mbtps2 membrane-bound transcription factor peptidase, site 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mbtps2provided by ZNC
Official Full Name: membrane-bound transcription factor peptidase, site 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-6598
See related: Ensembl:ENSDARG00000057577 AllianceGenome:ZFIN:ZDB-GENE-030131-6598
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: s2p; fb72d02; wu:fb72d02; wu:fk47a09
Summary: Predicted to enable metalloendopeptidase activity. Acts upstream of or within cartilage development and lipid metabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 24

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (25448628..25461267, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (25303677..25316316, complement)

Chromosome 24 - NC_007135.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Markers

fb72d02 (e-PCR)
- UniSTS:187408

fk47a09.x1 (e-PCR)
- UniSTS:201039

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables 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
involved_in membrane protein intracellular domain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: membrane-bound transcription factor site-2 protease

Names: membrane-bound transcription factor protease, site 2

NP_001020632.1

EC 3.4.24.85

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001025461.1 → NP_001020632.1 membrane-bound transcription factor site-2 protease

See identical proteins and their annotated locations for NP_001020632.1

Status: PROVISIONAL

Source sequence(s)

BC096788

UniProtKB/TrEMBL

Q4V9P5

Related

ENSDARP00000096598.4, ENSDART00000105820.5

Conserved Domains (3) summary

cd05709
Location:394 → 483

S2P-M50; Site-2 protease (S2P) class of zinc metalloproteases (MEROPS family M50) cleaves transmembrane domains of substrate proteins, regulating intramembrane proteolysis (RIP) of diverse signal transduction mechanisms. Members of this family use proteolytic ...

cd06162
Location:6 → 210

S2P-M50_PDZ_SREBP; Sterol regulatory element-binding protein (SREBP) Site-2 protease (S2P), a zinc metalloprotease (MEROPS family M50A), regulates intramembrane proteolysis (RIP) of SREBP and is part of a signal transduction mechanism involved in sterol and lipid ...

cl00117
Location:230 → 270

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...