Gene
mbtps1
- ID
- ZDB-GENE-030131-4909
- Name
- membrane-bound transcription factor peptidase, site 1
- Symbol
- mbtps1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase activity. Acts upstream of or within several processes, including cartilage development; intestinal lipid absorption; and liver development. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including axial chorda mesoderm; axis; margin; pleuroperitoneal region; and tail bud. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kondo-Fu type. Orthologous to human MBTPS1 (membrane bound transcription factor peptidase, site 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149614 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi1487Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la020325Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa9659 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14973 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32206 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tr6721 | Allele with one point mutation | Unknown | Unknown | ENU | |
| tr6722 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uq27bh | Allele with one point mutation | Unknown | Unknown | ENU | |
| uq28bh | Allele with one insertion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-mbtps1 | Chaudhury et al., 2020 | |
| MO1-mbtps1 | N/A | Schlombs et al., 2003 |
| MO2-mbtps1 | N/A | Schlombs et al., 2003 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondyloepiphyseal dysplasia Kondo-Fu type | Alliance | Spondyloepiphyseal dysplasia, Kondo-Fu type | 618392 |
| CAOP syndrome | 621252 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR022398 | Peptidase S8, subtilisin, His-active site |
| Active_site | IPR023828 | Peptidase S8, subtilisin, Ser-active site |
| Domain | IPR000209 | Peptidase S8/S53 domain |
| Domain | IPR034185 | Site-1 peptidase catalytic domain |
| Domain | IPR055143 | Membrane-bound transcription factor site-1 protease-like, N-terminal domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Membrane-bound transcription factor site-1 protease-like, N-terminal domain | Peptidase S8/S53 domain | Peptidase S8/S53 domain superfamily | Peptidase S8, subtilisin, His-active site | Peptidase S8, subtilisin-related | Peptidase S8, subtilisin, Ser-active site | Site-1 peptidase catalytic domain | Subtilisin-like serine protease |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1LWH3 | InterPro | 1074 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mbtps1-201
(1)
|
Ensembl | 4,150 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-201B11 | ZFIN Curated Data | |
| Encodes | EST | fe06e05 | ||
| Encodes | EST | IMAGE:7149614 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199213 (1) | 4212 nt | ||
| Genomic | GenBank:BX548157 (1) | 195621 nt | ||
| Polypeptide | UniProtKB:Q1LWH3 (1) | 1074 aa |
- Valenzuela, L., Pacheco, S., Rincón, G., Pavez, L., Lam, N., Hernández, A.J., Dantagnan, P., González, F., Jilberto, F., Ravanal, M.C., Ramos, C., Garcia, H., Araneda, C., Ulloa, P.E. (2021) Intestinal Transcriptome Analysis Reveals Enrichment of Genes Associated with Immune and Lipid Mechanisms, Favoring Soybean Meal Tolerance in High-Growth Zebrafish (Danio Rerio). Genes. 12(5):
- Bayraktar, E.C., La, K., Karpman, K., Unlu, G., Ozerdem, C., Ritter, D.J., Alwaseem, H., Molina, H., Hoffmann, H.H., Millner, A., Atilla-Gokcumen, G.E., Gamazon, E.R., Rushing, A.R., Knapik, E.W., Basu, S., Birsoy, K. (2020) Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism. Nature metabolism. 2:487-498
- Chaudhury, S., Okuda, K.S., Koltowska, K., Lagendijk, A.K., Paterson, S., Baillie, G.J., Simons, C., Smith, K.A., Hogan, B.M., Bower, N.I. (2020) Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo. Development (Cambridge, England). 147(18):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Zhang, C., Ellis, J.L., Yin, C. (2016) Inhibition of vascular endothelial growth factor signaling facilitates liver repair from acute ethanol-induced injury in zebrafish. Disease models & mechanisms. 9(11):1383-1396
- Howarth, D.L., Yin, C., Yeh, K., and Sadler, K.C. (2013) Defining hepatic dysfunction parameters in two models of Fatty liver disease in zebrafish larvae. Zebrafish. 10(2):199-210
- Turpeinen, H., Oksanen, A., Kivinen, V., Kukkurainen, S., Uusimaki, A., Ramet, M., Parikka, M., Hytonen, V.P., Nykter, M., and Pesu, M. (2013) Proprotein Convertase Subtilisin/Kexin Type 7 (PCSK7) Is Essential for the Zebrafish Development and Bioavailability of Transforming Growth Factor β1a (TGFβ1a). The Journal of biological chemistry. 288(51):36610-23
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Cinaroglu, A., Gao, C., Imrie, D., and Sadler, K.C. (2011) Atf6 plays protective and pathologic roles in fatty liver disease due to endoplasmic reticulum stress. Hepatology (Baltimore, Md.). 54(2):495-508
- Melville, D.B., Montero-Balaguer, M., Levic, D.S., Bradley, K., Smith, J.R., Hatzopoulos, A.K., and Knapik, E.W. (2011) The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis. Disease models & mechanisms. 4(6):763-76
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