ZFIN ID: ZDB-GENE-030131-4909
Gene Name: membrane-bound transcription factor peptidase, site 1
Gene Symbol: mbtps1    Nomenclature History

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Previous Names: s1p (1), gonzo, goz1 (1), goz, wu:fe06e05

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(Including Attributions)
Gene 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: Alliance (1),  Gene:326710 (1),  Ensembl(GRCz11):ENSDARG00000014634 (1)
GENE EXPRESSION
All Expression Data: 10 figures from 4 publications
Directly Submitted Expression Data: 6 figures (9 images) from Thisse et al., 2004 [IMAGE:7149614]
Wild-type Stages, Structures: Cleavage:8-cell (1.25h-1.5h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hi1487Tg Transgenic Insertion Intron 1 Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la020325Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9659 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14973 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32206 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tr6721 Point Mutation Unknown Unknown ENU
    tr6722 Point Mutation Unknown Premature Stop ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-mbtps1 N/A 1
    MO2-mbtps1 N/A 1
    DISEASE ASSOCIATED WITH mbtps1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    ?Spondyloepiphyseal dysplasia, Kondo-Fu type 618392
    DISEASE ASSOCIATED WITH mbtps1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cartilage development (more)
    Cellular Component integral component of membrane (more)
    Molecular Function endopeptidase activity (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mbtps1-201 (1)    Ensembl 4150
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM mbtps1 No data available
    MARKER RELATIONSHIPS
    mbtps1 Contained in: [BAC] CH211-201B11 (1)
    mbtps1 Encodes: [EST] fe06e05, IMAGE:7149614 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_199213 (1) 4158 nt
    Genomic GenBank:BX548157 (1) 195621 nt
    Select Tool
    Polypeptide UniProtKB:Q1LWH3 (1) 1074 aa
    Sequence Information (all 21)
    ORTHOLOGY for mbtps1 ( Chr: 18 )
    CITATIONS (38)