FKBP1A FKBP prolyl isomerase 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FKBP1Aprovided by HGNC
Official Full Name: FKBP prolyl isomerase 1Aprovided by HGNC
Primary source: HGNC:HGNC:3711
See related: Ensembl:ENSG00000088832 MIM:186945; AllianceGenome:HGNC:3711
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: FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A
Summary: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]
Expression: Ubiquitous expression in placenta (RPKM 88.0), thyroid (RPKM 87.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (1368978..1393054, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (1418161..1442241, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (1349622..1373698, complement)

Chromosome 20 - NC_000020.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
Title: HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
The high FKBP1A expression in WBCs as a potential screening biomarker for pancreatic cancer.
Title: The high FKBP1A expression in WBCs as a potential screening biomarker for pancreatic cancer.
Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma Progression.
Title: Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma Progression.
Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis Pathway.
Title: Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis Pathway.
The Prognostic Significance of FKBP1A and Its Related Immune Infiltration in Liver Hepatocellular Carcinoma.
Title: The Prognostic Significance of FKBP1A and Its Related Immune Infiltration in Liver Hepatocellular Carcinoma.
FKBP1A upregulation correlates with poor prognosis and increased metastatic potential of HNSCC.
Title: FKBP1A upregulation correlates with poor prognosis and increased metastatic potential of HNSCC.
FKBP51 promotes invasion and migration by increasing the autophagic degradation of TIMP3 in clear cell renal cell carcinoma.
Title: FKBP51 promotes invasion and migration by increasing the autophagic degradation of TIMP3 in clear cell renal cell carcinoma.
CircRNA pappalysin 1 facilitates prostate cancer development through miR-515-5p/FKBP1A axis.
Title: CircRNA pappalysin 1 facilitates prostate cancer development through miR-515-5p/FKBP1A axis.
Regulation of the Ca(2+)-activated chloride channel Anoctamin-1 (TMEM16A) by Ca(2+)-induced interaction with FKBP12 and calcineurin.
Title: Regulation of the Ca(2+)-activated chloride channel Anoctamin-1 (TMEM16A) by Ca(2+)-induced interaction with FKBP12 and calcineurin.
Study discovered that FKBP12 is essential for initiating necrosome formation and RIPK1-RIPK3-MLKL signaling pathway activation in response to TNF receptor 1 ligation. In addition, FKBP12 is indispensable for RIPK1 and RIPK3 expression and subsequent spontaneous phosphorylation, which are essential processes for initial necrosome formation and necroptotic signal transduction.
Title: FKBP12 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation.

Submit: New GeneRIF Correction See all GeneRIFs (54)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Macrophage- and T-cell-tropic V3 loop peptides of HIV-1 gp120 bind specifically to the active site of the immunophilins FK506-binding protein (FKBP12), and cyclophilins A and B, and inhibit their peptidyl-prolyl cis-trans isomerase (PPIase) activities	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X52220 (e-PCR)
- UniSTS:31508

SGC35429 (e-PCR)
- UniSTS:6189

RH68384 (e-PCR)
- UniSTS:7242

RH141052 (e-PCR)
- UniSTS:223052

SGC33430 (e-PCR)
- UniSTS:15710

RH40885 (e-PCR)
- UniSTS:92077

RH68934 (e-PCR)
- UniSTS:91374

D20S1003 (e-PCR)
- UniSTS:154619

SHGC-32807 (e-PCR)
- UniSTS:167679

Readthrough FKBP1A-SDCBP2

Readthrough gene: FKBP1A-SDCBP2, Included gene: SDCBP2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FK506 binding	IDA Inferred from Direct Assay more info	PubMed
enables FK506 binding	NAS Non-traceable Author Statement more info	PubMed
enables I-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
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 activin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables macrolide binding	NAS Non-traceable Author Statement more info	PubMed
enables peptidyl-prolyl cis-trans isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-prolyl cis-trans isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-prolyl cis-trans isomerase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transforming growth factor beta receptor binding	TAS Traceable Author Statement more info	PubMed
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	TAS Traceable Author Statement more info	PubMed
enables type I transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type I transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' protein folding	TAS Traceable Author Statement more info	PubMed
involved_in T cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein maturation by protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein peptidyl-prolyl isomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein refolding	TAS Traceable Author Statement more info	PubMed
involved_in regulation of amyloid precursor protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in supramolecular fiber organization	IDA Inferred from Direct Assay more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
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 cytoplasmic side of membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of ryanodine receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal cisterna	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP1A

Names: 12 kDa FK506-binding protein; 12 kDa FKBP; FK506 binding protein 1A, 12kDa; FK506 binding protein12; FK506-binding protein 1; FK506-binding protein 12; FK506-binding protein 1A; FK506-binding protein, T-cell, 12-kD; FKBP12-Exip3; PPIase FKBP1A; calstabin-1; immunophilin FKBP12; protein kinase C inhibitor 2; rotamase

NP_000792.1

EC 5.2.1.8

NP_001186715.1

EC 5.2.1.8

NP_463460.1

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.

mRNA and Protein(s)

NM_000801.5 → NP_000792.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

See identical proteins and their annotated locations for NP_000792.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as 12B) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AL136531, BC119732, CA450516

Consensus CDS

CCDS13014.1

UniProtKB/Swiss-Prot

D3DVW6, P20071, P62942, Q4VC47, Q6FGD9, Q6LEU3, Q9H103, Q9H566

UniProtKB/TrEMBL

F6T7Q3

Related

ENSP00000383003.4, ENST00000400137.9

Conserved Domains (1) summary

COG0545
Location:2 → 106

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
NM_001199786.2 → NP_001186715.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL136531, BU540706, CA450516

Consensus CDS

CCDS74688.1

UniProtKB/TrEMBL

A0A087WTS4, Q1JUQ4, Q5W0X3

Related

ENSP00000478093.1, ENST00000618612.5

Conserved Domains (1) summary

COG0545
Location:2 → 28

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
NM_054014.4 → NP_463460.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

See identical proteins and their annotated locations for NP_463460.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as 12A) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

BC005147, CN426120, CX870892, X52220

Consensus CDS

CCDS13014.1

UniProtKB/Swiss-Prot

D3DVW6, P20071, P62942, Q4VC47, Q6FGD9, Q6LEU3, Q9H103, Q9H566

UniProtKB/TrEMBL

F6T7Q3

Related

ENSP00000371138.3, ENST00000381719.8

Conserved Domains (1) summary

COG0545
Location:2 → 106

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]