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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FKBP1A Gene

protein-coding   GIFtS: 68
GCID: GC20M001349

FK506 binding protein 1A, 12kDa

(Previous name: FK506-binding protein 1A (12kD) )
(Previous symbol: FKBP1)
 Explore 27 diseases affiliated with
FKBP1A via our new
 Human Malady Compendium 
Biological research products
for FKBP1A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
FK506 Binding Protein 1A, 12kDa1 2     FKBP12-Exip32
FKBP121 2 3 5     PKCI22
FKBP-121 2 3     Calstabin-13
FKBP11 2 3     FK506 Binding Protein122
PKC121 2     FK506-Binding Protein 12
PPIASE1 2     FK506-Binding Protein 122
FK506-Binding Protein 1A (12kD)1 2     FK506-Binding Protein, T-Cell, 12-KD2
Immunophilin FKBP122 3     Peptidyl-Prolyl Cis-Trans Isomerase FKBP1A2
12 KDa FK506-Binding Protein2 3     Protein Kinase C Inhibitor 22
12 KDa FKBP2 3     Rotamase3
FKBP-1A2 3     Calstabin-13
PPIase FKBP1A2 3     Rotamase3
EC 5.2.1.83 8     FK506-Binding Protein 1A3
FKBP12C1     

External Ids:    HGNC: 37111   Entrez Gene: 22802   Ensembl: ENSG000000888327   OMIM: 1869455   UniProtKB: P629423   

Export aliases for FKBP1A gene to outside databases

Previous GC identifers: GC20M001337 GC20M001344 GC20M001297


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FKBP1A:
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. The protein is a cis-trans prolyl isomerase
that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction
proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels,
and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse,
deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular
myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome
contains five pseudogenes related to this gene, at least one of which is transcribed. (provided by RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: FKB1A_HUMAN, P62942
Function: Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing
TGF-beta receptor activation in absence of ligand. Recruites SMAD7 to ACVR1B which prevents the association of SMAD2
and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium
channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline
imidic peptide bonds in oligopeptides

summary for FKBP1A:
Protein ser/thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from
serine and/or threonine residues by the hydrolysis of phosphoric acid monoesters. They directly oppose the
actions of kinases and phosphorylases and therefore play an integral role in many signal transduction
pathways. There are two groups of serine/threonine phosphatases; phosphoprotein phosphatases (e.g. PP1,
calcineurin), which are sensitive to okadaic acid and metallo-phosphatases (e.g. PP2C), which require a
divalent cation, commonly Mg2+, for catalytic activity. Dephosphorylation, depending on the residue that the
phosphate group is removed from, can have a stimulatory or inhibitory effect on the target molecule. This
makes protein Ser/Thr phosphatases essential for many signal transduction pathways. Protein Ser/Thr
phosphatase are regulated by their subcellular localization and by inhibitor proteins, which are
subtype-specific.

Gene Wiki entry for FKBP1A


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FKBP1A gene promoter:
         RFX1   Sp1   MEF-2   p300   E47   MEF-2A   POU2F1   POU2F1a   HSF2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKBP1A promoter sequence
   Search SABiosciences Chromatin IP Primers for FKBP1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FKBP1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

FKBP1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FKBP1A gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M001349:  view genomic region     (about GC identifiers)

Start:
1,349,622 bp from pter      End:
1,373,816 bp from pter
Size:
24,195 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FKB1A_HUMAN, P62942 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase FKBP1A  
Size: 108 amino acids; 11951 Da
Subunit: Interacts directly with RYR1, RYR2 and RYR3. Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and
protein phosphatase 1 (PP1) (By similarity). Interacts with TGFBR1; prevents TGFBR1 phosphorylation by TGFBR2 and
stabilizes it in the inactive conformation. Interacts with ACVR1B and SMAD7
Subcellular location: Cytoplasm
6/41 PDB 3D structures from and Proteopedia for FKBP1A (see all 41):
1A7X (3D)        1B6C (3D)        1BKF (3D)        1BL4 (3D)        1D6O (3D)        1D7H (3D)    
Secondary accessions: D3DVW6 P20071 Q4VC47 Q6FGD9 Q6LEU3 Q9H103 Q9H566

Explore the universe of human proteins at neXtProt for FKBP1A: NX_P62942

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P62942

  • 4/5 DME Specific Peptides for FKBP1A (P62942) (see all 5)
     GKKFDSS  KFDSSRDR  GDGRTFPK  AYGATGHPG 

    FKBP1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_000792.1  NP_001186715.1  NP_463460.1  

    ENSEMBL proteins: 
     ENSP00000383003   ENSP00000371143   ENSP00000371138   ENSP00000371134   ENSP00000409863  
    Reactome Protein details: P62942
    Human Recombinant Protein Products: 
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    Novus Biologicals FKBP1A Proteins
    Novus Biologicals FKBP1A Lysates
    Sino Biological Recombinant Protein for FKBP1A
    ProSpec Recombinant Protein for FKBP1A
    Uscn Proteins for FKBP1A

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12443530
    GO:0005829cytosol TAS--
    GO:0014802terminal cisterna ISS1374404
    GO:0016020membrane IDA12443530
    GO:0030424axon IBA--


    FKBP1A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FKBP1A


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FKBP1A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR023566 PPIase_FKBP
     IPR001179 PPIase_FKBP_dom

    Graphical View of Domain Structure for InterPro Entry P62942

    ProtoNet protein and cluster: P62942

    UniProtKB/Swiss-Prot: FKB1A_HUMAN, P62942
    Similarity: Belongs to the FKBP-type PPIase family. FKBP1 subfamily
    Similarity: Contains 1 PPIase FKBP-type domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FKB1A_HUMAN, P62942
    Function: Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing
    TGF-beta receptor activation in absence of ligand. Recruites SMAD7 to ACVR1B which prevents the association of SMAD2
    and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium
    channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline
    imidic peptide bonds in oligopeptides
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)
    Enzyme regulation: Inhibited by both FK506 and rapamycin

         Genatlas biochemistry entry for FKBP1A:
    FK506-binding protein 1A,T cell binding protein FKBP-12 for the immunosuppressive agents FK506-rapamycin ,with
    intrinsic peptidyl-prolyl cis-trans isomerase activity

    Enzyme Number (IUBMB): EC 5.2.1.81 2

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    SwitchGear 3'UTR luciferase reporter plasmidFKBP1A 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity TAS11322937
    GO:0004871signal transducer activity IMP12761501
    GO:0005024contributes to transforming growth factor beta-activated receptor activity TAS11322937
    GO:0005160transforming growth factor beta receptor binding ISS7518616
    GO:0005219contributes to ryanodine-sensitive calcium-release channel activity TAS11322937


    FKBP1A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Fkbp1atm1Zuk for FKBP1A
         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fkbp1a):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  muscle  nervous system 
     normal  respiratory system 

    FKBP1A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_TGF-beta receptor signaling
    Development_TGF-beta receptor signaling1.00
    Development TGF-beta receptor signaling0.96
    2Signal transduction Activin A signaling regulation
    Signal transduction Activin A signaling regulation1.00
    Signal transduction_Activin A signaling regulation0.96
    3Signal transduction Calcium signaling
    Signal transduction Calcium signaling1.00
    Signal transduction_Calcium signaling0.97
    4Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway1.00
    Integrated Pancreatic Cancer Pathway0.99
    5TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
    TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for FKBP1A
        Signal transduction Calcium signaling
    Signal transduction Activin A signaling regulation
    Development TGF-beta receptor signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for FKBP1A
        mTOR Pathway

    3 GeneGo (Thomson Reuters) Pathways for FKBP1A
        Signal transduction Activin A signaling regulation
    Development TGF-beta receptor signaling
    Signal transduction Calcium signaling

    5/13 BioSystems Pathways for FKBP1A (see all 13
        TGF Beta Signaling Pathway
    TOR signaling
    Calcium Regulation in the Cardiac Cell
    TGF-beta Receptor Signaling Pathway
    Integrated Pancreatic Cancer Pathway

    4        Reactome Pathways for FKBP1A
        Signaling by TGF-beta Receptor Complex
    TGF-beta receptor signaling activates SMADs
    Signal Transduction
    TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)

