FKBP1B
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Protein-coding gene in humans
Peptidyl-prolyl cis-trans isomerase FKBP1B is an enzyme that in humans is encoded by the FKBP1B gene.[5] [6]
Function
[edit ]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.[6]
Clinical significance
[edit ]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.[7]
References
[edit ]- ^ a b c GRCh38: Ensembl release 89: ENSG00000119782 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020635 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Arakawa H, Nagase H, Hayashi N, Fujiwara T, Ogawa M, Shin S, Nakamura Y (April 1994). "Molecular cloning and expression of a novel human gene that is highly homologous to human FK506-binding protein 12kDa (hFKBP-12) and characterization of two alternatively spliced transcripts". Biochemical and Biophysical Research Communications. 200 (2): 836–43. doi:10.1006/bbrc.1994.1527. PMID 7513996.
- ^ a b "Entrez Gene: FKBP1B FK506 binding protein 1B, 12.6 kDa".
- ^ Venetucci, Luigi; Denegri, Marco; Napolitano, Carlo; Priori, Silvia G. (October 2012). "Inherited calcium channelopathies in the pathophysiology of arrhythmias". Nature Reviews. Cardiology. 9 (10): 561–575. doi:10.1038/nrcardio.2012.93. ISSN 1759-5010. PMID 22733215. S2CID 24883043.
Further reading
[edit ]- Schiene-Fischer C, Yu C (April 2001). "Receptor accessory folding helper enzymes: the functional role of peptidyl prolyl cis/trans isomerases". FEBS Letters. 495 (1–2): 1–6. doi:10.1016/S0014-5793(01)02326-2 . PMID 11322937. S2CID 42263861.
- Lam E, Martin MM, Timerman AP, Sabers C, Fleischer S, Lukas T, Abraham RT, O'Keefe SJ, O'Neill EA, Wiederrecht GJ (November 1995). "A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor". The Journal of Biological Chemistry. 270 (44): 26511–22. doi:10.1074/jbc.270.44.26511 . PMID 7592869.
- Noguchi N, Takasawa S, Nata K, Tohgo A, Kato I, Ikehata F, Yonekura H, Okamoto H (February 1997). "Cyclic ADP-ribose binds to FK506-binding protein 12.6 to release Ca2+ from islet microsomes". The Journal of Biological Chemistry. 272 (6): 3133–6. doi:10.1074/jbc.272.6.3133 . PMID 9013543.
- Deivanayagam CC, Carson M, Thotakura A, Narayana SV, Chodavarapu RS (March 2000). "Structure of FKBP12.6 in complex with rapamycin". Acta Crystallographica D. 56 (Pt 3): 266–71. doi:10.1107/S0907444999016571. PMID 10713512.
- Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR (May 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell. 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8 . PMID 10830164. S2CID 6496567.
- Jeyakumar LH, Ballester L, Cheng DS, McIntyre JO, Chang P, Olivey HE, Rollins-Smith L, Barnett JV, Murray K, Xin HB, Fleischer S (March 2001). "FKBP binding characteristics of cardiac microsomes from diverse vertebrates". Biochemical and Biophysical Research Communications. 281 (4): 979–86. doi:10.1006/bbrc.2001.4444. PMID 11237759.
- George CH, Sorathia R, Bertrand BM, Lai FA (March 2003). "In situ modulation of the human cardiac ryanodine receptor (hRyR2) by FKBP12.6". The Biochemical Journal. 370 (Pt 2): 579–89. doi:10.1042/BJ20021433. PMC 1223191 . PMID 12443530.
- Masumiya H, Wang R, Zhang J, Xiao B, Chen SR (February 2003). "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)". The Journal of Biological Chemistry. 278 (6): 3786–92. doi:10.1074/jbc.M210962200 . PMID 12446682.
- Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M (December 2002). "The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations". Biochemical and Biophysical Research Communications. 299 (4): 594–8. doi:10.1016/S0006-291X(02)02689-X. PMID 12459180.
- 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 (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
- George CH, Higgs GV, Mackrill JJ, Lai FA (August 2003). "Dysregulated ryanodine receptors mediate cellular toxicity: restoration of normal phenotype by FKBP12.6". The Journal of Biological Chemistry. 278 (31): 28856–64. doi:10.1074/jbc.M212440200 . PMID 12754204.
- Nishanian TG, Waldman T (October 2004). "Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor". Biochemical and Biophysical Research Communications. 323 (1): 91–7. doi:10.1016/j.bbrc.2004年08月06日0. PMID 15351706.
- Maalej A, Mbarki F, Rebai A, Karray F, Jouida J, Abid M, Ayadi H (May 2004). "Evidence of association between FKBP1B and thyroid autoimmune disorders in a large Tunisian family". Autoimmunity. 37 (3): 237–9. doi:10.1080/08916930410001702478. PMID 15497458. S2CID 31963934.
- Zissimopoulos S, Lai FA (February 2005). "Interaction of FKBP12.6 with the cardiac ryanodine receptor C-terminal domain". The Journal of Biological Chemistry. 280 (7): 5475–85. doi:10.1074/jbc.M412954200 . PMID 15591045.
- 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 (March 2005). "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". International Journal of Cardiology. 99 (2): 343–5. doi:10.1016/j.ijcard.2003年11月05日0. PMID 15749201.
- 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 (July 2005). "Enhancing calstabin binding to ryanodine receptors improves cardiac and skeletal muscle function in heart failure". Proceedings of the National Academy of Sciences of the United States of America. 102 (27): 9607–12. Bibcode:2005PNAS..102.9607W. doi:10.1073/pnas.0500353102 . PMC 1172237 . PMID 15972811.
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