Sequence of MBTP2_HUMAN

S2P endopeptidase

O43462

519

57444

186402

Rawson R.B.,Zelenski N.G.,Nijhawan D.,Ye J.,Sakai J.,Hasan M.T.,Chang T.Y.,Brown M.S.,Goldstein J.L.

Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs.

Mol. Cell

1

47-57

1997

186403

Ross M.T.,Grafham D.V.,Coffey A.J.,Scherer S.,McLay K.,Muzny D.,Platzer M.,Howell G.R.,Burrows C.,Bird C.P.,Frankish A.,Lovell F.L.,Howe K.L.,Ashurst J.L.,Fulton R.S.,Sudbrak R.,Wen G.,Jones M.C.,Hurles M.E.,Andrews T.D.,Scott C.E.,Searle S.,Ramser J.,Whittaker A.,Deadman R.,Carter N.P.,Hunt S.E.,Chen R.,Cree A.,Gunaratne P.,Havlak P.,Hodgson A.,Metzker M.L.,Richards S.,Scott G.,Steffen D.,Sodergren E.,Wheeler D.A.,Worley K.C.,Ainscough R.,Ambrose K.D.,Ansari-Lari M.A.,Aradhya S.,Ashwell R.I.,Babbage A.K.,Bagguley C.L.,Ballabio A.,Banerjee R.,Barker G.E.,Barlow K.F.,Barrett I.P.,Bates K.N.,Beare D.M.,Beasley H.,Beasley O.,Beck A.,Bethel G.,Blechschmidt K.,Brady N.,Bray-Allen S.,Bridgeman A.M.,Brown A.J.,Brown M.J.,Bonnin D.,Bruford E.A.,Buhay C.,Burch P.,Burford D.,Burgess J.,Burrill W.,Burton J.,Bye J.M.,Carder C.,Carrel L.,Chako J.,Chapman J.C.,Chavez D.,Chen E.,Chen G.,Chen Y.,Chen Z.,Chinault C.,Ciccodicola A.,Clark S.Y.,Clarke G.,Clee C.M.,Clegg S.,Clerc-Blankenburg K.,Clifford K.,Cobley V.,Cole C.G.,Conquer J.S.,Corby N.,Connor R.E.,David R.,Davies J.,Davis C.,Davis J.,Delgado O.,Deshazo D.,Dhami P.,Ding Y.,Dinh H.,Dodsworth S.,Draper H.,Dugan-Rocha S.,Dunham A.,Dunn M.,Durbin K.J.,Dutta I.,Eades T.,Ellwood M.,Emery-Cohen A.,Errington H.,Evans K.L.,Faulkner L.,Francis F.,Frankland J.,Fraser A.E.,Galgoczy P.,Gilbert J.,Gill R.,Gloeckner G.,Gregory S.G.,Gribble S.,Griffiths C.,Grocock R.,Gu Y.,Gwilliam R.,Hamilton C.,Hart E.A.,Hawes A.,Heath P.D.,Heitmann K.,Hennig S.,Hernandez J.,Hinzmann B.,Ho S.,Hoffs M.,Howden P.J.,Huckle E.J.,Hume J.,Hunt P.J.,Hunt A.R.,Isherwood J.,Jacob L.,Johnson D.,Jones S.,de Jong P.J.,Joseph S.S.,Keenan S.,Kelly S.,Kershaw J.K.,Khan Z.,Kioschis P.,Klages S.,Knights A.J.,Kosiura A.,Kovar-Smith C.,Laird G.K.,Langford C.,Lawlor S.,Leversha M.,Lewis L.,Liu W.,Lloyd C.,Lloyd D.M.,Loulseged H.,Loveland J.E.,Lovell J.D.,Lozado R.,Lu J.,Lyne R.,Ma J.,Maheshwari M.,Matthews L.H.,McDowall J.,McLaren S.,McMurray A.,Meidl P.,Meitinger T.,Milne S.,Miner G.,Mistry S.L.,Morgan M.,Morris S.,Mueller I.,Mullikin J.C.,Nguyen N.,Nordsiek G.,Nyakatura G.,O'dell C.N.,Okwuonu G.,Palmer S.,Pandian R.,Parker D.,Parrish J.,Pasternak S.,Patel D.,Pearce A.V.,Pearson D.M.,Pelan S.E.,Perez L.,Porter K.M.,Ramsey Y.,Reichwald K.,Rhodes S.,Ridler K.A.,Schlessinger D.,Schueler M.G.,Sehra H.K.,Shaw-Smith C.,Shen H.,Sheridan E.M.,Shownkeen R.,Skuce C.D.,Smith M.L.,Sotheran E.C.,Steingruber H.E.,Steward C.A.,Storey R.,Swann R.M.,Swarbreck D.,Tabor P.E.,Taudien S.,Taylor T.,Teague B.,Thomas K.,Thorpe A.,Timms K.,Tracey A.,Trevanion S.,Tromans A.C.,d'Urso M.,Verduzco D.,Villasana D.,Waldron L.,Wall M.,Wang Q.,Warren J.,Warry G.L.,Wei X.,West A.,Whitehead S.L.,Whiteley M.N.,Wilkinson J.E.,Willey D.L.,Williams G.,Williams L.,Williamson A.,Williamson H.,Wilming L.,Woodmansey R.L.,Wray P.W.,Yen J.,Zhang J.,Zhou J.,Zoghbi H.,Zorilla S.,Buck D.,Reinhardt R.,Poustka A.,Rosenthal A.,Lehrach H.,Meindl A.,Minx P.J.,Hillier L.W.,Willard H.F.,Wilson R.K.,Waterston R.H.,Rice C.M.,Vaudin M.,Coulson A.,Nelson D.L.,Weinstock G.,Sulston J.E.,Durbin R.M.,Hubbard T.,Gibbs R.A.,Beck S.,Rogers J.,Bentley D.R.