    1 PharmGKB Pathway for FKBP1A
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics


    FKBP1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FKBP1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/139 Interacting proteins for FKBP1A (P629422, 3 ENSP000003711384) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000413protein peptidyl-prolyl isomerization TAS11322937
    GO:0003007heart morphogenesis ISS--
    GO:0006457protein folding NAS1930186
    GO:0006458'de novo' protein folding TAS11322937
    GO:0007165signal transduction ----


    FKBP1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FKBP1A for compounds           About GeneDecksing

    EMD Millipore small molecules for FKBP1A:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for FKBP1A

    Compounds for FKBP1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AscomycinCalcineurin phosphatase inhibitor; analog of FK 506 (Cat. No. 3631)[104987-12-4]

    1 HMDB Compound for FKBP1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/15 DrugBank Compounds for FKBP1A (see all 15)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Hydroxy-2-Butanone-- --target--17139284 17016423 10592235
    FKB-001-- --target--17139284 17016423 10592235
    L-709,587-- --target--17139284 17016423 10592235
    Methyl Methylsulfinylmethyl Sulfide-- 33577-16-1target--17139284 17016423 10592235
    {3-[3-(3,4-Dimethoxy-Phenyl)-1-(1-{1-[2-(3,4,5-Trimethoxy-Phenyl)-Butyryl]-Piperidin-2yl}-Vinyloxy)-Propyl]-Phenoxy}-Acetic Acid-- --target--17139284 17016423 10592235
    Sirolimus(-)-Rapamycin (see all 2)53123-88-9targetother11752352 12742462
    TacrolimusFK-506 (see all 5)104987-11-3targetinhibitor16289353 17524933
    (21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANE-- --target--10592235
    (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Leucine-- --target--10592235
    (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Phenylalanine Ethyl Ester-- --target--10592235

    10/30 Novoseek chemical compound relationships for FKBP1A gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tacrolimus 92.1 344 8545894 (5), 1379588 (5), 16246307 (4), 8563622 (4) (see all 99)
    rapamycin 89.3 209 10998178 (4), 10330150 (4), 11335722 (4), 8325502 (3) (see all 96)
    ryanodine 81.5 61 8599646 (4), 9743407 (4), 9461216 (4), 9502200 (3) (see all 36)
    ascomycin 75.4 3 10543889 (2), 9383417 (1)
    everolimus 61.4 1 16278292 (1)
    cyclosporin a 57.6 7 8794888 (1), 11982754 (1), 14523907 (1), 10412950 (1) (see all 6)
    caffeine 44.1 7 17950843 (2), 7527548 (1), 7514503 (1)
    calcium 44 70 7527548 (5), 16278292 (5), 8521476 (3), 7533300 (3) (see all 38)
    inositol 1,4,5 trisphosphate 43.7 6 9346894 (2), 9660798 (1), 9742506 (1), 11557049 (1) (see all 5)
    dihydropyridine 35.6 5 15269663 (1), 15998242 (1), 11751303 (1), 16621918 (1)

    Search CenterWatch for drugs/clinical trials and news about FKBP1A / FKB1A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for FKBP1A gene (3 alternative transcripts): 
    NM_000801.4  NM_001199786.1  NM_054014.3  

    Unigene Clusters for FKBP1A:

    FK506 binding protein 1A, 12kDa
    Hs.471933  [show with all ESTs], Hs.700839  [show with all ESTs]
    Unigene Representative Sequences: NM_000801, BM542106
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474657 ENST00000400137(uc010gac.2 uc002wey.3 uc002wez.3 uc010gaf.2 uc010gae.2)
    ENST00000381724 ENST00000460490 ENST00000474726 ENST00000381719(uc002wfb.3 uc002wfa.3)
    ENST00000381715 ENST00000439640

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    hsa-miR-26a-2* hsa-miR-15a hsa-miR-25 hsa-miR-424 hsa-miR-3613-3p hsa-miR-34b hsa-miR-497* hsa-miR-92b
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FKBP1A
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    Additional cDNA sequence: BC119733.1 

    24/39 DOTS entries (see all 39):

