Community Action Needed: Please respond to the NIH RFI
Gene

mbtps1

ID
ZDB-GENE-030131-4909
Name
membrane-bound transcription factor peptidase, site 1
Symbol
mbtps1 Nomenclature History
Previous Names
  • s1p (1)
  • gonzo
  • goz1 (1)
  • goz
  • wu:fe06e05
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to enable serine-type endopeptidase activity. Acts upstream of or within cartilage development; lipid metabolic process; and liver development. Predicted to be located in membrane. Predicted to be integral component of 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
Expression
All Expression Data
10 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mbtps1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
spondyloepiphyseal dysplasia Kondo-Fu type Alliance ?Spondyloepiphyseal dysplasia, Kondo-Fu type 618392
Associated With mbtps1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Family IPR015500 Peptidase S8, subtilisin-related
Homologous_superfamily IPR036852 Peptidase S8/S53 domain superfamily
Domain Details Per Protein
Protein Length 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
UniProtKB:Q1JPX1 248
UniProtKB:Q1LWH3 1074
UniProtKB:Q6X1U1 1074
UniProtKB:A0A2R8Q4U2 981
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations