FKBP1B (FKBP prolyl isomerase 1B)

2016-10-01  

Identity

HGNC
FKBP1B
LOCATION
2p23.3
LOCUSID
2281
ALIAS
FKBP12.6,FKBP1L,OTK4,PKBP1L,PPIase

Other Information

Locus ID:

NCBI: 2281
MIM: 600620
HGNC: 3712
Ensembl: ENSG00000119782

Variants:

dbSNP: 2281
ClinVar: 2281
TCGA: ENSG00000119782
COSMIC: FKBP1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119782ENST00000380986P68106
ENSG00000119782ENST00000380991P68106
ENSG00000119782ENST00000421839H7C0Y3
ENSG00000119782ENST00000438630G5E9U6
ENSG00000119782ENST00000452109F8W6G9

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
159728112005Enhancing calstabin binding to ryanodine receptors improves cardiac and skeletal muscle function in heart failure.65
204310562010Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks.62
179214532007Removal of FKBP12.6 does not alter the conductance and activation of the cardiac ryanodine receptor or the susceptibility to stress-induced ventricular arrhythmias.39
173133732007K201 (JTV519) suppresses spontaneous Ca2+ release and [3H]ryanodine binding to RyR2 irrespective of FKBP12.6 association.35
172001092007Redox sensitivity of the ryanodine receptor interaction with FK506-binding protein.27
124466822003Localization 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).25
204043442010Mapping the ryanodine receptor FK506-binding protein subunit using fluorescence resonance energy transfer.23
155910452005Interaction of FKBP12.6 with the cardiac ryanodine receptor C-terminal domain.22
238876392013Sirolimus-FKBP12.6 impairs endothelial barrier function through protein kinase C-α activation and disruption of the p120-vascular endothelial cadherin interaction.16
277608562017High-Throughput Screens to Discover Small-Molecule Modulators of Ryanodine Receptor Calcium Release Channels.14

Citation

Dessen P

FKBP1B (FKBP prolyl isomerase 1B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56208/fkbp1b