    DT.100870942  DT.100847570  DT.100854207  DT.87077786  DT.120799367  DT.100732414  DT.120799438  DT.100655249 
    DT.92459538  DT.100869037  DT.100655253  DT.95094918  DT.100732306  DT.95077610  DT.92459542  DT.97848563 
    DT.92459549  DT.95266874  DT.120799348  DT.120799430  DT.120799444  DT.92459530  DT.95346255  DT.100655250 

    24/1172 AceView cDNA sequences (see all 1172):

    CR600891 BU622760 CD721763 BM853527 AW272548 CR596571 AI796661 BG749120 
    AU117652 F08881 BM709447 BQ879875 AA354519 BX359084 CR591667 BG749775 
    F11218 AA376016 BX486223 BU541377 BM790715 AI092360 BM761572 AA165106 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FKBP1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAAATCCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FKBP1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FKBP1A

    SOURCE GeneReport for Unigene clusters: Hs.471933 Hs.700839
        SABiosciences Expression via Pathway-Focused PCR Arrays including FKBP1A: 
              mTOR Signaling in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for FKBP1A gene from 9/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkbp1a1 , 5 FK506 binding protein 1a1, 5 93.21(n)1
    97.22(a)1
      2 (74.83 cM)5
    142251  NM_008019.21  NP_032045.11 
     1515424835 
    chicken
    (Gallus gallus)
    Aves FKBP1A1 FK506 binding protein 1A, 12kDa 83.64(n)
    91.67(a)
      374233  NM_204330.1  NP_989661.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    89(a)
    1 → many
    GL343346.1(874569-875912)
    zebrafish
    (Danio rerio)
    Actinopterygii fkbp1ab1 FK506 binding protein 1Ab 72.22(n)
    82.41(a)
      449552  NM_001005594.1  NP_001005594.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta FK506-bp23 protein folding FK506 binding 75(a)   56C8   --
    worm
    (Caenorhabditis elegans)
    Secernentea fkb-23 FKBP-type peptidyl-prolyl cis-trans
    isomerases
    60(a)   I(12926778-12927157)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G555206
    FKBP-like peptidyl-prolyl cis-trans isomerase fami...
    22(a)
    possible ortholog
    3(20593661-20595345)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    peptidyl-prolyl cis-trans isomerase, FKBP-type, pu...
    peptidyl-prolyl cis-trans isomerase, FKBP-type, pu...
    22(a)
    21(a)
    possible ortholog
    possible ortholog
    1(36252504-36255934)
    5(22429840-22432453)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria fklB6
    fkpA6
    FKBP-type peptidyl-prolyl cis-trans isomerase (rot...
    FKBP-type peptidyl-prolyl cis-trans isomerase (rot...
    22(a)
    17(a)
    possible ortholog
    possible ortholog
    Chromosome(4426958-4427578)
    Chromosome(3474629-3475441)


    ENSEMBL Gene Tree for FKBP1A (if available)
    TreeFam Gene Tree for FKBP1A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FKBP1A gene
    FKBP52  FKBP42  FKBP1C2  FKBP82  FKBP62  FKBP1B2  FKBP32  
    16 SIMAP similar genes for FKBP1A using alignment to 4 protein entries:     FKB1A_HUMAN (see all proteins):
    FKBP12-Exip3    FKBP12-Exin    FKBP1C    FKBP1B    FKBP12-Exip2    FKBP4
    FKBP6    FKBP5    FKBP2    FKBP7    FKBP14    FKBP9
    FKBP10    DKFZp666D193    FKBP11    FKBP8

    FKBP1A for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for FKBP1A
    PGOHUM00000248586 PGOHUM00000246846 PGOHUM00000250590 PGOHUM00000250264


