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. 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
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 |
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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 |
1 - 5 of 8 Show all
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 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mbtps1-201
(1)
|
Ensembl | 4,150 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available