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

GEO (1)

Expression Atlas

UCSC scRNA-seq

Thisse Expression Data

IMAGE:7149614 (9 images)

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