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MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

Also Known as S1P; PCSK8; SEDKF; SKI-1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8720

About MBTPS1

Cytogenetic location: 16q23.3-q24.1 Genomic coordinates (GRCh38): 16:84,053,763-84,116,942 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues, 9 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 38.5), ovary (RPKM 28.3) and 25 other tissues.

Summary

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 undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates Cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

MBTPS1 Products (1)

mRNA	Protein	Name
NM_003791.4	NP_003782.1	membrane-bound transcription factor site-1 protease preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	34349020	GOA
enables serine-type endopeptidase activity	EXP EXP: Inferred from Experiment	11163209	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	21719679	GOA
enables serine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	21719679	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in lysosome organization	IMP IMP: Inferred from mutant phenotype	21719679	GOA
involved in protein maturation	IDA IDA: Inferred from direct assay	21719679	GOA
involved in protein maturation	IMP IMP: Inferred from mutant phenotype	21719679	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	34349020	GOA
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	21719679	GOA
involved in regulation of vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	30046013	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
is active in Golgi membrane	EXP EXP: Inferred from Experiment	9990022	GOA
is active in Golgi membrane	IDA IDA: Inferred from direct assay	9990022	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBTPS1 Protein Structure

Peptidase_S8

0
200
400
600
800
1000
1052 a.a.

Protein Preferred Names	Protein Names
membrane-bound transcription factor site-1 protease	endopeptidase S1P

関連疾患

Diseases	Alias
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	SEDKF Sed With Elevated Blood Lysosomal Enzymes Spondyloepiphyseal Dysplasia Kondo-Fu Type
Lujo Hemorrhagic Fever	Zambian Hemorrhagic Fever
Bolivian Hemorrhagic Fever	Machupo Hemorrhagic Fever Hemorrhagic Fever, Bolivian Bhf - [Bolivian Haemorrhagic Fever] Machupo Haemorrhagic Fever
Argentine Hemorrhagic Fever	Argentinian Hemorrhagic Fever Junin Hemorrhagic Fever Hemorrhagic Fever, Argentinian Ahf - [Argentinian Haemorrhagic Fever] Argentine Haemorrhagic Fever Junin Haemorrhagic Fever
Pectus Carinatum	Carinatum Deformity Of The Chest
Lassa Fever	Lf Lassa Hemorrhagic Fever Lf - [Lassa Fever]
Venezuelan Hemorrhagic Fever	Guanarito Hemorrhagic Fever Vehf - [Venezuelan Haemorrhagic Fever]
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans	KPA Burnett Schwartz Berberian Syndrome
Brazilian Hemorrhagic Fever	Sabia Hemorrhagic Fever
Mucolipidosis Iii Alpha/Beta	Pseudo-Hurler Polydystrophy Mucolipidosis Iii Ml Iii Alpha/Beta Mucolipidosis Iiia Ml Iiia Ml Iii Ml 3 A Ml3 Mucolipidosis Type 3a Mucolipidosis Iii, Variant Mucolipidosis Type Iii Alpha/Beta Ml 3 Alpha/Beta Mucolipidosis Type 3 Alpha/Beta Mucolipidosis Type 3 Mucolipidosis Type Iii Complementation Group A MLIIIA Cariant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii Alpha/Beta Mucolipidosis, Type Iii, Alpha/Beta
Mucolipidosis Iii Gamma	Pseudo-Hurler Polydystrophy Mucolipidosis Type Iii Gamma Ml Iii Gamma Mucolipidosis Iiic Ml Iiic Mucolipidosis Type Iii Mucolipidosis Iii, Complementation Group C Mucolipidosis Iii, Iranian Variant Form Mucolipidosis Iii, Variant Form Mucolipidosis Iii Mucolipidosis Iii, Variant Ml 3 Gamma Mucolipidosis Type 3 Gamma Mucolipidosis Type Iii Complementation Group C MLIIIC Variant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii, Gamma
Crimean-Congo Hemorrhagic Fever	Crimean Hemorrhagic Fever Cchf Congo Hemorrhagic Fever Hemorrhagic Fever, Crimean Chf Congo Virus Congo-Crimean Hemorrhagic Fever Congo Fever Hemorrhagic Fever Crimean-Congo Cchf - [Crimean-Congo Haemorrhagic Fever] Kara Mikh Typhoid Fever Xīnjiāng Haemorrhagic Fever
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii Mucolipidosis
Mucolipidosis
Brachydactyly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08198	MBTPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20177	Mbtps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26681	Mbtps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	MBTPS1	VGNC	VGNC:74512
Canis familiaris	MBTPS1	VGNC	VGNC:43064
Mus musculus	MBTPS1	MGD	MGI:1927235
Bos taurus	MBTPS1	VGNC	VGNC:31291
Rattus norvegicus	MBTPS1	RGD	RGD:70935
Felis catus	MBTPS1	VGNC	VGNC:63408
Others	MBTPS1	NCBI