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Mouse Anti-MBTPS1 (AA 246-355) Recombinant Antibody (CBFYM-1842) (CBMAB-M2010-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-1842
Antibody Isotype
IgG1, k
Application
ELISA, IF

Basic Information

Immunogen
Recombinant protein
Specificity
Human
Antibody Isotype
IgG1, k
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 246-355

Target

Full Name
membrane-bound transcription factor peptidase, site 1
Introduction
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.
Entrez Gene ID
8720
UniProt ID
Q14703
Alternative Names
Membrane Bound Transcription Factor Peptidase, Site 1; Endopeptidase S1P; Site-1 Protease; EC 3.4.21.112; SKI-1; S1P; Membrane-Bound Transcription Factor Protease, Site 1; Membrane-Bound Transcription Factor Site-1 Protease
Function
Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates are SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6 and ATF6B (PubMed:10644685, PubMed:12782636, PubMed:21719679).

Cleaves substrates after Arg-Ser-Val-Leu (SREBP2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu (PubMed:10644685, PubMed:21719679).

Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12782636).

Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:12782636).

Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes (PubMed:21719679).

Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:21719679, PubMed:30046013).

It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation (PubMed:30046013).

Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013).
Biological Process
ATF6-mediated unfolded protein response Source: ParkinsonsUK-UCL
Cholesterol metabolic process Source: UniProtKB-KW
Endoplasmic reticulum unfolded protein response Source: Reactome
Lysosome organization Source: UniProtKB
Membrane protein intracellular domain proteolysis Source: ParkinsonsUK-UCL
Proteolysis Source: UniProtKB
Regulation of cholesterol biosynthetic process Source: Reactome
Regulation of vesicle-mediated transport Source: UniProtKB
Response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
Cellular Location
Golgi apparatus
Golgi apparatus membrane
Endoplasmic reticulum
Endoplasmic reticulum membrane
Note: May sort to other organelles, including lysosomal and/or endosomal compartments.
Involvement in disease
Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF):
A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance.
Topology
Lumenal: 187-998
Helical: 999-1021
Cytoplasmic: 1022-1052
PTM
The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic reticulum, and late into a secreted 98 kDa form (PubMed:10644685). The propeptide is autocatalytically removed through an intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8 kDa intermediates (PubMed:10644685).
More Infomation

Wang, H., Wierenga, A., Prabhu, S., & Wierenga, K. (2023). MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes.

Liaqat, K., Treat, K., Mantcheva, L., Nasir, A., Weaver, D. D., Conboy, E., & Vetrini, F. (2023). A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome. American Journal of Medical Genetics Part A.

Yuan, Y., Zhou, Q., Wang, C., Zhou, W., Gu, W., & Zheng, B. (2023). Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant. Frontiers in Pediatrics, 10, 1056141.

Hartal-Benishay, L. H., Saadi, E., Toubiana, S., Shaked, L., Lalzar, M., Abu Hatoum, O., ... & Barki-Harrington, L. (2022). MBTPS1 regulates proliferation of colorectal cancer primarily through its action on sterol regulatory element-binding proteins. Frontiers in Oncology, 12, 1004014.

Alotaibi, M., Aldossari, A., Khan, I., & Alotaibi, L. (2022). Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. Case Reports in Pediatrics, 2022.

Meyer, R., Elbracht, M., Opladen, T., & Eggermann, T. (2020). Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome. American Journal of Medical Genetics Part A, 182(11), 2727-2730.

Carvalho, D. R., Speck‐Martins, C. E., Brum, J. M., Ferreira, C. R., & Sobreira, N. L. (2020). Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. American Journal of Medical Genetics Part A, 182(7), 1796-1800.

Brandl, K., Rutschmann, S., Li, X., Du, X., Xiao, N., Schnabl, B., ... & Beutler, B. (2009). Enhanced sensitivity to DSS colitis caused by a hypomorphic Mbtps1 mutation disrupting the ATF6-driven unfolded protein response. Proceedings of the National Academy of Sciences, 106(9), 3300-3305.

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For research use only. Not intended for any clinical use.

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