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 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
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
9 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hi1487TgTransgenic insertionIntron 1UnknownDNA
la020325TgTransgenic insertionUnknownUnknownDNA
sa9659Allele with one point mutationUnknownPremature StopENU
sa14973Allele with one point mutationUnknownSplice SiteENU
sa32206Allele with one point mutationUnknownPremature StopENU
tr6721Allele with one point mutationUnknownUnknownENU
tr6722Allele with one point mutationUnknownPremature StopENU
uq27bhAllele with one point mutationUnknownUnknownENU
uq28bhAllele with one insertionUnknownUnknownCRISPR
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Sequence Targeting Reagents
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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
CAOP syndrome 621252
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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
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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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 18
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
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-201B11ZFIN Curated Data
EncodesESTfe06e05
EncodesESTIMAGE:7149614Thisse et al., 2004
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanMBTPS116
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseMbtps18
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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