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/462 NCBI SNPs in FKBP1A are shown (see all 462    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1858809771,2
    --1349127(+) AACCAC/TGCAGC 6 -- ds5001 int10--------
    rs1505467691,2
    --1349205(+) TCTTCA/GTATCT 6 -- ds5001 int10--------
    rs177185741,2
    C,F,H,--1349326(+) NNNNTC/GTACCC 6 -- ds5001 int118Minor allele frequency- G:0.08NA NS EA WA 1226
    rs1379565001,2
    C,--1349362(+) GTAAC-/AGGGGAG 6 -- ds5001 int10--------
    rs1398674011,2
    --1349418(+) TTTGAG/TGCAAA 6 -- int1 ds50010--------
    rs1149440551,2
    C,F,--1349433(+) CCCCAC/TATTCC 6 -- ds5001 int11Minor allele frequency- T:0.02WA 118
    rs1491744651,2
    C,--1349439(+) TTCCC-/CCTCCTCC 6 -- int1 ds50010--------
    rs1899690921,2
    --1349459(+) CAACCC/TGTTAA 6 -- int1 ds50010--------
    rs1826057171,2
    --1349512(+) AGACAC/TAATCT 6 -- ds5001 int10--------
    rs60417431,2
    H--1349523(+) TGAAAC/TTGCAT 6 -- ds5001 int14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for FKBP1A (1349622 - 1373816 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FKBP1A: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FKBP1A for disorders           About GeneDecksing

    OMIM gene information: 186945    OMIM disorders: --

    20/27 diseases for FKBP1A (see all 27):    About MalaCards
    noncompaction of left ventricular myocardium    fibrodysplasia ossificans progressiva    left ventricular noncompaction    graft versus host disease
    familial adenomatous polyposis    ataxia telangiectasia    corneal neovascularization    tuberous sclerosis
    neurodegenerative disease    bipolar disorder    diabetes mellitus    neurodegeneration
    polyneuropathy    ataxia    breast cancer    rhabdomyosarcoma
    polyposis    ovarian cancer    psoriasis    prostate cancer

    4 diseases from the University of Copenhagen DISEASES database for FKBP1A:
    Fibrodysplasia ossificans progressiva     Polyneuropathy     Malignant hyperthermia     Familial adenomatous polyposis

    10/12 Novoseek disease relationships for FKBP1A gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 30.7 2 10325225 (1), 9465032 (1)
    neurodegenerative diseases 7.98 2 12871169 (1), 17011518 (1)
    carcinoma 3.78 1 12599018 (1)
    breast cancer 2.95 1 10412950 (1)
    restenosis 2.94 1 17962721 (1)
    tumors 2.48 2 9154824 (1), 14612567 (1)
    autoimmune diseases 0 3 10433096 (2)
    neurological disorders 0 1 15732051 (1)
    shock 0 3 11245643 (1), 18177671 (1)
    neurodegeneration 0 2 12526984 (1), 16036432 (1)

    Human Genome Epidemiology (HuGE) Navigator: FKBP1A (5 documents)

    Export disorders for FKBP1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FKBP1A gene, integrated from 9 sources (see all 339):
    (articles sorted by number of sources associating them with FKBP1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor. (PubMed id 16720724)1, 2, 9 Yamaguchi T....Sugino H. (2006)
    2. Exon organization of the human FKBP-12 gene: correlation with structural and functional protein domains. (PubMed id 1716149)1, 2, 9 Dilella A.G. and Craig R.J. (1991)
    3. Three distinct messenger RNAs can encode the human immunosuppressant- binding protein FKBP12. (PubMed id 7529739)1, 2, 9 Peattie D.A.... Lippke J.A. (1994)
    4. Solution structure of FK506 bound to FKBP-12. (PubMed id 1375171)1, 2, 9 Lepre C.A.... Moore J.M. (1992)
    5. Chromosomal assignment of the human immunophilin FKBP-12 gene. (PubMed id 1930186)1, 3, 9 DiLella A.G. (1991)
    6. Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels. (PubMed id 22100703)1, 2 Wen H.... Park S. (2012)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    10. X-ray structures of small ligand-FKBP complexes provide an estimate for hydrophobic interaction energies. (PubMed id 10656803)1, 2 Burkhard P.... Walkinshaw M.D. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2280 HGNC: 3711 AceView: FKBP1AandSDCBP2 Ensembl:ENSG00000088832 euGenes: HUgn2280
    ECgene: FKBP1A H-InvDB: FKBP1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FKBP1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FKBP1A gene:
    Search GeneIP for patents involving FKBP1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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