MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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 Références Source
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 Références Source
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 Références Source
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

Peptidase_S8: Subtilase family (214 - 472)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
Protein Preferred Names Protein Names

membrane-bound transcription factor site-1 protease

  • endopeptidase S1P

Related Diseases

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)
Cat. No. Nom du produit
Effect
Pureté
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

Species Symbol Source 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