Aliases for FKBP1B Gene
Aliases for FKBP1B Gene
External Ids for FKBP1B Gene
- HGNC: 3712
- Entrez Gene: 2281
- Ensembl: ENSG00000119782
- OMIM: 600620
- UniProtKB: P68106
Previous HGNC Symbols for FKBP1B Gene
- FKBP1L
Previous GeneCards Identifiers for FKBP1B Gene
- GC02P024188
- GC02P024365
- GC02P024230
- GC02P024248
- GC02P024249
- GC02P024184
- GC02P024126
- GC02P024272
Summaries for FKBP1B Gene
-
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]
GeneCards Summary for FKBP1B Gene
FKBP1B (FK506 Binding Protein 1B) is a Protein Coding gene. Diseases associated with FKBP1B include Catecholaminergic Polymorphic Ventricular Tachycardia and Heart Disease. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is FKBP1A.
UniProtKB/Swiss-Prot for FKBP1B Gene
-
Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
Additional gene information for FKBP1B Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP1B Gene
Genomics for FKBP1B Gene
GeneHancer (GH) Regulatory Elements for FKBP1B Gene
Promoters and enhancers for FKBP1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around FKBP1B on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FKBP1B gene promoter:
-
- Sp1
- Ik-1
- YY1
- RREB-1
- FOXC1
Regulatory Element Products
Genomic Locations for FKBP1B Gene
Genomic Locations for FKBP1B Gene
- chr2:24,049,701-24,067,743
- (GRCh38/hg38)
- Size:
- 18,043 bases
- Orientation:
- Plus strand
- chr2:24,272,571-24,286,551
- (GRCh37/hg19)
- Size:
- 13,981 bases
- Orientation:
- Plus strand
Genomic View for FKBP1B Gene
Genes around FKBP1B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p23.3 by Entrez Gene
- 2p23.3 by HGNC
- 2p23.3 by Ensembl
FKBP1B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FKBP1B Gene
Proteins for FKBP1B Gene
-
Protein details for FKBP1B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P68106-FKB1B_HUMAN
- Recommended name:
- Peptidyl-prolyl cis-trans isomerase FKBP1B
- Protein Accession:
- P68106
- Q13664
- Q16645
- Q53TM2
- Q9BQ40
Protein attributes for FKBP1B Gene
- Size:
- 108 amino acids
- Molecular mass:
- 11783 Da
- Quaternary structure:
-
- Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with RYR2.
Three dimensional structures from OCA and Proteopedia for FKBP1B Gene
Alternative splice isoforms for FKBP1B Gene
- UniProtKB/Swiss-Prot:
Protein Expression for FKBP1B Gene
Post-translational modifications for FKBP1B Gene
Other Protein References for FKBP1B Gene
Antibody Products
- R&D Systems Antibodies for FKBP1B (FKBP12.6)
-
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-
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-
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Protein Products
-
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-
Abcam proteins for FKBP1B
Assay Products
No data available for DME Specific Peptides for FKBP1B Gene
Domains & Families for FKBP1B Gene
Gene Families for FKBP1B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for FKBP1B Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FKBP1B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P68106- Family:
-
- Belongs to the FKBP-type PPIase family. FKBP1 subfamily.
Function for FKBP1B Gene
Molecular function for FKBP1B Gene
- UniProtKB/Swiss-Prot Function:
- Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Peptidylproline (omega=180) = peptidylproline (omega=0).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by both FK506 and rapamycin.
Enzyme Numbers (IUBMB) for FKBP1B Gene
Phenotypes From GWAS Catalog for FKBP1B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003755 | peptidyl-prolyl cis-trans isomerase activity | IEA,IDA | 7592869 |
| GO:0005102 | signaling receptor binding | IPI | 10830164 |
| GO:0005219 | contributes_to ryanodine-sensitive calcium-release channel activity | TAS | 11322937 |
| GO:0005515 | protein binding | IPI | 7592869 |
| GO:0005528 | FK506 binding | IEA,IDA | 7592869 |
Phenotypes for FKBP1B Gene
- MGI mutant phenotypes for FKBP1B:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for FKBP1B:
Animal Models for FKBP1B Gene
Animal Model Products
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-
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miRNA for FKBP1B Gene
- miRTarBase miRNAs that target FKBP1B
miRNA Products
Inhibitory RNA Products
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- Sino Biological Human cDNA Clone for FKBP1B
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Cell Line Products
-
Horizon Cell Lines for FKBP1B
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FKBP1B Gene
Localization for FKBP1B Gene
Subcellular locations from UniProtKB/Swiss-Prot for FKBP1B Gene
- Cytoplasm. Sarcoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 12443530 |
| GO:0005829 | cytosol | IC | 7592869 |
| GO:0016020 | membrane | IDA | 12443530 |
| GO:0016529 | sarcoplasmic reticulum | IEA | -- |
| GO:0030018 | Z disc | IDA | 20431056 |
Pathways & Interactions for FKBP1B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Ion channel transport | ||
| 3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for FKBP1B Gene
6 Reactome pathways for FKBP1B Gene
1 PharmGKB pathway for FKBP1B Gene
Interacting Proteins for FKBP1B Gene
Selected Interacting proteins:
P68106-FKB1B_HUMAN
ENSP00000370373
for FKBP1B Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FKBP1B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000413 | protein peptidyl-prolyl isomerization | IDA | 7592869 |
| GO:0002027 | regulation of heart rate | IEA | -- |
