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 have serine-type endopeptidase activity. Involved in cartilage development; lipid metabolic process; and liver development. Predicted to localize to Golgi apparatus. Is expressed in several structures, including axial chorda mesoderm; axis; margin; pleuroperitoneal region; and tail bud. 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

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7149614 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 5 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
Family	IPR050131	Subtilisin-like serine protease
Homologous_superfamily	IPR036852	Peptidase S8/S53 domain superfamily