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mbtps1 membrane-bound transcription factor peptidase, site 1 [ Danio rerio (zebrafish) ]

Gene ID: 326710, updated on 9-Sep-2025
Official Symbol
mbtps1provided by ZNC
Official Full Name
membrane-bound transcription factor peptidase, site 1provided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-4909
See related
Ensembl:ENSDARG00000014634 AllianceGenome:ZFIN:ZDB-GENE-030131-4909
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
s1p; goz1; wu:fe06e05
Summary
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. 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). [provided by Alliance of Genome Resources, Apr 2025]
Orthologs
human mouse all
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See mbtps1 in Genome Data Viewer
Location:
chromosome: 18
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2025_04 current GRCz12tu (GCF_049306965.1) 18 NC_133193.1 (23034917..23074779, complement)
RS_2024_08 previous assembly GRCz11 (GCF_000002035.6) 18 NC_007129.7 (21645247..21685055, complement)

Chromosome 18 - NC_133193.1Genomic Context describing neighboring genes Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene solute carrier family 38 member 8a Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene protein serine kinase H1

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Related articles in PubMed

  1. Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism. Bayraktar EC, et al. Nat Metab, 2020 Jun. PMID 32694732, Free PMC Article
  2. Site-1 protease is required for cartilage development in zebrafish. Schlombs K, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14612568, Free PMC Article
  3. Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo. Chaudhury S, et al. Development, 2020 Sep 18. PMID 32839180
  4. The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis. Melville DB, et al. Dis Model Mech, 2011 Nov. PMID 21729877, Free PMC Article
  5. Proprotein convertase subtilisin/kexin type 7 (PCSK7) is essential for the zebrafish development and bioavailability of transforming growth factor β1a (TGFβ1a). Turpeinen H, et al. J Biol Chem, 2013 Dec 20. PMID 24178295, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. required for chondrocyte morphogenesis
    Title: Site-1 protease is required for cartilage development in zebrafish.
Submit: New GeneRIF Correction

Markers

Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cartilage development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within intestinal lipid absorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within liver development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
membrane-bound transcription factor site-1 protease
Names
gonzo
goz
membrane-bound transcription factor protease, site 1
NP_954683.2
XP_021323268.1

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_199213.2 → NP_954683.2  membrane-bound transcription factor site-1 protease precursor

    See identical proteins and their annotated locations for NP_954683.2

    Status: VALIDATED

    Source sequence(s)
    EB946210, JBMGRA010000018
    UniProtKB/TrEMBL
    A0A8N7XJA4, F1QAK2, Q1LWH3
    Related
    ENSDARP00000007839.7, ENSDART00000019861.9
    Conserved Domains (1) summary
    cd07479
    Location:218 → 470
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins

RefSeqs of Annotated Genomes: GCF_049306965.1-RS_2025_04

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz12tu Primary Assembly

Genomic

  1. NC_133193.1 Reference GRCz12tu Primary Assembly

    Range
    23034917..23074779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021467593.2 → XP_021323268.1  membrane-bound transcription factor site-1 protease isoform X1

    UniProtKB/TrEMBL
    A0A8N7XJA4, F1QAK2, Q1LWH3
    Conserved Domains (1) summary
    cd07479
    Location:218 → 470
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

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