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    FKBP10 FKBP prolyl isomerase 10 [ Homo sapiens (human) ]

    Gene ID: 60681, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FKBP10provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 10provided by HGNC
    Primary source
    HGNC:HGNC:18169
    See related
    Ensembl:ENSG00000141756 MIM:607063; AllianceGenome:HGNC:18169
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI6; BRKS; OI11; TLH1; BRKS1; FKBP65; PPIASE; hFKBP65
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 31.0), endometrium (RPKM 25.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FKBP10 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41813004..41823213)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42669564..42679770)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39969256..39979465)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene junction plakoglobin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927459-39927963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927964-39928467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39932003-39932506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:39942255-39942467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39947785-39948448 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956106-39956612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956613-39957119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12172 Neighboring gene prolyl 3-hydroxylase family member 4 (inactive) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971057-39971558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971559-39972058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39974907-39975818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39975819-39976730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39977650-39978248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39978249-39978845 Neighboring gene 5'-nucleotidase, cytosolic IIIB Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12174 Neighboring gene kelch like family member 10 Neighboring gene kelch like family member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40019607-40020116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8503

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin. Tauseef U, et al. J Ayub Med Coll Abbottabad, 2023 Apr-Jun. PMID 37422836
    2. FKBP10 functioned as a cancer-promoting factor mediates cell proliferation, invasion, and migration via regulating PI3K signaling pathway in stomach adenocarcinoma. Wang RG, et al. Kaohsiung J Med Sci, 2020 May. PMID 31868996
    3. Comprehensive evaluation of FKBP10 expression and its prognostic potential in gastric cancer. Liang L, et al. Oncol Rep, 2019 Aug. PMID 31233188, Free PMC Article
    4. Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report. Maghami F, et al. BMC Med Genet, 2018 May 25. PMID 29801479, Free PMC Article
    5. New insights on the clinical variability of FKBP10 mutations. Essawi OH, et al. Eur J Med Genet, 2020 Sep. PMID 32531462

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
      Title: Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
    2. Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.
      Title: Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.
    3. Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
      Title: Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
    4. High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.
      Title: High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.
    5. Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
      Title: Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
    6. circREEP3 Drives Colorectal Cancer Progression via Activation of FKBP10 Transcription and Restriction of Antitumor Immunity.
      Title: circREEP3 Drives Colorectal Cancer Progression via Activation of FKBP10 Transcription and Restriction of Antitumor Immunity.
    7. FK506 binding protein 10: a key actor of collagen crosslinking in clear cell renal cell carcinoma.
      Title: FK506 binding protein 10: a key actor of collagen crosslinking in clear cell renal cell carcinoma.
    8. Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
      Title: Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
    9. FKBP10 promotes proliferation of glioma cells via activating AKT-CREB-PCNA axis.
      Title: FKBP10 promotes proliferation of glioma cells via activating AKT-CREB-PCNA axis.
    10. FKBP10 functioned as a cancer-promoting factor mediates cell proliferation, invasion, and migration via regulating PI3K signaling pathway in stomach adenocarcinoma.
      Title: FKBP10 functioned as a cancer-promoting factor mediates cell proliferation, invasion, and migration via regulating PI3K signaling pathway in stomach adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bruck syndrome 1
    MedGen: C1850168 OMIM: 259450 GeneReviews: Not available
    		Compare labs
    Osteogenesis imperfecta type 11
    MedGen: C3151218 OMIM: 610968 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20683, FLJ22041, FLJ23833

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FK506 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidyl-prolyl cis-trans isomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP10
    Names
    65 kDa FK506-binding protein
    65 kDa FKBP
    FK506 binding protein 10, 65 kDa
    FK506-binding protein 10
    FKBP-10
    FKBP-65
    PPIase FKBP10
    Telopeptide lysyl hydroxylase, bone-specific
    immunophilin FKBP65
    osteognesis imperfecta with congenital joint contractures
    rotamase
    NP_068758.3
    XP_011523401.1
    XP_011523402.1
    XP_047292471.1
    XP_054172841.1
    XP_054172842.1
    XP_054172843.1

    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.

    Genomic

    1. NG_015860.1 RefSeqGene

      Range
      5001..15508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_12

    mRNA and Protein(s)

    1. NM_021939.4 → NP_068758.3  peptidyl-prolyl cis-trans isomerase FKBP10 precursor

      See identical proteins and their annotated locations for NP_068758.3

      Status: REVIEWED

      Source sequence(s)
      AF337909, AK092708, AL832985
      Consensus CDS
      CCDS11409.1
      UniProtKB/Swiss-Prot
      Q7Z3R4, Q96AY3, Q9H3N3, Q9H6J3, Q9H6N5, Q9UF89
      UniProtKB/TrEMBL
      Q658U4
      Related
      ENSP00000317232.4, ENST00000321562.9
      Conserved Domains (3) summary
      cd00051
      Location:506 → 567
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00254
      Location:55 → 147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13499
      Location:504 → 568
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      41813004..41823213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525099.4 → XP_011523401.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X1

      UniProtKB/TrEMBL
      Q658U4
      Conserved Domains (3) summary
      cd00051
      Location:525 → 586
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00254
      Location:55 → 147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13499
      Location:523 → 587
      EF-hand_7; EF-hand domain pair

    2. XM_011525100.3 → XP_011523402.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X2

      Conserved Domains (3) summary
      cd00051
      Location:434 → 495
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00254
      Location:76 → 168
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13499
      Location:432 → 496
      EF-hand_7; EF-hand domain pair

    3. XM_047436515.1 → XP_047292471.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42669564..42679770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316866.1 → XP_054172841.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X1

    2. XM_054316867.1 → XP_054172842.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X2

    3. XM_054316868.1 → XP_054172843.1  peptidyl-prolyl cis-trans isomerase FKBP10 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AY3.1 GenPept UniProtKB/Swiss-Prot:Q96AY3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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