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

Gene ID: 326710, updated on 12-Sep-2024

Summary

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 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

See mbtps1 in Genome Data Viewer
Location:
chromosome: 18
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 18 NC_007129.7 (21645247..21685055, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 18 NC_007129.6 (21656181..21695991, complement)

Chromosome 18 - NC_007129.7Genomic 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

Genomic regions, transcripts, and products

Expression

  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages 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

General gene information

Markers

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 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 membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_199213.2NP_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)
    BX548157, EB946210
    UniProtKB/TrEMBL
    A0A8N7XJA4, F1QAK2, Q1LWH3
    Related
    ENSDARP00000007839.7, ENSDART00000019861.9
    Conserved Domains (1) summary
    cd07479
    Location:218470
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007129.7 Reference GRCz11 Primary Assembly

    Range
    21645247..21685055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A8N7XJA4, F1QAK2, Q1LWH3
    Conserved Domains (1) summary
    cd07479
    Location:218470
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins

Reference GRCz11 ALT_DRER_TU_1

Genomic

  1. NW_018395024.1 Reference GRCz11 ALT_DRER_TU_1

    Range
    155372..197478 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCz11 ALT_DRER_TU_2

Genomic

  1. NW_018395341.1 Reference GRCz11 ALT_DRER_TU_2

    Range
    5172..44980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)