLIP-seq
MIRT2568092	hsa-miR-4493	CLIP-seq
MIRT2568093	hsa-miR-4538	CLIP-seq
MIRT2568094	hsa-miR-4638-5p	CLIP-seq
MIRT2568095	hsa-miR-4660	CLIP-seq
MIRT2568096	hsa-miR-4738-3p	CLIP-seq
MIRT2568097	hsa-miR-4738-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT2568098	hsa-miR-495	CLIP-seq
MIRT2568099	hsa-miR-5047	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT2568100	hsa-miR-875-3p	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT2568072	hsa-miR-1184	CLIP-seq
MIRT2568073	hsa-miR-1207-3p	CLIP-seq
MIRT2568074	hsa-miR-1226	CLIP-seq
MIRT2568075	hsa-miR-1243	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT2568076	hsa-miR-1291	CLIP-seq
MIRT2568077	hsa-miR-1301	CLIP-seq
MIRT2568078	hsa-miR-140-3p	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2568079	hsa-miR-188-5p	CLIP-seq
MIRT2568080	hsa-miR-204	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT2568081	hsa-miR-211	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT2568083	hsa-miR-3176	CLIP-seq
MIRT2568084	hsa-miR-326	CLIP-seq
MIRT2568085	hsa-miR-328	CLIP-seq
MIRT2568086	hsa-miR-330-5p	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2568087	hsa-miR-3614-3p	CLIP-seq
MIRT2568088	hsa-miR-3922-3p	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT2568089	hsa-miR-4261	CLIP-seq
MIRT2568090	hsa-miR-4284	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT2568091	hsa-miR-4453	CLIP-seq
MIRT2568092	hsa-miR-4493	CLIP-seq
MIRT2568093	hsa-miR-4538	CLIP-seq
MIRT2568094	hsa-miR-4638-5p	CLIP-seq
MIRT2568095	hsa-miR-4660	CLIP-seq
MIRT2568096	hsa-miR-4738-3p	CLIP-seq
MIRT2568097	hsa-miR-4738-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT2568098	hsa-miR-495	CLIP-seq
MIRT2568099	hsa-miR-5047	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT2568100	hsa-miR-875-3p	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0004252	Function	Serine-type endopeptidase activity	EXP	11163209
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0004252	Function	Serine-type endopeptidase activity	IMP	21719679
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005795	Component	Golgi stack	IEA
GO:0006508	Process	Proteolysis	IMP	21719679
GO:0006606	Process	Protein import into nucleus	IEA
GO:0007040	Process	Lysosome organization	IMP	21719679
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22934019
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0060627	Process	Regulation of vesicle-mediated transport	IMP	30046013

MIM	HGNC	e!Ensembl
603355	15456	ENSG00000140943

Protein

UniProt ID

Protein name

Membrane-bound transcription factor site-1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin-isozyme 1) (SKI-1)

Protein function

Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates include SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6, ATF6B and FAM20C (PubMed:10644685, PubMed:12782636, PubMed:2

PDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00082	Peptidase_S8	209 → 464	Subtilase family	Domain

Sequence

MKLVNIWLLLLVVLLCGKKHLGDRLEKKSFEKAPCPGCSHLTLKVEFSSTVVEYEYIVAF
NGYFTAKARNSFISSALKSSEVDNWRIIPRNNPSSDYPSDFEVIQIKEKQKAGLLTLEDH
PNIKRVTPQRKVFRSLKYAESDPTVPCNETRWSQKWQSSRPLRRASLSLGSGFWHATGRH
SSRRLLRAIPRQVAQTLQADVLWQMGYTGANVRVAVFDTGLSEKHPHFKNVKERTNWTNE
RTLDDGLGHGTFVAGVIASMRECQGFAPDAELHIFRVFTNNQVSYTSWFLDAFNYAILKK
IDVLNLSIGGPDFMDHPFVDKVWELTANNVIMVSAIGNDGPLYGTLNNPADQMDVIGVGG
IDFEDNIARFSSRGMTTWELPGGYGRMKPDIVTYGAGVRGSGVKGGCRALSGTSVASPVV
AGAVTLLVSTVQKRELVNPASMKQALIASARRLPGVNMFEQGHGKLDLLRAYQILNSYKP
QASLSPSYIDLTECPYMWPYCSQPIYYGGMPTVVNVTILNGMGVTGRIVDKPDWQPYLPQ
NGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASWEGIAQGHVMITVASPAETESKNGAE
QTSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRDNLRMKNDPLDWNGDHIHTN
FRDMYQHLRSMGYFVEVLGAPFTCFDASQYGTLLMVDSEEEYFPEEIAKLRRDVDNGLSL
VIFSDWYNTSVMRKVKFYDENTRQWWMPDTGGANIPALNELLSVWNMGFSDGLYEGEFTL
ANHDMYYASGCSIAKFPEDGVVITQTFKDQGLEVLKQETAVVENVPILGLYQIPAEGGGR
IVLYGDSNCLDDSHRQKDCFWLLDALLQYTSYGVTPPSLSHSGNRQRPPSGAGSVTPERM
EGNHLHRYSKVLEAHLGDPKPRPLPACPRLSWAKPQPLNETAPSNLWKHQKLLSIDLDKV
VLPNFRSNRPQVRPLSPGESGAWDIPGGIMPGRYNQEVGQTIPVFAFLGAMVVLAFFVVQ
INKAKSRPKRRKPRVKRPQLMQQVHPPKTPSV

Sequence length

1052

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) CREB3 factors activate genes Post-translational protein phosphorylation

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682

Show/Hide Unknown Diseases (6)

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus carinatum	Congenital pectus carinatum
Dwarfism	Dwarfism
Liver carcinoma	Liver carcinoma		14563831
Macrotia	Macrotia
Posteriorly rotated ear	Posteriorly rotated ear
Prostatic neoplasms	Prostatic Neoplasms		17013881

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