2. Gene
  3. MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 8720 | Gene type: protein coding

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

MBTPS1 Protein Structure

Peptidase_S8

Peptidase_S8: Subtilase family (214 - 472)

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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08198 MBTPS1 Human Pre-designed siRNA Set A / 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