• Gene id: 2281

Gene Summary

• Gene Symbol: FKBP1B   Gene   UCSC   Ensembl
• Aliases: FKBP12.6, FKBP1L, OTK4, PKBP1L, PPIase
• Gene name: FKBP prolyl isomerase 1B
• Alternate names: peptidyl-prolyl cis-trans isomerase FKBP1B, 12.6 kDa FK506-binding protein, 12.6 kDa FKBP, FK506 binding protein 1B, 12.6 kDa, FK506-binding protein 12.6, FK506-binding protein 1B, FKBP-12.6, FKBP-1B, PPIase FKBP1B, calstabin 2, h-FKBP-12, immunophilin FKBP12.6, rota,
• Gene location: 2p23.3 (24033204: 24067742)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 600620

Protein Summary

• Protein general information: P68106  
  • Name: Peptidyl prolyl cis trans isomerase FKBP1B (PPIase FKBP1B) (EC 5.2.1.8) (12.6 kDa FK506 binding protein) (12.6 kDa FKBP) (FKBP 12.6) (FK506 binding protein 1B) (FKBP 1B) (Immunophilin FKBP12.6) (Rotamase) (h FKBP 12)
  • Length: 108  
  • Mass: 11783
  • Tissue specificity: Detected in heart muscle (at protein level). Isoform 1 and isoform 2 are ubiquitous with highest levels in brain and thymus. {ECO
• Sequence:

  MGVEIETISPGDGRTFPKKGQTCVVHYTGMLQNGKKFDSSRDRNKPFKFRIGKQEVIKGFEEGAAQMSLGQRAKL
  TCTPDVAYGATGHPGVIPPNATLIFDVELLNLE

• Structural information:
  • Protein Domains: (20..10-)
    (/note="PPIase-FKBP-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00277"-)
  • Interpro: IPR023566  IPR001179  
  • Prosite: PS50059
  • PDB: 1C9H 4C02 4IQ2 4IQC 5HKG 5L1D 5T15 5T9M 5T9N 5T9R 5T9S 5T9V 5TA3 5TAL 5TAM 5TAN 5TAP 5TAQ 5TAS 5TAT 5TAU 5TAV 5TAW 5TAX 5TAY 5TAZ 5TB0 5TB1 5TB2 5TB3 5TB4 6JGZ 6JH6 6JHN 6JI0 6JI8 6JII 6JIU 6JIY 6JRR 6JRS
  • PDBsum: 1C9H 4C02 4IQ2 4IQC 5HKG 5L1D 5T15 5T9M 5T9N 5T9R 5T9S 5T9V 5TA3 5TAL 5TAM 5TAN 5TAP 5TAQ 5TAS 5TAT 5TAU 5TAV 5TAW 5TAX 5TAY 5TAZ 5TB0 5TB1 5TB2 5TB3 5TB4 6JGZ 6JH6 6JHN 6JI0 6JI8 6JII 6JIU 6JIY 6JRR 6JRS
  • DIP: 48796
  • STRING: ENSP00000370373
• Other Databases: GeneCards:  FKBP1B  Malacards:  FKBP1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0000413	protein peptidyl-prolyl isomerization	IBA	biological process
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048680	positive regulation of axon regeneration	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0033197	response to vitamin E	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0042098	T cell proliferation	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0019227	neuronal action potential propagation	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA	biological process
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0006939	smooth muscle contraction	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0030551	cyclic nucleotide binding	IEA	molecular function
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005528	FK506 binding	IEA	molecular function
GO:0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0034704	calcium channel complex	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0010459	negative regulation of heart rate	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005528	FK506 binding	IEA	molecular function
GO:0002027	regulation of heart rate	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular function
GO:0019855	calcium channel inhibitor activity	IDA	molecular function
GO:0019855	calcium channel inhibitor activity	IDA	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0005528	FK506 binding	IDA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	TAS	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0000413	protein peptidyl-prolyl isomerization	IDA	biological process
GO:0005829	cytosol	IC	cellular component
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	biological process
GO:0051280	negative regulation of release of sequestered calcium ion into cytosol	IDA	biological process
GO:0051284	positive regulation of sequestering of calcium ion	IDA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0006458	'de novo' protein folding	TAS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0022417	protein maturation by protein folding	TAS	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	TAS	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IGI	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IDA	biological process
GO:0034704	calcium channel complex	IDA	cellular component
GO:0051775	response to redox state	IDA	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IDA	NOT|biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IDA	biological process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	IDA	biological process
GO:0010459	negative regulation of heart rate	ISS	biological process
GO:0042026	protein refolding	TAS	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IMP	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Graves' disease	PMID:15497458
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)