FKBP1B FKBP prolyl isomerase 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FKBP1Bprovided by HGNC
Official Full Name: FKBP prolyl isomerase 1Bprovided by HGNC
Primary source: HGNC:HGNC:3712
See related: Ensembl:ENSG00000119782 MIM:600620; AllianceGenome:HGNC:3712
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OTK4; FKBP1L; PKBP1L; PPIase; FKBP12.6
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. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 4.2), brain (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (24033206..24063681)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (24067904..24098366)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (24272611..24286551)

Chromosome 2 - NC_000002.12 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?

Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-kappaB/cyclin D1 pathway.
Title: Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-κB/cyclin D1 pathway.
Our FRET-based HTS detects RyR binding of accessory proteins calmodulin (CaM) or FKBP12.6...One compound increased FRET and inhibited RyR1, which was only significant at nM [Ca(2+)], and accentuated without CaM present.
Title: High-Throughput Screens to Discover Small-Molecule Modulators of Ryanodine Receptor Calcium Release Channels.
Total chemical synthesis, refolding, and crystallographic structure of fully active immunophilin calstabin 2
Title: Total chemical synthesis, refolding, and crystallographic structure of fully active immunophilin calstabin 2 (FKBP12.6).
results suggest that both FKBP12.6 and FKBP12 play critical roles in regulating RyR2 function by facilitating the termination of SOICR.
Title: FKBPs facilitate the termination of spontaneous Ca2+ release in wild-type RyR2 but not CPVT mutant RyR2.
How phosphorylation of RyR affects channel activity and whether proteins such as the FK-506 binding proteins (FKBP12 and FKBP12.6) are involved in heart failure
Title: The ryanodine receptor provides high throughput Ca2+-release but is precisely regulated by networks of associated proteins: a focus on proteins relevant to phosphorylation.
RyRs have been identified as important targets of FKBP12 and FKBP12.6, members of the immunophilin family
Title: Bcl-2 and FKBP12 bind to IP3 and ryanodine receptors at overlapping sites: the complexity of protein-protein interactions for channel regulation.
Sirolimus-FKBP12.6 impairs endothelial barrier function by activation of protein kinase C-alpha and downstream disruption of the p120-VE cadherin interaction in vascular endothelium.
Title: Sirolimus-FKBP12.6 impairs endothelial barrier function through protein kinase C-α activation and disruption of the p120-vascular endothelial cadherin interaction.
These data corroborate other studies suggesting that mutations in FKBP12 and FKBP12.6 genes are not commonly related to cardiac diseases.
Title: A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy.
FKBP12.6-deficient mice with cardiac hypertrophy do not display exercise-induced arrhythmia and/or sudden cardiac death.
Title: Transgenic analysis of the role of FKBP12.6 in cardiac function and intracellular calcium release.
analysis of the ryanodine receptor FK506-binding protein subunit
Title: Mapping the ryanodine receptor FK506-binding protein subunit using fluorescence resonance energy transfer.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH68268 (e-PCR)
- UniSTS:71454

FKBP1B_2367 (e-PCR)
- UniSTS:280673

SHGC-31628 (e-PCR)
- UniSTS:12521

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FK506 binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables cyclic nucleotide 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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ryanodine-sensitive calcium-release channel activity	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 'de novo' protein folding	TAS Traceable Author Statement more info	PubMed
involved_in T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling using intracellular calcium source	TAS Traceable Author Statement more info	PubMed
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in neuronal action potential propagation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sequestering of calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation by protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein peptidyl-prolyl isomerization	IBA Inferred from Biological aspect of Ancestor more info
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 cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to redox state	IDA Inferred from Direct Assay more info	PubMed
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
part_of calcium channel complex	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 cytosol	IC Inferred by Curator more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP1B

Names: 12.6 kDa FK506-binding protein; 12.6 kDa FKBP; FK506 binding protein 1B, 12.6 kDa; FK506-binding protein 12.6; FK506-binding protein 1B; FKBP-12.6; FKBP-1B; PPIase FKBP1B; calstabin 2; h-FKBP-12; immunophilin FKBP12.6; rotamase

NP_001309892.1

EC 5.2.1.8

NP_001309893.1

EC 5.2.1.8

NP_004107.1

EC 5.2.1.8

NP_473374.1

EC 5.2.1.8

XP_016859082.1

EC 5.2.1.8

XP_016859083.1

EC 5.2.1.8

XP_016859084.1

EC 5.2.1.8

XP_016859085.1

EC 5.2.1.8

XP_054197011.1

EC 5.2.1.8

XP_054197012.1

EC 5.2.1.8

XP_054197013.1

EC 5.2.1.8

XP_054197014.1

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_001322963.2 → NP_001309892.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform c

Status: VALIDATED

Source sequence(s)

BC050998, BM802489

Consensus CDS

CCDS82423.1

UniProtKB/TrEMBL

F8W6G9

Related

ENSP00000406593.1, ENST00000452109.1

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001322964.2 → NP_001309893.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform c

Status: VALIDATED

Source sequence(s)

BC050998, BF216711

Consensus CDS

CCDS82423.1

UniProtKB/TrEMBL

F8W6G9

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_004116.5 → NP_004107.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform a

See identical proteins and their annotated locations for NP_004107.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region, compared to variant 2. The resulting isoform (a) has a longer and distinct C-terminus, compared to isoform a.

Source sequence(s)

BC050998, BM802489, BU508033

Consensus CDS

CCDS1706.1

UniProtKB/Swiss-Prot

P68106, Q13664, Q16645, Q53TM2, Q9BQ40

Related

ENSP00000370373.4, ENST00000380986.9

Conserved Domains (1) summary

pfam00254
Location:13 → 105

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_054033.4 → NP_473374.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform b

See identical proteins and their annotated locations for NP_473374.1

Status: VALIDATED

Source sequence(s)

BC050998, BI546013

Consensus CDS

CCDS33153.1

UniProtKB/Swiss-Prot

P68106

Related

ENSP00000370379.4, ENST00000380991.8

Conserved Domains (1) summary

pfam00254
Location:13 → 63

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RNA

NR_136536.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

BC050998, BM802489

Related

ENST00000438630.5
NR_136538.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

BC050998, BM802489

Related

ENST00000421839.1
NR_136539.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

BC050998, BM802489, BU147063

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

24033206..24063681

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017003594.2 → XP_016859083.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
XM_017003593.3 → XP_016859082.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
XM_017003596.3 → XP_016859085.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
XM_017003595.3 → XP_016859084.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

24067904..24098366

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341037.1 → XP_054197012.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9
XM_054341038.1 → XP_054197013.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9
XM_054341036.1 → XP_054197011.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9
XM_054341039.1 → XP_054197014.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

UniProtKB/TrEMBL

F8W6G9