Human Gene FKBP6 (ENST00000252037.5_11) from GENCODE V47lift37
  Description: FKBP prolyl isomerase family member 6 (inactive), transcript variant 1 (from RefSeq NM_003602.5)
Gencode Transcript: ENST00000252037.5_11
Gencode Gene: ENSG00000077800.13_16
Transcript (Including UTRs)
   Position: hg19 chr7:72,742,164-72,772,634 Size: 30,471 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr7:72,742,432-72,756,897 Size: 14,466 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 (chr7:72,742,164-72,772,634)mRNA (may differ from genome)Protein (327 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FKBP6_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP6; Short=PPIase FKBP6; EC=5.2.1.8; AltName: Full=36 kDa FK506-binding protein; Short=36 kDa FKBP; Short=FKBP-36; AltName: Full=FK506-binding protein 6; Short=FKBP-6; AltName: Full=Immunophilin FKBP36; AltName: Full=Rotamase;
FUNCTION: PPIases accelerate the folding of proteins.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
TISSUE SPECIFICITY: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
DISEASE: Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
SIMILARITY: Contains 1 PPIase FKBP-type domain.
SIMILARITY: Contains 3 TPR repeats.

-  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: FKBP6
Diseases sorted by gene-association score: williams-beuren syndrome (16), azoospermia (14), chromosome 17q12 deletion syndrome (6), diabetes mellitus, transient neonatal, 1 (4)

-  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: 37.56 RPKM in Testis
Total median expression: 42.90 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 -103.40268-0.386 Picture PostScript Text
3' UTR -148.10447-0.331 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
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical

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

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3B7X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75344
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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:0042802 identical protein binding
GO:0051879 Hsp90 protein binding

Biological Process:
GO:0000413 protein peptidyl-prolyl isomerization
GO:0006457 protein folding
GO:0007283 spermatogenesis
GO:0018208 peptidyl-proline modification
GO:0030154 cell differentiation
GO:0031047 gene silencing by RNA
GO:0034587 piRNA metabolic process
GO:0043046 DNA methylation involved in gamete generation
GO:0045070 positive regulation of viral genome replication
GO:0051321 meiotic cell cycle
GO:0061077 chaperone-mediated protein folding

Cellular Component:
GO:0000795 synaptonemal complex
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF447060 - Homo sapiens FK506 binding protein 6 isoform mRNA, complete cds.
AK302121 - Homo sapiens cDNA FLJ58641 complete cds, highly similar to FK506-binding protein 6 (EC 5.2.1.8).
AK310255 - Homo sapiens cDNA, FLJ17297.
BC036817 - Homo sapiens FK506 binding protein 6, 36kDa, mRNA (cDNA clone MGC:45980 IMAGE:5744865), complete cds.
AF038847 - Homo sapiens 36 kDa FK506 binding protein (FKBP36) mRNA, complete cds.
EU176233 - Synthetic construct Homo sapiens clone IMAGE:100006583; FLH263906.01X; RZPDo839B03246D FK506 binding protein 6, 36kDa (FKBP6) gene, encodes complete protein.
EU176537 - Synthetic construct Homo sapiens clone IMAGE:100011644; FLH264004.01L; RZPDo839D10245D FK506 binding protein 6, 36kDa (FKBP6) gene, encodes complete protein.
CU691432 - Synthetic construct Homo sapiens gateway clone IMAGE:100016708 5' read FKBP6 mRNA.
GQ129339 - Synthetic construct Homo sapiens clone HAIB:100068682; DKFZo004D0836 FK506 binding protein 6, 36kDa protein (FKBP6) gene, partial cds.
KJ892540 - Synthetic construct Homo sapiens clone ccsbBroadEn_01934 FKBP6 gene, encodes complete protein.
KR710904 - Synthetic construct Homo sapiens clone CCSBHm_00018108 FKBP6 (FKBP6) mRNA, encodes complete protein.
KR712250 - Synthetic construct Homo sapiens clone CCSBHm_00900211 FKBP6 (FKBP6) mRNA, encodes complete protein.
GQ129340 - Synthetic construct Homo sapiens clone HAIB:100068585; DKFZo008D0835 FK506 binding protein 6, 36kDa protein (FKBP6) gene, complete cds.
DQ594612 - Homo sapiens piRNA piR-60724, complete sequence.
JD035096 - Sequence 16120 from Patent EP1572962.
JD064208 - Sequence 45232 from Patent EP1572962.
JD525249 - Sequence 506273 from Patent EP1572962.
JD387691 - Sequence 368715 from Patent EP1572962.
JD459316 - Sequence 440340 from Patent EP1572962.
JD485131 - Sequence 466155 from Patent EP1572962.
JD200499 - Sequence 181523 from Patent EP1572962.
JD092568 - Sequence 73592 from Patent EP1572962.

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

Protein O75344 (Reactome details) participates in the following event(s):

R-HSA-1221632 Meiotic synapsis
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B4DXT7, ENST00000252037.1, ENST00000252037.2, ENST00000252037.3, ENST00000252037.4, FKBP36, FKBP6_HUMAN, G3V0I2, NM_003602, O75344, Q7Z4T4, Q9UDS0, uc317ffv.1, uc317ffv.2
UCSC ID: ENST00000252037.5_11
RefSeq Accession: NM_003602.5
Protein: O75344 (aka FKBP6_HUMAN or FKB6_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.