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

FKBPL Gene

protein-coding   GIFtS: 48
GCID: GC06M032099

FK506 binding protein like

(Previous name: FK506-binding protein like )
 Explore 4 diseases affiliated with
FKBPL via our new
 Human Malady Compendium 
Biological research products
for FKBPL
    

(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 Like1 2     WAF-1/CIP1 Stabilizing Protein 392 3
DIR11 2 3     WISP392
NG71 2 3     FK506-Binding Protein-Like2
FK506-Binding Protein Like1 2     WISp393

External Ids:    HGNC: 139491   Entrez Gene: 639432   Ensembl: ENSG000002043157   UniProtKB: Q9UIM33   

Export aliases for FKBPL gene to outside databases

Previous GC identifers: GC06U990246 GC06M032117 GC06M031867 GC06M032167 GC06M032204 GC06M032098


(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 FKBPL:
The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in
immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is
thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the
control of the cell cycle. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FKBPL_HUMAN, Q9UIM3
Function: May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21

Gene Wiki entry for FKBPL


(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_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167247.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FKBPL gene promoter:
         SRF   RFX1   SRF (504 AA)   Olf-1   CUTL1   AREB6   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKBPL promoter sequence
   Search SABiosciences Chromatin IP Primers for FKBPL

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


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032099:  view genomic region     (about GC identifiers)

Start:
32,096,484 bp from pter      End:
32,098,068 bp from pter
Size:
1,585 bases      Orientation:
minus strand

3 alternative locations:
Chr6-,ALT_REF_LOCI_3 32,072,259-32,084,880      Chr6-,ALT_REF_LOCI_5 32,087,735-32,089,318      Chr6-,ALT_REF_LOCI_2 32,044,940-32,085,711     

(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: FKBPL_HUMAN, Q9UIM3 (See protein sequence)
Recommended Name: FK506-binding protein-like  
Size: 349 amino acids; 38176 Da
Subunit: Forms a ternary complex with CDKN1A/p21 and HSP90AB1/Hsp90
Sequence caution: Sequence=BAB15663.1; Type=Frameshift; Positions=201, 205, 319; Sequence=CAG33655.1; Type=Frameshift;
Positions=201;
Secondary accessions: A8K5V3 B0UYX8 Q9H5G3

Explore the universe of human proteins at neXtProt for FKBPL: NX_Q9UIM3

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UIM3

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

    REFSEQ proteins: NP_071393.2  
    ENSEMBL proteins: 
     ENSP00000364298  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0016020membrane IBA--


    FKBPL for ontologies           About GeneDecksing



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

    FKBPL for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR023566 PPIase_FKBP
     IPR001440 TPR-1
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q9UIM3

    ProtoNet protein and cluster: Q9UIM3

    UniProtKB/Swiss-Prot: FKBPL_HUMAN, Q9UIM3
    Similarity: Contains 3 TPR repeats


    (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: FKBPL_HUMAN, Q9UIM3
    Function: May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity IBA--
    GO:0005528FK506 binding IBA--


    FKBPL for ontologies           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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FKBPL

    4 Interacting proteins for FKBPL (Q9UIM32, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UNC119Q134322, 3MINT-65750 I2D: score=5 
    CDKN1AP389363I2D: score=1 
    HSP90AA1P079003I2D: score=1 
    TRAF1Q130773I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000413protein peptidyl-prolyl isomerization IBA--
    GO:0009314response to radiation NAS10521921
    GO:0018208peptidyl-proline modification IBA--


    FKBPL 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FKBPL
    Search CenterWatch for drugs/clinical trials and news about FKBPL 

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FKBPL gene: 
    NM_022110.3  

    Unigene Cluster for FKBPL:

    FK506 binding protein like
    Hs.520042  [show with all ESTs]
    Unigene Representative Sequence: AK291418
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375156(uc003nzr.3)

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    Clone
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    Additional cDNA sequence: 

    AK027119.1 AK291418.1 BC004168.2 BC011966.1 CR457374.1 

    2 DOTS entries:

    DT.412603  DT.100001020 

    24/77 AceView cDNA sequences (see all 77):

    BX385692 BM668065 AA617889 AI655575 BX107524 AA476572 BE045958 NM_022110 
    CA420516 BU783101 BC004168 AI342157 AI356728 CD364908 BU625175 AA447685 
    BE889603 CA489826 AI193537 CR457374 BM981405 AW137118 BM977518 BU628150 

    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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.520042

    UniProtKB/Swiss-Prot: FKBPL_HUMAN, Q9UIM3
    Tissue specificity: Ubiquitously expressed with higher levels in testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBPL

    (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 common ancestor of chordates.

