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

Gene ID: 60681, updated on 2-Nov-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
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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

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