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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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