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Fkbp6 FK506 binding protein 6 [ Mus musculus (house mouse) ]

Gene ID: 94244, updated on 5-Mar-2024

Summary

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Official Symbol
Fkbp6provided by MGI
Official Full Name
FK506 binding protein 6provided by MGI
Primary source
MGI:MGI:2137612
See related
Ensembl:ENSMUSG00000040013 AllianceGenome:MGI:2137612
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
36kDa; FKBP-6; FKBP-36; D5Ertd724e; 1700008G22Rik
Summary
This gene is a member of the FK506-binding protein (Fkbp) family. The encoded protein plays a role in male-specific fertility and homologous pairing of chromosomes during meiosis. The protein may also be involved in LINE1 transposon silencing and binding to Hsp90 as a co-chaperone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
Expression
Restricted expression toward testis adult (RPKM 22.2) See more
Orthologs
human all
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Genomic context

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Location:
5 G2; 5 75.11 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135320558..135380662, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135291704..135351809, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_14571 Neighboring gene STARR-positive B cell enhancer ABC_E2767 Neighboring gene STARR-seq mESC enhancer starr_14572 Neighboring gene bromodomain adjacent to zinc finger domain, 1B Neighboring gene frizzled class receptor 9 Neighboring gene STARR-positive B cell enhancer ABC_E9263 Neighboring gene tripartite motif-containing 50 Neighboring gene NOL1/NOP2/Sun domain family, member 5 Neighboring gene nuclear pore membrane protein 121

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Segura-Puimedon M, et al. Hum Mol Genet, 2014 Dec 15. PMID 25027326
  2. Affected homologous chromosome pairing and phosphorylation of testis specific histone, H2AX, in male meiosis under FKBP6 deficiency. Noguchi J, et al. J Reprod Dev, 2008 Jun. PMID 18408354
  3. The enigmatic meiotic dense body and its newly discovered component, SCML1, are dispensable for fertility and gametogenesis in mice. Papanikos F, et al. Chromosoma, 2017 Jun. PMID 27165042, Free PMC Article
  4. Comparative analysis of meiotic progression in female mice bearing mutations in genes of the DNA mismatch repair pathway. Kan R, et al. Biol Reprod, 2008 Mar. PMID 18057311
  5. Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Crackower MA, et al. Science, 2003 May 23. PMID 12764197, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. study identifies a requirement of mouse Fkbp6 for biogenesis of Miwi2 piRNAs
    Title: A role for Fkbp6 and the chaperone machinery in piRNA amplification and transposon silencing.
  2. Transposon silencing Secondary piRNA biogenesis Cochaperone: interaction with Hsp90
    Title: A role for Fkbp6 and the chaperone machinery in piRNA amplification and transposon silencing.
  3. fundamental role of Fkbp6 in homologous chromosome synapsis during male meiosis
    Title: Affected homologous chromosome pairing and phosphorylation of testis specific histone, H2AX, in male meiosis under FKBP6 deficiency.
  4. Fkbp6 is a component of the synaptonemal complex essential for sex-specific fertility and for the fidelity of homologous chromosome pairing in meiosis
    Title: Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables Hsp90 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Hsp90 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
NOT enables peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in meiotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in piRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in piRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of viral genome replication ISO
Inferred from Sequence Orthology
more info
  
involved_in protein folding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulatory ncRNA-mediated gene silencing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in siRNA-mediated retrotransposon silencing by heterochromatin formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in synaptonemal complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
inactive peptidyl-prolyl cis-trans isomerase FKBP6
Names
36 kDa FK506-binding protein
36 kDa FKBP
PPIase FKBP6
immunophilin FKBP36
inactive PPIase FKBP6
peptidyl-prolyl cis-trans isomerase FKBP6
rotamase
NP_001264820.1
NP_001264821.1
NP_001264822.1
NP_291049.1
XP_011239215.1
XP_011239217.1
XP_030110809.1
XP_030110810.1
XP_030110811.1
XP_030110812.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001277891.1 → NP_001264820.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 1

    See identical proteins and their annotated locations for NP_001264820.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) transcribes past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC074359, AF367709
    Consensus CDS
    CCDS19738.1
    UniProtKB/Swiss-Prot
    Q91XW8
    Related
    ENSMUSP00000144471.2, ENSMUST00000201534.2
    Conserved Domains (2) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. NM_001277892.2 → NP_001264821.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 2

    See identical proteins and their annotated locations for NP_001264821.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus but is of the same size as isoform 1.
    Source sequence(s)
    AC074359, AY029192
    Consensus CDS
    CCDS80425.1
    UniProtKB/Swiss-Prot
    Q8C1Y1, Q91VB7, Q91XW8, Q91Y30
    Related
    ENSMUSP00000144381.2, ENSMUST00000201784.4
    Conserved Domains (3) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:220 → 284
    TPR_11; TPR repeat

  3. NM_001277893.1 → NP_001264822.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 3

    See identical proteins and their annotated locations for NP_001264822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AC074359
    Consensus CDS
    CCDS80426.1
    UniProtKB/Swiss-Prot
    Q91XW8
    Related
    ENSMUSP00000144460.2, ENSMUST00000201791.4
    Conserved Domains (3) summary
    sd00006
    Location:181 → 207
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:178 → 239
    TPR_12; Tetratricopeptide repeat
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  4. NM_033571.3 → NP_291049.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 1

    See identical proteins and their annotated locations for NP_291049.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC074359
    Consensus CDS
    CCDS19738.1
    UniProtKB/Swiss-Prot
    Q91XW8
    Related
    ENSMUSP00000043193.8, ENSMUST00000044972.11
    Conserved Domains (2) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    135320558..135380662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254952.1 → XP_030110812.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

    Conserved Domains (3) summary
    sd00006
    Location:181 → 207
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:178 → 239
    TPR_12; Tetratricopeptide repeat
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. XM_011240915.1 → XP_011239217.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

    See identical proteins and their annotated locations for XP_011239217.1

    UniProtKB/Swiss-Prot
    Q91XW8
    Conserved Domains (3) summary
    sd00006
    Location:181 → 207
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:178 → 239
    TPR_12; Tetratricopeptide repeat
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  3. XM_011240913.2 → XP_011239215.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

    See identical proteins and their annotated locations for XP_011239215.1

    UniProtKB/Swiss-Prot
    Q91XW8
    Conserved Domains (2) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  4. XM_030254950.2 → XP_030110810.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2

    Conserved Domains (3) summary
    sd00006
    Location:254 → 284
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:254 → 315
    TPR_12; Tetratricopeptide repeat
    pfam00254
    Location:86 → 176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  5. XM_030254951.1 → XP_030110811.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

    Conserved Domains (2) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  6. XM_030254949.1 → XP_030110809.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

    Conserved Domains (2) summary
    sd00006
    Location:218 → 248
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:50 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91XW8.1 GenPept UniProtKB/Swiss-Prot:Q91XW8

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