Human Gene MBTPS1 (uc002fhi.3) Description and Page Index
Description: Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA. RefSeq Summary (NM_003791): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.232414.1, SRR1803612.128417.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000343411.8/ ENSP00000344223.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr16:84,087,369-84,150,517 Size: 63,149 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr16:84,088,054-84,135,388 Size: 47,335 Coding Exon Count: 22
ID:MBTP1_HUMAN DESCRIPTION: RecName: Full=Membrane-bound transcription factor site-1 protease; EC=22.214.171.124; AltName: Full=Endopeptidase S1P; AltName: Full=Subtilisin/kexin-isozyme 1; Short=SKI-1; Flags: Precursor; FUNCTION: Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His- Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. CATALYTIC ACTIVITY: Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3. COFACTOR: Calcium. ENZYME REGULATION: Inhibited by divalent copper and zinc ions, but not by nickel or cobalt. Inhibited by its prosegment, but not smaller fragments thereof. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=May sort to other organelles, including lysosomal and/or endosomal compartments. TISSUE SPECIFICITY: Widely expressed. INDUCTION: Down-regulated by sterols. PTM: The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic reticulum, and late into a secreted 98 kDa form. The propeptide is autocatalytically removed through an intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8kDa intermediates. SIMILARITY: Belongs to the peptidase S8 family. SEQUENCE CAUTION: Sequence=BAA07653.2; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MBTPS1 CDC HuGE Published Literature: MBTPS1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14703
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.