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MBTPS1 membrane bound transcription factor peptidase, site 1 [ Homo sapiens (human) ]

Gene ID: 8720, updated on 27-Jun-2020

Summary

Official Symbol
MBTPS1provided by HGNC
Official Full Name
membrane bound transcription factor peptidase, site 1provided by HGNC
Primary source
HGNC:HGNC:15456
See related
Ensembl:ENSG00000140943 MIM:603355
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S1P; PCSK8; SEDKF; SKI-1
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in thyroid (RPKM 38.5), ovary (RPKM 28.3) and 25 other tissues See more
Orthologs

Genomic context

See MBTPS1 in Genome Data Viewer
Location:
16q23.3-q24.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (84053763..84116942, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84087368..84150517, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene solute carrier family 38 member 8 Neighboring gene RNA, 5S ribosomal pseudogene 432 Neighboring gene polo like kinase 1 pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0091, MGC138711, MGC138712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
ATF6-mediated unfolded protein response TAS
Traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane protein intracellular domain proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-bound transcription factor site-1 protease
Names
endopeptidase S1P
proprotein convertase subtilisin/kexin type 8
site-1 protease
subtilisin/kexin isozyme-1
NP_003782.1
XP_016879305.1
XP_016879306.1
XP_024306245.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033017.1 RefSeqGene

    Range
    4971..68150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003791.4NP_003782.1  membrane-bound transcription factor site-1 protease preproprotein

    See identical proteins and their annotated locations for NP_003782.1

    Status: REVIEWED

    Source sequence(s)
    BC114555, BM680126, BP364386, D42053
    Consensus CDS
    CCDS10941.1
    UniProtKB/Swiss-Prot
    Q14703
    Related
    ENSP00000344223.3, ENST00000343411.8
    Conserved Domains (3) summary
    cd07479
    Location:203455
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
    pfam00082
    Location:209464
    Peptidase_S8; Subtilase family
    pfam14258
    Location:651724
    DUF4350; Domain of unknown function (DUF4350)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    84053763..84116942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023816.2XP_016879305.1  membrane-bound transcription factor site-1 protease isoform X1

  2. XM_017023817.2XP_016879306.1  membrane-bound transcription factor site-1 protease isoform X2

    Conserved Domains (1) summary
    pfam14258
    Location:155228
    DUF4350; Domain of unknown function (DUF4350)
  3. XM_024450477.1XP_024306245.1  membrane-bound transcription factor site-1 protease isoform X2

    Conserved Domains (1) summary
    pfam14258
    Location:155228
    DUF4350; Domain of unknown function (DUF4350)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_201268.1: Suppressed sequence

    Description
    NM_201268.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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