Human Gene FKBP10 (ENST00000321562.9_4) from GENCODE V47lift37
  Description: FKBP prolyl isomerase 10 (from RefSeq NM_021939.4)
Gencode Transcript: ENST00000321562.9_4
Gencode Gene: ENSG00000141756.20_14
Transcript (Including UTRs)
   Position: hg19 chr17:39,969,256-39,979,465 Size: 10,210 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr17:39,969,287-39,978,660 Size: 9,374 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,969,256-39,979,465)mRNA (may differ from genome)Protein (582 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FKB10_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP10; Short=PPIase FKBP10; EC=5.2.1.8; AltName: Full=65 kDa FK506-binding protein; Short=65 kDa FKBP; Short=FKBP-65; AltName: Full=FK506-binding protein 10; Short=FKBP-10; AltName: Full=Immunophilin FKBP65; AltName: Full=Rotamase; Flags: Precursor;
FUNCTION: PPIases accelerate the folding of proteins during protein synthesis.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
ENZYME REGULATION: Inhibited by both FK506 and rapamycin, but not by cyclosporin A (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen (By similarity).
PTM: Glycosylated and phosphorylated (By similarity).
DISEASE: Defects in FKBP10 are the cause of osteogenesis imperfecta type 6 (OI6) [MIM:610968]. OI6 is a moderate to severe, autosomal recessive form of osteogenesis imperfecta characterized by increased serum alkaline phosphatase levels and bone histology exhibiting a fish scale-like lamellar pattern. Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass.
SIMILARITY: Contains 2 EF-hand domains.
SIMILARITY: Contains 4 PPIase FKBP-type domains.
SEQUENCE CAUTION: Sequence=BAB15220.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97695.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Peptidyl-prolyl cis-trans isomerase FKBP10; URL="http://oi.gene.le.ac.uk/home.php?select_db=FKBP10";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FKBP10
Diseases sorted by gene-association score: bruck syndrome 1* (1329), osteogenesis imperfecta, type xi* (917), moved to 259450* (350), osteogenesis imperfecta, type xii* (283), bruck syndrome* (281), osteogenesis imperfecta, type iii* (212), osteogenesis imperfecta, type iv* (211), fkbp10-related osteogenesis imperfecta* (200), osteogenesis imperfecta (10), dentinogenesis imperfecta (9), bone development disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 138.16 RPKM in Cells - Cultured fibroblasts
Total median expression: 1101.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.5031-0.242 Picture PostScript Text
3' UTR -305.00805-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF13202 - EF hand

SCOP Domains:
47473 - EF-hand
141300 - GatD N-terminal domain-like
54534 - FKBP-like

ModBase Predicted Comparative 3D Structure on Q96AY3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005509 calcium ion binding
GO:0005528 FK506 binding
GO:0016853 isomerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0000412 histone peptidyl-prolyl isomerization
GO:0018208 peptidyl-proline modification
GO:0061077 chaperone-mediated protein folding

