mutLBSgeneDB |
Gene summary for FKBP1A |
Gene summary |
Basic gene Info. | Gene symbol | FKBP1A |
Gene name | FK506 binding protein 1A, 12kDa | |
Synonyms | FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE | |
Cytomap | UCSC genome browser: 20p13 | |
Type of gene | protein-coding | |
RefGenes | NM_000801.4, NM_001199786.1,NM_054014.3, | |
Description | 12 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 date | 20141207 | |
dbXrefs | MIM : 186945 | |
HGNC : HGNC | ||
Ensembl : ENSG00000088832 | ||
HPRD : 01741 | ||
Vega : OTTHUMG00000031666 | ||
Protein | UniProt: P62942 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FKBP1A | |
BioGPS: 2280 | ||
Pathway | NCI Pathway Interaction Database: FKBP1A | |
KEGG: FKBP1A | ||
REACTOME: FKBP1A | ||
Pathway Commons: FKBP1A | ||
Context | iHOP: FKBP1A | |
ligand binding site mutation search in PubMed: FKBP1A | ||
UCL Cancer Institute: FKBP1A | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0000413 | protein peptidyl-prolyl isomerization | 1696686 | GO:0007183 | SMAD protein complex assembly | 16720724 | GO:0031398 | positive regulation of protein ubiquitination | 16720724 | GO:0032092 | positive regulation of protein binding | 18346205 | GO:0032513 | negative regulation of protein phosphatase type 2B activity | 7592869 | GO:0032925 | regulation of activin receptor signaling pathway | 16720724 | GO:0043206 | extracellular fibril organization | 18346205 | GO:0051280 | negative regulation of release of sequestered calcium ion into cytosol | 12443530 | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 7592869 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 12443530 | GO:1990000 | amyloid fibril formation | 18346205 |
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Ligand binding site mutations for FKBP1A |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D38 | S39C | COAD | 1 | F100 | F100L | COAD | 1 | R43 | R41P | STAD | 1 | I57 | R58Q | UCEC | 1 |
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. |
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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. |
LBS | AAchange of nsSNV | Relative stability change | I57 | R58Q | -0.95363528 | R43 | R41P | -0.89429456 | F100 | F100L | -0.8627027 | D38 | S39C | -0.66782113 |
(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 |
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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) |
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Phenotype information for FKBP1A |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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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 status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational | DB00337 | Pimecrolimus | Small molecule | |
Approved|investigational | DB00864 | Tacrolimus | Small molecule | |
Approved|investigational | DB00877 | Sirolimus | Small molecule | |
Experimental | DB01712 | (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Phenylalanine Ethyl Ester | Small molecule | |
Experimental | DB01723 | {3-[3-(3,4-Dimethoxy-Phenyl)-1-(1-{1-[2-(3,4,5-Trimethoxy-Phenyl)-Butyryl]-Piperidin-2yl}-Vinyloxy)-Propyl]-Phenoxy}-Acetic Acid | Small molecule | |
Experimental | DB01951 | Gpi-1046 | Small molecule | |
Experimental | DB02311 | Methyl Methylsulfinylmethyl Sulfide | Small molecule | |
Experimental | DB02888 | FKB-001 | Small molecule | |
Experimental | DB03338 | Heptyl-Beta-D-Glucopyranoside | Small molecule | |
Experimental | DB03621 | L-709,587 | Small molecule | |
Experimental | DB04012 | (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Leucine | Small molecule | |
Experimental | DB04094 | 4-Hydroxy-2-Butanone | Small molecule | |
Investigational | DB05814 | GPI-1485 | Small molecule | |
Experimental | DB08231 | MYRISTIC ACID | Small molecule | |
Experimental | DB08520 | (21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANE | Small molecule | |
Experimental | DB08597 | 6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of FKBP1A go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of FKBP1A |
Multiple alignments for P62942 in multiple species |
LBS | AA sequence | # species | Species | A82 | ISPDYAYGATG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | A82 | ISSDYAYGATG | 1 | Mus musculus | D38 | DGKKFDSSRDR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D80 | LTISPDYAYGA | 2 | Homo sapiens, Bos taurus | D80 | LIISSDYAYGA | 1 | Mus musculus | D80 | LIISPDYAYGA | 1 | Rattus norvegicus | E55 | TLGKQEVIRGW | 2 | Mus musculus, Rattus norvegicus | E55 | MLGKQEVIRGW | 1 | Homo sapiens | E55 | VLGKQEVIRGW | 1 | Bos taurus | F100 | HATLVFDVELL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F100 | NATLIFDVELL | 1 | Bos taurus | F37 | EDGKKFDSSRD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F47 | DRNKPFKFTLG | 2 | Mus musculus, Rattus norvegicus | F47 | DRNKPFKFMLG | 1 | Homo sapiens | F47 | DRNKPFKFVLG | 1 | Bos taurus | G84 | PDYAYGATGHP | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G84 | SDYAYGATGHP | 1 | Mus musculus | H88 | YGATGHPGIIP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I57 | GKQEVIRGWEE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I8 | VQVETISPGDG | 3 | Homo sapiens, Bos taurus, Mus musculus | I8 | VQVETISSGDG | 1 | Rattus norvegicus | I91 | TGHPGIIPPHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I91 | TGHPGIIPPNA | 1 | Bos taurus | I92 | GHPGIIPPHAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I92 | GHPGIIPPNAT | 1 | Bos taurus | Q54 | FTLGKQEVIRG | 2 | Mus musculus, Rattus norvegicus | Q54 | FMLGKQEVIRG | 1 | Homo sapiens | Q54 | FVLGKQEVIRG | 1 | Bos taurus | R43 | DSSRDRNKPFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S9 | QVETISPGDGR | 3 | Homo sapiens, Bos taurus, Mus musculus | S9 | QVETISSGDGR | 1 | Rattus norvegicus | T86 | YAYGATGHPGI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V56 | LGKQEVIRGWE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W60 | EVIRGWEEGVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y27 | TCVVHYTGMLE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y83 | SPDYAYGATGH | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Y83 | SSDYAYGATGH | 1 | Mus musculus |
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