The DNA sequence of the human X chromosome.

Nature

434

325-337

2005

186404

Zelenski N.G.,Rawson R.B.,Brown M.S.,Goldstein J.L.

Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins.

J. Biol. Chem.

274

21973-21980

1999

186405

Ye J.,Rawson R.B.,Komuro R.,Chen X.,Dave U.P.,Prywes R.,Brown M.S.,Goldstein J.L.

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs.

Mol. Cell

6

1355-1364

2000

186406

Ye J.,Dave U.P.,Grishin N.V.,Goldstein J.L.,Brown M.S.

Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease.

Proc. Natl. Acad. Sci. U.S.A.

97

5123-5128

2000

186407

Oeffner F.,Fischer G.,Happle R.,Konig A.,Betz R.C.,Bornholdt D.,Neidel U.,Boente Mdel C.,Redler S.,Romero-Gomez J.,Salhi A.,Vera-Casano A.,Weirich C.,Grzeschik K.H.

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Am. J. Hum. Genet.

84

459-467

2009

186408

Aten E.,Brasz L.C.,Bornholdt D.,Hooijkaas I.B.,Porteous M.E.,Sybert V.P.,Vermeer M.H.,Vossen R.H.,van der Wielen M.J.,Bakker E.,Breuning M.H.,Grzeschik K.H.,Oosterwijk J.C.,den Dunnen J.T.

Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2.

Hum. Mutat.

31

1125-1133

2010

186409

Haghighi A.,Scott C.A.,Poon D.S.,Yaghoobi R.,Saleh-Gohari N.,Plagnol V.,Kelsell D.P.

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

J. Invest. Dermatol.

133

571-573

2013

186410

Lindert U.,Cabral W.A.,Ausavarat S.,Tongkobpetch S.,Ludin K.,Barnes A.M.,Yeetong P.,Weis M.,Krabichler B.,Srichomthong C.,Makareeva E.N.,Janecke A.R.,Leikin S.,Roethlisberger B.,Rohrbach M.,Kennerknecht I.,Eyre D.R.,Suphapeetiporn K.,Giunta C.,Marini J.C.,Shotelersuk V.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Nat. Commun.

7

11920-11920

2016