Human Gene FKBP10 (uc002hxv.2) Description and Page Index
  Description: Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.
RefSeq Summary (NM_021939): The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL832985.1, BC016467.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:39,968,962-39,979,469 Size: 10,508 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 CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,968,962-39,979,469)mRNA (may differ from genome)Protein (582 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  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";

-  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           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 138.16 RPKM in Cells - Transformed 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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -153.90325-0.474 Picture PostScript Text
3' UTR -318.60809-0.394 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
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  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.
JD385434 - Sequence 366458 from Patent EP1572962.
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: FKB10_HUMAN, FKBP65, NM_021939, NP_068758, PSEC0056, Q7Z3R4, Q96AY3, Q9H3N3, Q9H6N5, Q9UF89
UCSC ID: uc002hxv.2
RefSeq Accession: NM_021939
Protein: Q96AY3 (aka FKB10_HUMAN or FK10_HUMAN)
CCDS: CCDS11409.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021939.3
exon count: 10CDS single in 3' UTR: no RNA size: 2888
ORF size: 1749CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3671.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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