Human Gene FKBP8 (ENST00000608443.6_9) from GENCODE V47lift37
  Description: FKBP prolyl isomerase 8, transcript variant 1 (from RefSeq NM_012181.5)
Gencode Transcript: ENST00000608443.6_9
Gencode Gene: ENSG00000105701.16_17
Transcript (Including UTRs)
   Position: hg19 chr19:18,642,573-18,654,383 Size: 11,811 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:18,642,979-18,652,780 Size: 9,802 Coding Exon Count: 8 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,642,573-18,654,383)mRNA (may differ from genome)Protein (413 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FKBP8_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP8; Short=PPIase FKBP8; EC=5.2.1.8; AltName: Full=38 kDa FK506-binding protein; Short=38 kDa FKBP; Short=FKBP-38; Short=hFKBP38; AltName: Full=FK506-binding protein 8; Short=FKBP-8; AltName: Full=FKBPR38; AltName: Full=Rotamase;
FUNCTION: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
COFACTOR: Calcium.
SUBUNIT: Homomultimers or heteromultimers (Potential). Forms heterodimer with calmodulin. When activated by calmodulin and calcium, interacts with the BH4 domain of BCL2 and weakly with BCLX isoform Bcl-X(L). Does not bind and inhibit calcineurin. Interacts with HCV NS5A. Interacts with ZFYVE27; may negatively regulate ZFYVE27 phosphorylation.
INTERACTION: P00533:EGFR; NbExp=3; IntAct=EBI-724839, EBI-297353; Q5T4F4:ZFYVE27; NbExp=4; IntAct=EBI-724839, EBI-3892947;
SUBCELLULAR LOCATION: Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side (By similarity).
TISSUE SPECIFICITY: Widely expressed. Highest levels seen in the brain.
MISCELLANEOUS: Binds the immunosuppressant FK506 only in its calmodulin/calcium activated form.
SIMILARITY: Contains 1 PPIase FKBP-type domain.
SIMILARITY: Contains 3 TPR repeats.
CAUTION: It is uncertain whether Met-1 or Met-58 is the initiator.
SEQUENCE CAUTION: Sequence=AAB00102.1; Type=Miscellaneous discrepancy; Note=The first part of the cDNA maps to the same locus, but in opposite orientation; Sequence=AAH09966.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD98028.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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: FKBP8
Diseases sorted by gene-association score: hepatitis c virus (2)

-  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: 889.63 RPKM in Whole Blood
Total median expression: 7247.27 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 -62.30113-0.551 Picture PostScript Text
3' UTR -153.90406-0.379 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
IPR023114 - Elongated_TPR_rpt_dom
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF07719 - Tetratricopeptide repeat
PF13174 - Tetratricopeptide repeat
PF13176 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat
PF13428 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat

SCOP Domains:
48371 - ARM repeat
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
54534 - FKBP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2AWG - X-ray MuPIT 2D9F - NMR MuPIT 2F2D - NMR MuPIT 2JWX - NMR 3EY6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14318
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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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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005515 protein binding
GO:0005528 FK506 binding
GO:0016853 isomerase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000413 protein peptidyl-prolyl isomerization
GO:0001708 cell fate specification
GO:0001933 negative regulation of protein phosphorylation
GO:0006915 apoptotic process
GO:0007224 smoothened signaling pathway
GO:0009953 dorsal/ventral pattern formation
GO:0010468 regulation of gene expression
GO:0016032 viral process
GO:0021904 dorsal/ventral neural tube patterning
GO:0021915 neural tube development
GO:0030510 regulation of BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0035264 multicellular organism growth
GO:0035556 intracellular signal transduction
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0061077 chaperone-mediated protein folding

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031966 mitochondrial membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  GQ372970 - Homo sapiens FKBP8 isoform 1 (FKBP8) mRNA, complete cds, alternatively spliced.
BC009966 - Homo sapiens FK506 binding protein 8, 38kDa, mRNA (cDNA clone MGC:15196 IMAGE:4299915), complete cds.
AK026952 - Homo sapiens cDNA: FLJ23299 fis, clone HEP10749, highly similar to HUMFKBPA Human FK-506 binding protein homologue (FKBP38) mRNA.
AK222838 - Homo sapiens mRNA for FK506-binding protein 8 variant, clone: HEP10749.
L37033 - Human FK-506 binding protein homologue (FKBP38) mRNA, complete cds.
AY278607 - Homo sapiens FKBP8 mRNA, complete cds.
BX647720 - Homo sapiens mRNA; cDNA DKFZp686D2325 (from clone DKFZp686D2325).
BX538124 - Homo sapiens mRNA; cDNA DKFZp686M22160 (from clone DKFZp686M22160).
BX647405 - Homo sapiens mRNA; cDNA DKFZp686J17149 (from clone DKFZp686J17149).
JD394001 - Sequence 375025 from Patent EP1572962.
AK300571 - Homo sapiens cDNA FLJ56370 complete cds, highly similar to Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.
JD426319 - Sequence 407343 from Patent EP1572962.
JD131950 - Sequence 112974 from Patent EP1572962.
JD299991 - Sequence 281015 from Patent EP1572962.
JD452815 - Sequence 433839 from Patent EP1572962.
JD335237 - Sequence 316261 from Patent EP1572962.
JD416819 - Sequence 397843 from Patent EP1572962.
JD380350 - Sequence 361374 from Patent EP1572962.
KJ902365 - Synthetic construct Homo sapiens clone ccsbBroadEn_11759 FKBP8 gene, encodes complete protein.
AY225339 - Homo sapiens FK506-binding protein 38 mRNA, complete cds.
AK313363 - Homo sapiens cDNA, FLJ93891, Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.
DQ893085 - Synthetic construct clone IMAGE:100005715; FLH193558.01X; RZPDo839H0678D FK506 binding protein 8, 38kDa (FKBP8) gene, encodes complete protein.
DQ896353 - Synthetic construct Homo sapiens clone IMAGE:100010813; FLH193554.01L; RZPDo839H0668D FK506 binding protein 8, 38kDa (FKBP8) gene, encodes complete protein.
AB463044 - Synthetic construct DNA, clone: pF1KB8604, Homo sapiens FKBP8 gene for FK506 binding protein 8, without stop codon, in Flexi system.
AM392905 - Synthetic construct Homo sapiens clone IMAGE:100002288 for hypothetical protein (FKBP8 gene).
DQ579785 - Homo sapiens piRNA piR-47897, complete sequence.
JD043797 - Sequence 24821 from Patent EP1572962.
JD436378 - Sequence 417402 from Patent EP1572962.
JD339999 - Sequence 321023 from Patent EP1572962.
JD471385 - Sequence 452409 from Patent EP1572962.
JD340066 - Sequence 321090 from Patent EP1572962.
JD065611 - Sequence 46635 from Patent EP1572962.
JD532908 - Sequence 513932 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14318 (Reactome details) participates in the following event(s):

R-HSA-5696872 USP30 deubiquitinates Ub-MOM proteins
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: C8C9T5, ENST00000608443.1, ENST00000608443.2, ENST00000608443.3, ENST00000608443.4, ENST00000608443.5, FKBP38, FKBP8_HUMAN, NM_012181, Q14318, Q53GU3, Q7Z349, Q86YK6, uc327lfi.1, uc327lfi.2
UCSC ID: ENST00000608443.6_9
RefSeq Accession: NM_012181.5
Protein: Q14318 (aka FKBP8_HUMAN or FKB8_HUMAN)

-  Gene Model Information
  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.