Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8720
Gene name Gene Name - the full gene name approved by the HGNC.	Membrane bound transcription factor peptidase, site 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MBTPS1
Synonyms (NCBI Gene) Gene synonyms aliases	CAOP, PCSK8, S1P, SEDKF, SKI-1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q23.3-q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	EXP	9990022
GO:0000139	Component	Golgi membrane	IDA	9990022
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	EXP	11163209
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	21719679, 34349020
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	21719679
GO:0004252	Function	Serine-type endopeptidase activity	TAS	9809072
GO:0005515	Function	Protein binding	IPI	34349020
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	9809072
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	21719679
GO:0006508	Process	Proteolysis	TAS	9809072
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IDA	14645851
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007040	Process	Lysosome organization	IMP	21719679
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	34349020
GO:0016787	Function	Hydrolase activity	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IEA
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:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166
GO:0051604	Process	Protein maturation	IDA	21719679
GO:0051604	Process	Protein maturation	IMP	21719679
GO:0060627	Process	Regulation of vesicle-mediated transport	IMP	30046013

MIM	HGNC	e!Ensembl
603355	15456	ENSG00000140943

Protein

UniProt ID

Q14703

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

8UW8 , 8UWC

Family and domains

Pfam

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10944850}.

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spondyloenchondrodysplasia	Spondyloepiphyseal dysplasia, kondo-fu type	rs1226321681, rs2085516391, rs771258750	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia Sickle Cell	Associate	37439373
Aortic Aneurysm Familial Abdominal 1	Associate	22547907
Arthritis Rheumatoid	Associate	16508940
Carcinoma Hepatocellular	Associate	36068200
Carcinoma Ovarian Epithelial	Associate	18645009
Carcinoma Renal Cell	Associate	34285190
Colorectal Neoplasms	Associate	25117815
Craniosynostoses	Associate	32420688
Dementia Vascular	Inhibit	32998767
Endometrial Neoplasms	Associate	21333981
Epilepsy	Associate	32420688
Fibrosis	Associate	26376826
Gastrointestinal Stromal Tumors	Associate	35999321
HEM dysplasia	Associate	30046013, 32420688
Hemolysis	Associate	37439373
Inflammation	Associate	22547907, 33980925
Inflammation	Stimulate	32998767
Leukemia	Associate	26045781
Lung Neoplasms	Inhibit	23409034
Lymphoma	Associate	27389057
Migraine Disorders	Associate	31070020
Myalgia	Associate	31070020
Neoplasms	Associate	23409034, 30726072
Osteochondrodysplasias	Associate	32420688
Polycystic Ovary Syndrome	Associate	31070020
Prostatic Neoplasms	Associate	22540830
Respiratory Distress Syndrome	Associate	32252779
Spondyloepimetaphyseal Dysplasia X Linked	Associate	32420688
Stroke	Associate	31391037
Thyroid Neoplasms	Associate	16753042
Triple Negative Breast Neoplasms	Stimulate	26857281
Wilms Tumor	Associate	19157443

MBTPS1 (membrane bound transcription factor peptidase, site 1)