Cellular Component:
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AK092708 - Homo sapiens cDNA FLJ35389 fis, clone SKNMC2000635, moderately similar to 65 KDA FK506-BINDING PROTEIN PRECURSOR (EC 5.2.1.8).
AX747682 - Sequence 1207 from Patent EP1308459.
LF209336 - JP 2014500723-A/16839: Polycomb-Associated Non-Coding RNAs.
AB045981 - Homo sapiens hFKBP65 mRNA for FK506 binding protein, complete cds, cDNA:PSEC0056 from clone:NT2RP2000565.
BX537452 - Homo sapiens mRNA; cDNA DKFZp686L1776 (from clone DKFZp686L1776); complete cds.
AL832985 - Homo sapiens mRNA; cDNA DKFZp666D193 (from clone DKFZp666D193).
BC016467 - Homo sapiens FK506 binding protein 10, 65 kDa, mRNA (cDNA clone MGC:16809 IMAGE:4154344), complete cds.
AK092042 - Homo sapiens cDNA FLJ34723 fis, clone MESAN2005811, highly similar to 65 KDA FK506-BINDING PROTEIN PRECURSOR (EC 5.2.1.8).
AX747329 - Sequence 854 from Patent EP1308459.
AK296107 - Homo sapiens cDNA FLJ53423 complete cds, highly similar to FK506-binding protein 10 precursor (EC 5.2.1.8).
AK172811 - Homo sapiens cDNA FLJ23972 fis, clone HEP18230, highly similar to 65 kDa FK506-binding protein precursor (EC 5.2.1.8).
EU832041 - Synthetic construct Homo sapiens clone HAIB:100067070; DKFZo004D1124 FK506 binding protein 10, 65 kDa protein (FKBP10) gene, encodes complete protein.
EU831946 - Synthetic construct Homo sapiens clone HAIB:100066975; DKFZo008D1123 FK506 binding protein 10, 65 kDa protein (FKBP10) gene, encodes complete protein.
DQ894994 - Synthetic construct Homo sapiens clone IMAGE:100009454; FLH180159.01L; RZPDo839G09131D FK506 binding protein 10, 65 kDa (FKBP10) gene, encodes complete protein.
AB463638 - Synthetic construct DNA, clone: pF1KB6116, Homo sapiens FKBP10 gene for FK506 binding protein 10, without stop codon, in Flexi system.
AF337909 - Homo sapiens 65 kDa FK506-binding protein (FKBP65) mRNA, complete cds.
AK025694 - Homo sapiens cDNA: FLJ22041 fis, clone HEP09061.
AK025874 - Homo sapiens cDNA: FLJ22221 fis, clone HRC01651.
AL133116 - Homo sapiens mRNA; cDNA DKFZp586I0821 (from clone DKFZp586I0821).
MA444913 - JP 2018138019-A/16839: Polycomb-Associated Non-Coding RNAs.
LF327769 - JP 2014500723-A/135272: Polycomb-Associated Non-Coding RNAs.
LF327771 - JP 2014500723-A/135274: Polycomb-Associated Non-Coding RNAs.
LF327772 - JP 2014500723-A/135275: Polycomb-Associated Non-Coding RNAs.
MA563346 - JP 2018138019-A/135272: Polycomb-Associated Non-Coding RNAs.
MA563348 - JP 2018138019-A/135274: Polycomb-Associated Non-Coding RNAs.
MA563349 - JP 2018138019-A/135275: Polycomb-Associated Non-Coding RNAs.
LF327775 - JP 2014500723-A/135278: Polycomb-Associated Non-Coding RNAs.
LF327776 - JP 2014500723-A/135279: Polycomb-Associated Non-Coding RNAs.
LF327778 - JP 2014500723-A/135281: Polycomb-Associated Non-Coding RNAs.
LF327779 - JP 2014500723-A/135282: Polycomb-Associated Non-Coding RNAs.
LF327780 - JP 2014500723-A/135283: Polycomb-Associated Non-Coding RNAs.
JD152780 - Sequence 133804 from Patent EP1572962.
JD544315 - Sequence 525339 from Patent EP1572962.
JD275965 - Sequence 256989 from Patent EP1572962.
JD485300 - Sequence 466324 from Patent EP1572962.
JD215366 - Sequence 196390 from Patent EP1572962.
AK000690 - Homo sapiens cDNA FLJ20683 fis, clone KAIA3541.
AK074413 - Homo sapiens cDNA FLJ23833 fis, clone KAIA03541.
JD259674 - Sequence 240698 from Patent EP1572962.
LF327782 - JP 2014500723-A/135285: Polycomb-Associated Non-Coding RNAs.
JD121552 - Sequence 102576 from Patent EP1572962.
JD083780 - Sequence 64804 from Patent EP1572962.
JD532782 - Sequence 513806 from Patent EP1572962.
LF327784 - JP 2014500723-A/135287: Polycomb-Associated Non-Coding RNAs.
JD167093 - Sequence 148117 from Patent EP1572962.
JD506538 - Sequence 487562 from Patent EP1572962.
JD470545 - Sequence 451569 from Patent EP1572962.
JD392236 - Sequence 373260 from Patent EP1572962.
JD402444 - Sequence 383468 from Patent EP1572962.
JD077054 - Sequence 58078 from Patent EP1572962.
JD523259 - Sequence 504283 from Patent EP1572962.
JD264409 - Sequence 245433 from Patent EP1572962.
JD218352 - Sequence 199376 from Patent EP1572962.
JD330285 - Sequence 311309 from Patent EP1572962.
LF327785 - JP 2014500723-A/135288: Polycomb-Associated Non-Coding RNAs.
JD169077 - Sequence 150101 from Patent EP1572962.
JD041023 - Sequence 22047 from Patent EP1572962.
JD216180 - Sequence 197204 from Patent EP1572962.
JD218219 - Sequence 199243 from Patent EP1572962.
JD479519 - Sequence 460543 from Patent EP1572962.
LF327786 - JP 2014500723-A/135289: Polycomb-Associated Non-Coding RNAs.
MA563352 - JP 2018138019-A/135278: Polycomb-Associated Non-Coding RNAs.
MA563353 - JP 2018138019-A/135279: Polycomb-Associated Non-Coding RNAs.
MA563355 - JP 2018138019-A/135281: Polycomb-Associated Non-Coding RNAs.
MA563356 - JP 2018138019-A/135282: Polycomb-Associated Non-Coding RNAs.
MA563357 - JP 2018138019-A/135283: Polycomb-Associated Non-Coding RNAs.
MA563359 - JP 2018138019-A/135285: Polycomb-Associated Non-Coding RNAs.
MA563361 - JP 2018138019-A/135287: Polycomb-Associated Non-Coding RNAs.
MA563362 - JP 2018138019-A/135288: Polycomb-Associated Non-Coding RNAs.
MA563363 - JP 2018138019-A/135289: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000321562.1, ENST00000321562.2, ENST00000321562.3, ENST00000321562.4, ENST00000321562.5, ENST00000321562.6, ENST00000321562.7, ENST00000321562.8, FKB10_HUMAN, FKBP65, NM_021939, PSEC0056, Q7Z3R4, Q96AY3, Q9H3N3, Q9H6J3, Q9H6N5, Q9UF89, uc317rcf.1, uc317rcf.2
UCSC ID: ENST00000321562.9_4
RefSeq Accession: NM_021939.4
Protein: Q96AY3 (aka FKB10_HUMAN or FK10_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.