• Gene id: 8720

Gene Summary

• Gene Symbol: MBTPS1   Gene   UCSC   Ensembl
• Aliases: PCSK8, S1P, SEDKF, SKI-1
• Gene name: membrane bound transcription factor peptidase, site 1
• Alternate names: membrane-bound transcription factor site-1 protease, endopeptidase S1P, proprotein convertase subtilisin/kexin type 8, site-1 protease, subtilisin/kexin isozyme-1,
• Gene location: 16q23.3-q24.1 (84116941: 84053762)     Exons: 24     NC_000016.10
• Gene summary(Entrez): 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 under
• OMIM: 603355

Protein Summary

• Protein general information: Q14703  
  • Name: Membrane bound transcription factor site 1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin isozyme 1) (SKI 1)
  • Length: 1052  
  • Mass: 117749
  • Tissue specificity: Widely expressed.
• Sequence:

  MKLVNIWLLLLVVLLCGKKHLGDRLEKKSFEKAPCPGCSHLTLKVEFSSTVVEYEYIVAFNGYFTAKARNSFISS
  ALKSSEVDNWRIIPRNNPSSDYPSDFEVIQIKEKQKAGLLTLEDHPNIKRVTPQRKVFRSLKYAESDPTVPCNET
  RWSQKWQSSRPLRRASLSLGSGFWHATGRHSSRRLLRAIPRQVAQTLQADVLWQMGYTGANVRVAVFDTGLSEKH
  PHFKNVKERTNWTNERTLDDGLGHGTFVAGVIASMRECQGFAPDAELHIFRVFTNNQVSYTSWFLDAFNYAILKK
  IDVLNLSIGGPDFMDHPFVDKVWELTANNVIMVSAIGNDGPLYGTLNNPADQMDVIGVGGIDFEDNIARFSSRGM
  TTWELPGGYGRMKPDIVTYGAGVRGSGVKGGCRALSGTSVASPVVAGAVTLLVSTVQKRELVNPASMKQALIASA
  RRLPGVNMFEQGHGKLDLLRAYQILNSYKPQASLSPSYIDLTECPYMWPYCSQPIYYGGMPTVVNVTILNGMGVT
  GRIVDKPDWQPYLPQNGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASWEGIAQGHVMITVASPAETESKNGAE
  QTSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRDNLRMKNDPLDWNGDHIHTNFRDMYQHLRSMGYFV
  EVLGAPFTCFDASQYGTLLMVDSEEEYFPEEIAKLRRDVDNGLSLVIFSDWYNTSVMRKVKFYDENTRQWWMPDT
  GGANIPALNELLSVWNMGFSDGLYEGEFTLANHDMYYASGCSIAKFPEDGVVITQTFKDQGLEVLKQETAVVENV
  PILGLYQIPAEGGGRIVLYGDSNCLDDSHRQKDCFWLLDALLQYTSYGVTPPSLSHSGNRQRPPSGAGSVTPERM
  EGNHLHRYSKVLEAHLGDPKPRPLPACPRLSWAKPQPLNETAPSNLWKHQKLLSIDLDKVVLPNFRSNRPQVRPL
  SPGESGAWDIPGGIMPGRYNQEVGQTIPVFAFLGAMVVLAFFVVQINKAKSRPKRRKPRVKRPQLMQQVHPPKTP
  SV

• Structural information:
  • Protein Domains: (190..47-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240"-)
  • Interpro: IPR000209  IPR036852  IPR022398  IPR023828  IPR015500   IPR034185  
  • Prosite: PS51892 PS00137 PS00138
  • CDD: cd07479
  • STRING: ENSP00000344223
• Other Databases: GeneCards:  MBTPS1  Malacards:  MBTPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0031293	membrane protein intracellular domain proteolysis	ISS	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0007040	lysosome organization	IMP	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0060627	regulation of vesicle-mediated transport	IMP	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	TAS	biological process
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005795	Golgi stack	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0006606	protein import into nucleus	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq