mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for FKBP1A
Gene summary
Basic gene Info.Gene symbolFKBP1A
Gene nameFK506 binding protein 1A, 12kDa
CytomapUCSC genome browser: 20p13
Type of geneprotein-coding
Description12 kDa FK506-binding protein12 kDa FKBPFK506 binding protein12FK506-binding protein 1FK506-binding protein 12FK506-binding protein 1A (12kD)FK506-binding protein, T-cell, 12-kDFKBP12-Exip3PPIase FKBP1Acalstabin 1calstabin-1immunophilin FKBP12p
Modification date20141207
dbXrefs MIM : 186945
Ensembl : ENSG00000088832
HPRD : 01741
Vega : OTTHUMG00000031666
ProteinUniProt: P62942
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FKBP1A
BioGPS: 2280
PathwayNCI Pathway Interaction Database: FKBP1A
Pathway Commons: FKBP1A
ContextiHOP: FKBP1A
ligand binding site mutation search in PubMed: FKBP1A
UCL Cancer Institute: FKBP1A
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000413protein peptidyl-prolyl isomerization1696686
GO:0007183SMAD protein complex assembly16720724
GO:0031398positive regulation of protein ubiquitination16720724
GO:0032092positive regulation of protein binding18346205
GO:0032513negative regulation of protein phosphatase type 2B activity7592869
GO:0032925regulation of activin receptor signaling pathway16720724
GO:0043206extracellular fibril organization18346205
GO:0051280negative regulation of release of sequestered calcium ion into cytosol12443530
GO:0060314regulation of ryanodine-sensitive calcium-release channel activity7592869
GO:0060315negative regulation of ryanodine-sensitive calcium-release channel activity12443530
GO:1990000amyloid fibril formation18346205

Ligand binding site mutations for FKBP1A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for FKBP1A
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for FKBP1A from PDB

Differential gene expression and gene-gene network for FKBP1A
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of FKBP1A and the right PPI network was created from samples without mutations in the LBS of FKBP1A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for FKBP1A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for FKBP1A
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00337PimecrolimusSmall molecule
Approved|investigationalDB00864TacrolimusSmall molecule
Approved|investigationalDB00877SirolimusSmall molecule
ExperimentalDB01712(3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Phenylalanine Ethyl EsterSmall molecule
ExperimentalDB01723{3-[3-(3,4-Dimethoxy-Phenyl)-1-(1-{1-[2-(3,4,5-Trimethoxy-Phenyl)-Butyryl]-Piperidin-2yl}-Vinyloxy)-Propyl]-Phenoxy}-Acetic AcidSmall molecule
ExperimentalDB01951Gpi-1046Small molecule
ExperimentalDB02311Methyl Methylsulfinylmethyl SulfideSmall molecule
ExperimentalDB02888FKB-001Small molecule
ExperimentalDB03338Heptyl-Beta-D-GlucopyranosideSmall molecule
ExperimentalDB03621L-709,587Small molecule
ExperimentalDB04012(3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-LeucineSmall molecule
ExperimentalDB040944-Hydroxy-2-ButanoneSmall molecule
InvestigationalDB05814GPI-1485Small molecule
ExperimentalDB08231MYRISTIC ACIDSmall molecule
ExperimentalDB08520(21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANESmall molecule
ExperimentalDB085976-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FKBP1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of FKBP1A
Multiple alignments for P62942 in multiple species
LBSAA sequence# speciesSpecies
A82ISPDYAYGATG3Homo sapiens, Bos taurus, Rattus norvegicus
A82ISSDYAYGATG1Mus musculus
D38DGKKFDSSRDR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D80LTISPDYAYGA2Homo sapiens, Bos taurus
D80LIISSDYAYGA1Mus musculus
D80LIISPDYAYGA1Rattus norvegicus
E55TLGKQEVIRGW2Mus musculus, Rattus norvegicus
E55MLGKQEVIRGW1Homo sapiens
F100HATLVFDVELL3Homo sapiens, Mus musculus, Rattus norvegicus
F100NATLIFDVELL1Bos taurus
F37EDGKKFDSSRD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F47DRNKPFKFTLG2Mus musculus, Rattus norvegicus
F47DRNKPFKFMLG1Homo sapiens
G84PDYAYGATGHP3Homo sapiens, Bos taurus, Rattus norvegicus
G84SDYAYGATGHP1Mus musculus
H88YGATGHPGIIP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I57GKQEVIRGWEE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I8VQVETISPGDG3Homo sapiens, Bos taurus, Mus musculus
I8VQVETISSGDG1Rattus norvegicus
I91TGHPGIIPPHA3Homo sapiens, Mus musculus, Rattus norvegicus
I92GHPGIIPPHAT3Homo sapiens, Mus musculus, Rattus norvegicus
Q54FTLGKQEVIRG2Mus musculus, Rattus norvegicus
Q54FMLGKQEVIRG1Homo sapiens
R43DSSRDRNKPFK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S9QVETISPGDGR3Homo sapiens, Bos taurus, Mus musculus
S9QVETISSGDGR1Rattus norvegicus
T86YAYGATGHPGI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V56LGKQEVIRGWE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
W60EVIRGWEEGVA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y27TCVVHYTGMLE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y83SPDYAYGATGH3Homo sapiens, Bos taurus, Rattus norvegicus
Y83SSDYAYGATGH1Mus musculus

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