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

FKBPL Gene

protein-coding   GIFtS: 52
GCID: GC06M032099

FK506 Binding Protein Like

(Previous name: FK506-binding protein like)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
FK506 Binding Protein Like1 2     WAF-1/CIP1 Stabilizing Protein 392 3
FK506-Binding Protein Like1 2     WISP392
DIR12 3     FK506-Binding Protein-Like2
NG72 3     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 Gene:
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)

GeneCards Summary for FKBPL Gene: 
FKBPL (FK506 binding protein like) is a protein-coding gene. Diseases associated with FKBPL include male infertility, and infertility. GO annotations related to this gene include FK506 binding and peptidyl-prolyl cis-trans isomerase activity.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  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-,NT_113891.2 3,567,144-3,568,727      Chr6-,NT_167247 3,476,312-3,477,895      Chr6-,NT_167245 3,375,656-3,377,239     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FKBPL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UIM3

  • FKBPL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FKBPL Protein Expression
    REFSEQ proteins: NP_071393.2  
    ENSEMBL proteins: 
     ENSP00000364298  

    Human Recombinant Protein Products for FKBPL: 
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    Cloud-Clone Corp. Proteins for FKBPL 

    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5 InterPro protein domains:
     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


    FKBPL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

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

         Gene Ontology (GO): 3 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:0005515protein binding ----
    GO:0005528FK506 binding IBA--
         
    FKBPL for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FKBPL 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBPL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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)
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKBPL
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    Primer
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    Additional mRNA 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):

    BU783101 BC004168 NM_022110 AI342157 BM668065 AA476572 AI655575 BE889603 
    BX385692 CD364908 AA447685 CA489826 AA617889 BX107524 BE045958 AI356728 
    CA420516 BU625175 AW082192 AW249277 CD050235 AI656025 AI675450 BM697115 

    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 <intensity>2/3
    CGAP TAG: CCAATCTGGC
    FKBPL 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

        SABiosciences Custom PCR Arrays for FKBPL
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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 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkbpl1 , 5 FK506 binding protein-like1, 5 81.21(n)1
    73.99(a)1
      17 (18.22 cM)5
    562991  NM_019873.21  NP_063926.11 
     346447645 
    lizard
    (Anolis carolinensis)
    Reptilia FKBPL6
    Uncharacterized protein
    52(a)
    1 ↔ 1
    2(194768922-194769614)
    zebrafish
    (Danio rerio)
    Actinopterygii FKBPL6
    FK506 binding protein like
    23(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, 4UniProtKB, 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 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
    ----------
    VAR_0615464
    ----see VAR_0615462 A T mis40--------
    rs119623531,2
    C,F,H--31854155(+) GACCTG/ACTCCA 1 -- us2k18Minor allele frequency- A:0.02NS EA WA 1206
    rs803472881,2
    C--32098022(+) GAGGCG/AGGGGT 1 -- ut512Minor allele frequency- A:0.08WA 120
    rs1172429371,2
    C,F--32098202(+) ACTGAA/TCTAGG 1 -- us2k11Minor allele frequency- T:0.15EA 120
    rs1447812611,2
    C--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--------
    rs1430387711,2
    C--32098975(+) ACTGCA/TATCCA 1 -- us2k10--------
    rs1461932171,2
    --32098978(+) GCAATA/CCAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FKBPL (32096484 - 32098068 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FKBPL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv884702CNV Loss21882294
    nsv830629CNV Loss17160897
    nsv884701CNV Gain21882294
    dgv1929e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): FKBPL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FKBPL
    DNA2.0 Custom Variant and Variant Library Synthesis for FKBPL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for FKBPL:    About MalaCards
    male infertility    infertility    systemic lupus erythematosus    lupus erythematosus


    FKBPL for disorders           About GeneDecksing

    Genetic Association Database (GAD): FKBPL
    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 17):
    (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. Alterations in the steroid hormone receptor co-chaper one FKBPL are associated with male infertility: a case-control study. (PubMed id 20210997)1, 4 Sunnotel O....Walsh C.P. (2010)
    3. 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, 4 Barcellos L.F....Criswell L.A. (2009)
    4. Regulation of p21(WAF1/CIP1) stability by WISp39, a Hsp90 binding TPR protein. (PubMed id 15664193)1, 2 Jascur T.... Fotedar A. (2005)
    5. 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)
    6. 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)
    7. FKBPL regulates estrogen receptor signaling and deter mines response to endocrine therapy. (PubMed id 20103631)1, 9 McKeen H.D....Robson T. (2010)
    8. The anti-migratory effects of FKBPL and its peptide de rivative, AD-01: regulation of CD44 and the cytoskeletal pathway. (PubMed id 23457460)1 Yakkundi A....Robson T. (2013)
    9. 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)
    10. 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)

    (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:
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    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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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     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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