    Orthologs for FKBPL gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia FKBPL6
    --
    47(a)
    1 ↔ 1
    2(194768922-194769614)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-381f5.36
    si:ch73-381f5.3
    24(a)
    1 ↔ 1
    23(19394606-19407993)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/26 NCBI SNPs in FKBPL are shown (see all 26    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803472881,2
    C,--32098022(+) GAGGCG/AGGGGT 1 -- ut512Minor allele frequency- A:0.08WA 120
    rs1172429371,2
    F,--32098202(+) ACTGAA/TCTAGG 1 -- us2k11Minor allele frequency- T:0.15EA 120
    rs1447812611,2
    --32098229(+) AGGCAA/GAATCG 1 -- us2k10--------
    rs1397844011,2
    --32098319(+) AAAAAC/TACAAA 1 -- us2k10--------
    rs802291811,2
    C--32098482(+) CGTCTC/GAAACA 1 -- us2k10--------
    rs49472541,2
    C--32098485(+) ctcaaA/Ccaaaa 1 -- us2k10--------
    rs64574821,2
    C,A--32098510(+) aaaaaA/GaaaAG 1 -- us2k10--------
    rs1430387711,2
    --32098975(+) ACTGCA/TATCCA 1 -- us2k10--------
    rs1461932171,2
    --32098978(+) GCAATA/CCAGCC 1 -- us2k10--------
    rs752141691,2
    C,F,--32099004(+) ATTCCC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.04NA 120

    HapMap Linkage Disequilibrium report for FKBPL (32096484 - 32098068 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FKBPL
         1 CNV: 3602
    Human Gene Mutation Database (HGMD): FKBPL

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

    FKBPL for disorders           About GeneDecksing

    4 diseases for FKBPL:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    male infertility    infertility

    Human Genome Epidemiology (HuGE) Navigator: FKBPL (3 documents)

    Export disorders for FKBPL 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 FKBPL gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with FKBPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human stress response-related gene with a potential role in induced radioresistance. (PubMed id 10521921)1, 2, 9 Robson T.... Hirst D.G. (1999)
    2. Regulation of p21(WAF1/CIP1) stability by WISp39, a Hsp90 binding TPR protein. (PubMed id 15664193)1, 2 Jascur T.... Fotedar A. (2005)
    3. Gene regulation by low-dose ionizing radiation in a normal human lung epithelial cell line. (PubMed id 9056895)1, 3 Robson T.A....Arrand J.E. (1997)
    4. A novel FK506-like binding protein interacts with the glucocorticoid receptor and regulates steroid receptor signaling. (PubMed id 18669603)1, 9 McKeen H.D....Robson T. (2008)
    5. FKBPL regulates estrogen receptor signaling and deter mines response to endocrine therapy. (PubMed id 20103631)1, 9 McKeen H.D....Robson T. (2010)
    6. Genome-wide association study of age-related macular d egeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of ch romosome 6p21.3. (PubMed id 22694956)1 Cipriani V....Yates J.R. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Alterations in the steroid hormone receptor co-chaper one FKBPL are associated with male infertility: a case-control study. (PubMed id 20210997)1 Sunnotel O....Walsh C.P. (2010)
    9. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 63943 HGNC: 13949 AceView: FKBPL Ensembl:ENSG00000204315 euGenes: HUgn63943
    ECgene: FKBPL H-InvDB: FKBPL

    (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 FKBPL 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 FKBPL gene:
    Search GeneIP for patents involving FKBPL

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     Browse Small Molecules at EMD Millipore
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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