| GO:0006458 | de novo protein folding | TAS | 11322937 |
| GO:0006939 | smooth muscle contraction | IEA | -- |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | IEA | -- |
No data available for SIGNOR curated interactions for FKBP1B Gene
Transcripts for FKBP1B Gene
mRNA/cDNA for FKBP1B Gene
- (9) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (106) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000380991 1010 bps (uc002res.4)
- ENST00000380986 952 bps (uc002rer.4)
- ENST00000438630 1137 bps (uc061hbl.1)
- ENST00000496149 1601 bps (uc061hbm.1)
- ENST00000452109 953 bps (uc061hbn.1)
Unigene Clusters for FKBP1B Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FKBP1B
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miRNA Products
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Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f | · | 6g | · | 6h | · | 6i |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP8: |
Expression for FKBP1B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
-
Brain (Nervous System)
This gene is overexpressed in Fetal Brain (46.4), Frontal cortex (9.0), and Peripheral blood mononuclear cells (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FKBP1B Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FKBP1B Gene:
FKBP1BSOURCE GeneReport for Unigene cluster for FKBP1B Gene:
Hs.709461mRNA Expression by UniProt/SwissProt for FKBP1B Gene:
P68106-FKB1B_HUMAN
Tissue specificity:
Detected in heart muscle (at protein level). Isoform 1 and isoform 2 are ubiquitous with highest levels in brain and thymus.
Evidence on tissue expression from TISSUES for FKBP1B Gene
- Heart(4.6)
- Muscle(4.6)
- Nervous system(4.5)
Primer Products
-
OriGene qPCR primer pairs for FKBP1B
-
OriGene qPCR primer pairs and template standards for FKBP1B
- genomics-online: primer clones - Search results for 120 available FKBP1B gene related products
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Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP1B Gene
Orthologs for FKBP1B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FKBP1B 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FKBP1B 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FKBP1B 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fkbp1b 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FKBP1B 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fkbp1b 33 |
|
||
| chicken (Gallus gallus) |
Aves | FKBP1B 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FKBP1B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fkbp1b 33 |
|
||
| Str.15290 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.21934 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fkbp1b 34 33 |
|
OneToOne | |
| zgc73381 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11606 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | FK506-bp2 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | fkb-2 34 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FPR1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3865 34 |
|
OneToMany |
- Species where no ortholog for FKBP1B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for FKBP1B Gene
- ENSEMBL:
- Gene Tree for FKBP1B (if available)
- TreeFam:
- Gene Tree for FKBP1B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FKBP1B: view image
Paralogs for FKBP1B Gene
(16) SIMAP similar genes for FKBP1B Gene using alignment to 4 proteins:
- FKB1B_HUMAN
- F8W6G9_HUMAN
- G5E9U6_HUMAN
- H7C0Y3_HUMAN
Pseudogenes.org Pseudogenes for FKBP1B Gene
Variants for FKBP1B Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000029386 | -- | 24,036,180(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000083777 | -- | 24,043,561(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000175357 | -- | 24,055,174(+) | A/G | intron_variant | |
| rs1000280823 | -- | 24,061,258(+) | A/C | intron_variant | |
| rs1000321587 | -- | 24,066,917(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant |
Residual Variation Intolerance Score:
43.8% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FKBP1B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FKBP1B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP1B Gene
Disorders for FKBP1B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| catecholaminergic polymorphic ventricular tachycardia |
|
|
| heart disease |
|
|
| left ventricular noncompaction |
|
|
Search FKBP1B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FKBP1B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for FKBP1B Gene
Publications for FKBP1B Gene
- 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. (PMID: 7513996) Arakawa H … Nakamura Y (Biochemical and biophysical research communications 1994) 2 3 4 22 58
- Genomic organization, chromosomal localization, and promoter of human gene for FK506-binding protein 12.6. (PMID: 16122887) Nakazawa T … Okamoto H (Gene 2005) 3 4 22 58
- Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. (PMID: 14616768) Benjafield AV … Morris BJ (Clinical genetics 2003) 3 22 44 58
- PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. (PMID: 10830164) Marx SO … Marks AR (Cell 2000) 3 4 22 58
- A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor. (PMID: 7592869) Lam E … Wiederrecht GJ (The Journal of biological chemistry 1995) 3 4 22 58
Products for FKBP1B Gene
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Sources for FKBP1B Gene
- (1) GeneCards
- (2) HGNC
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