Human Gene FKBP1B (uc002res.3)
  Description: Homo sapiens FK506 binding protein 1B, 12.6 kDa (FKBP1B), transcript variant 2, mRNA.
RefSeq Summary (NM_054033): 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 and rapamycin. 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. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:24,272,584-24,286,550 Size: 13,967 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr2:24,272,720-24,285,933 Size: 13,214 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:24,272,584-24,286,550)mRNA (may differ from genome)Protein (80 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
ReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FKBP1B
CDC HuGE Published Literature: FKBP1B
Positive Disease Associations: quantitative traits
Related Studies:
  1. quantitative traits
    Lowe ,et al. 2009, Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae, PLoS genetics 2009 5- 2 : e1000365. [PubMed 19197348]

-  MalaCards Disease Associations
  MalaCards Gene Search: FKBP1B
Diseases sorted by gene-association score: catecholaminergic polymorphic ventricular tachycardia (8), heart disease (2), left ventricular noncompaction (2), ventricular tachycardia, catecholaminergic polymorphic, 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.86 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 63.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.10136-0.508 Picture PostScript Text
3' UTR -191.81617-0.311 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase

SCOP Domains:
54534 - FKBP-like

ModBase Predicted Comparative 3D Structure on P68106-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC050998 - Homo sapiens FK506 binding protein 1B, 12.6 kDa, mRNA (cDNA clone IMAGE:4860952), partial cds.
BC002614 - Homo sapiens FK506 binding protein 1B, 12.6 kDa, mRNA (cDNA clone MGC:2179 IMAGE:3161896), complete cds.
S69800 - OTK4=peptidyl-prolyl cis-trans isomerase {alternatively spliced, clone 4-1} [human, fetal brain, mRNA, 797 nt].
S69815 - OTK4=peptidyl-prolyl cis-trans isomerase {clone 6-1} [human, fetal brain, mRNA, 881 nt].
D38037 - Homo sapiens mRNA for hFKBP12-like protein, complete cds.
E09950 - cDNA encoding human FK506 binding protein which have PPIase activity.
L37086 - Homo sapiens FK-506 binding protein (fkbp12.6) gene, complete cds.
AF322070 - Homo sapiens FK506-binding protein FKBP9 mRNA, complete cds.
KJ896820 - Synthetic construct Homo sapiens clone ccsbBroadEn_06214 FKBP1B-like gene, encodes complete protein.
JD365908 - Sequence 346932 from Patent EP1572962.
JD558042 - Sequence 539066 from Patent EP1572962.
JD058340 - Sequence 39364 from Patent EP1572962.
JD073845 - Sequence 54869 from Patent EP1572962.
JD540467 - Sequence 521491 from Patent EP1572962.
JD419299 - Sequence 400323 from Patent EP1572962.
JD294600 - Sequence 275624 from Patent EP1572962.
JD275389 - Sequence 256413 from Patent EP1572962.
JD154294 - Sequence 135318 from Patent EP1572962.
JD052863 - Sequence 33887 from Patent EP1572962.
JD259808 - Sequence 240832 from Patent EP1572962.
JD305896 - Sequence 286920 from Patent EP1572962.
JD549519 - Sequence 530543 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P68106 (Reactome details) participates in the following event(s):

R-HSA-2855020 RYR tetramers transport Ca2+ from sarcoplasmic reticulum lumen to cytosol
R-HSA-2672351 Stimuli-sensing channels
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: FKBP12.6, FKBP1L, FKBP9, NM_054033, NP_473374, OTK4, P68106-2
UCSC ID: uc002res.3
RefSeq Accession: NM_054033
Protein: P68106-2, splice isoform of P68106 CCDS: CCDS33153.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_054033.2
exon count: 4CDS single in 3' UTR: no RNA size: 1016
ORF size: 243CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 686.00frame shift in genome: no % Coverage: 98.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.