FKBP1B

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 (tacrolimus) and rapamycin (sirolimus). It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms.

Defective interaction between FKB1B and the ryanodine receptor is thought to be a potential mechanism underlying the arrhythmias seen in those with the genetic condition catecholaminergic polymorphic ventricular tachycardia.{{Cite journal|last1=Venetucci|first1=Luigi|last2=Denegri|first2=Marco|last3=Napolitano|first3=Carlo|last4=Priori|first4=Silvia G.|date=October 2012|title=Inherited calcium channelopathies in the pathophysiology of arrhythmias|journal=Nature Reviews. Cardiology|volume=9|issue=10|pages=561–575|doi=10.1038/nrcardio.2012.93|issn=1759-5010|pmid=22733215|s2cid=24883043}}

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• {{cite journal | vauthors = Schiene-Fischer C, Yu C | title = Receptor accessory folding helper enzymes: the functional role of peptidyl prolyl cis/trans isomerases | journal = FEBS Letters | volume = 495 | issue = 1–2 | pages = 1–6 | date = April 2001 | pmid = 11322937 | doi = 10.1016/S0014-5793(01)02326-2 | s2cid = 42263861 | doi-access = free }}
• {{cite journal | vauthors = Lam E, Martin MM, Timerman AP, Sabers C, Fleischer S, Lukas T, Abraham RT, O'Keefe SJ, O'Neill EA, Wiederrecht GJ | title = A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor | journal = The Journal of Biological Chemistry | volume = 270 | issue = 44 | pages = 26511–22 | date = November 1995 | pmid = 7592869 | doi = 10.1074/jbc.270.44.26511 | doi-access = free }}
• {{cite journal | vauthors = Noguchi N, Takasawa S, Nata K, Tohgo A, Kato I, Ikehata F, Yonekura H, Okamoto H | title = Cyclic ADP-ribose binds to FK506-binding protein 12.6 to release Ca2+ from islet microsomes | journal = The Journal of Biological Chemistry | volume = 272 | issue = 6 | pages = 3133–6 | date = February 1997 | pmid = 9013543 | doi = 10.1074/jbc.272.6.3133 | doi-access = free }}
• {{cite journal | vauthors = Deivanayagam CC, Carson M, Thotakura A, Narayana SV, Chodavarapu RS | title = Structure of FKBP12.6 in complex with rapamycin | journal = Acta Crystallographica D | volume = 56 | issue = Pt 3 | pages = 266–71 | date = March 2000 | pmid = 10713512 | doi = 10.1107/S0907444999016571 }}
• {{cite journal | vauthors = Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR | title = PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts | journal = Cell | volume = 101 | issue = 4 | pages = 365–76 | date = May 2000 | pmid = 10830164 | doi = 10.1016/S0092-8674(00)80847-8 | s2cid = 6496567 | doi-access = free }}
• {{cite journal | vauthors = Jeyakumar LH, Ballester L, Cheng DS, McIntyre JO, Chang P, Olivey HE, Rollins-Smith L, Barnett JV, Murray K, Xin HB, Fleischer S | title = FKBP binding characteristics of cardiac microsomes from diverse vertebrates | journal = Biochemical and Biophysical Research Communications | volume = 281 | issue = 4 | pages = 979–86 | date = March 2001 | pmid = 11237759 | doi = 10.1006/bbrc.2001.4444 }}
• {{cite journal | vauthors = George CH, Sorathia R, Bertrand BM, Lai FA | title = In situ modulation of the human cardiac ryanodine receptor (hRyR2) by FKBP12.6 | journal = The Biochemical Journal | volume = 370 | issue = Pt 2 | pages = 579–89 | date = March 2003 | pmid = 12443530 | pmc = 1223191 | doi = 10.1042/BJ20021433 }}
• {{cite journal | vauthors = Masumiya H, Wang R, Zhang J, Xiao B, Chen SR | title = Localization of the 12.6-kDa FK506-binding protein (FKBP12.6) binding site to the NH2-terminal domain of the cardiac Ca2+ release channel (ryanodine receptor) | journal = The Journal of Biological Chemistry | volume = 278 | issue = 6 | pages = 3786–92 | date = February 2003 | pmid = 12446682 | doi = 10.1074/jbc.M210962200 | doi-access = free }}
• {{cite journal | vauthors = Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M | title = The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations | journal = Biochemical and Biophysical Research Communications | volume = 299 | issue = 4 | pages = 594–8 | date = December 2002 | pmid = 12459180 | doi = 10.1016/S0006-291X(02)02689-X }}
• {{cite journal | vauthors = Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 26 | pages = 16899–903 | date = December 2002 | pmid = 12477932 | pmc = 139241 | doi = 10.1073/pnas.242603899 | bibcode = 2002PNAS...9916899M | doi-access = free }}
• {{cite journal | vauthors = George CH, Higgs GV, Mackrill JJ, Lai FA | title = Dysregulated ryanodine receptors mediate cellular toxicity: restoration of normal phenotype by FKBP12.6 | journal = The Journal of Biological Chemistry | volume = 278 | issue = 31 | pages = 28856–64 | date = August 2003 | pmid = 12754204 | doi = 10.1074/jbc.M212440200 | doi-access = free }}
• {{cite journal | vauthors = Nishanian TG, Waldman T | title = Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor | journal = Biochemical and Biophysical Research Communications | volume = 323 | issue = 1 | pages = 91–7 | date = October 2004 | pmid = 15351706 | doi = 10.1016/j.bbrc.2004.08.060 }}
• {{cite journal | vauthors = Maalej A, Mbarki F, Rebai A, Karray F, Jouida J, Abid M, Ayadi H | title = Evidence of association between FKBP1B and thyroid autoimmune disorders in a large Tunisian family | journal = Autoimmunity | volume = 37 | issue = 3 | pages = 237–9 | date = May 2004 | pmid = 15497458 | doi = 10.1080/08916930410001702478 | s2cid = 31963934 }}
• {{cite journal | vauthors = Zissimopoulos S, Lai FA | title = Interaction of FKBP12.6 with the cardiac ryanodine receptor C-terminal domain | journal = The Journal of Biological Chemistry | volume = 280 | issue = 7 | pages = 5475–85 | date = February 2005 | pmid = 15591045 | doi = 10.1074/jbc.M412954200 | doi-access = free }}
• {{cite journal | vauthors = Aizawa Y, Ueda K, Komura S, Washizuka T, Chinushi M, Inagaki N, Matsumoto Y, Hayashi T, Takahashi M, Nakano N, Yasunami M, Kimura A, Hiraoka M, Aizawa Y | title = A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia | journal = International Journal of Cardiology | volume = 99 | issue = 2 | pages = 343–5 | date = March 2005 | pmid = 15749201 | doi = 10.1016/j.ijcard.2003.11.050 }}
• {{cite journal | vauthors = Wehrens XH, Lehnart SE, Reiken S, van der Nagel R, Morales R, Sun J, Cheng Z, Deng SX, de Windt LJ, Landry DW, Marks AR | title = Enhancing calstabin binding to ryanodine receptors improves cardiac and skeletal muscle function in heart failure | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 102 | issue = 27 | pages = 9607–12 | date = July 2005 | pmid = 15972811 | pmc = 1172237 | doi = 10.1073/pnas.0500353102 | bibcode = 2005PNAS..102.9607W | doi-access = free }}

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Category:EC 5.2.1

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