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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Title: Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
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.
Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
Title: Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002C18 (e-PCR)
- UniSTS:14601

G19926 (e-PCR)
- UniSTS:14602

WI-19316 (e-PCR)
- UniSTS:51752

RH66668 (e-PCR)
- UniSTS:27529

FKBP10_1478 (e-PCR)
- UniSTS:277241

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FK506 binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity	IEA Inferred from Electronic Annotation 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 regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation 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

EC 5.2.1.8

XP_011523401.1

EC 5.2.1.8

XP_011523402.1

EC 5.2.1.8

XP_047292471.1

EC 5.2.1.8

XP_054172841.1

EC 5.2.1.8

XP_054172842.1

EC 5.2.1.8

XP_054172843.1

EC 5.2.1.8

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

NG_015860.1 RefSeqGene

Range

5001..15508

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_12

mRNA and Protein(s)

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41813004..41823213

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

42669564..42679770

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316866.1 → XP_054172841.1 peptidyl-prolyl cis-trans isomerase FKBP10 isoform X1
XM_054316867.1 → XP_054172842.1 peptidyl-prolyl cis-trans isomerase FKBP10 isoform X2
XM_054316868.1 → XP_054172843.1 peptidyl-prolyl cis-trans isomerase FKBP10 isoform X3