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FKBP1B

From Wikipedia, the free encyclopedia
FKBP1B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFKBP1B, FKBP12.6, FKBP1L, OTK4, PKBP1L, PPIase, FK506 binding protein 1B, FKBP prolyl isomerase 1B
External IDsOMIM: 600620; MGI: 1336205; HomoloGene: 68380; GeneCards: FKBP1B; OMA:FKBP1B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004116
NM_054033
NM_001322963
NM_001322964

NM_016863
NM_001378816
NM_001378817
NM_001378818

RefSeq (protein)

NP_001309892
NP_001309893
NP_004107
NP_473374

NP_058559
NP_001365745
NP_001365746
NP_001365747

Location (UCSC)Chr 2: 24.05 – 24.06 MbChr 12: 4.88 – 4.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peptidyl-prolyl cis-trans isomerase FKBP1B is an enzyme that in humans is encoded by the FKBP1B gene.[5][6]

Function

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119782Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020635Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: FKBP1B FK506 binding protein 1B, 12.6 kDa".
  7. ^ 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

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