|Institutional Source||Beutler Lab|
|Gene Name||membrane-bound transcription factor peptidase, site 1|
|Synonyms||subtilisin/kexin isozyme-1, SKI-1, site-1 protease, S1P, 0610038M03Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0485 (G1)|
|Chromosomal Location||119508156-119558735 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 119522601 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000095965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081381] [ENSMUST00000098362]|
|Coding Region Coverage||
|Validation Efficiency||100% (95/95)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mbtps1||
(F):5'- GCCCACAATCAGCTCTATAGTCAGC -3'
(R):5'- AGGACTCTGTGAGCCTTATCCCTG -3'
(F):5'- ACTGGCCTATCAGTGGTCATC -3'
(R):5'- AGCCTTATCCCTGCATCATGTTAC -3'