Format

Send to:

Choose Destination

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

Gene ID: 2281, updated on 23-Dec-2018

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
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

Genomic context

See FKBP1B in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (24033205..24067743)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24272584..24286551)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 2A Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene Neighboring gene major facilitator superfamily domain containing 2B Neighboring gene WD repeat and coiled coil containing Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene splicing factor 3b subunit 6 Neighboring gene family with sequence similarity 228 member B Neighboring gene tumor protein p53 inducible protein 3 Neighboring gene profilin family member 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FK506 binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
cyclic nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' protein folding TAS
Traceable Author Statement
more info
PubMed 
T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling using intracellular calcium source TAS
Traceable Author Statement
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
negative regulation of heart rate ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
neuronal action potential propagation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sequestering of calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
protein maturation by protein folding TAS
Traceable Author Statement
more info
PubMed 
protein peptidyl-prolyl isomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein peptidyl-prolyl isomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein refolding TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cytosolic calcium ion concentration IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ryanodine-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to redox state IDA
Inferred from Direct Assay
more info
PubMed 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IC
Inferred by Curator
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

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
NP_001309893.1
NP_004107.1
NP_473374.1
XP_011531001.1
XP_016859082.1
XP_016859083.1
XP_016859084.1
XP_016859085.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001322963.1NP_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:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. NM_001322964.1NP_001309893.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform c

    Status: VALIDATED

    Source sequence(s)
    BC050998, BF216711, BM802489
    Consensus CDS
    CCDS82423.1
    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  3. NM_004116.5NP_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
    Related
    ENSP00000370373.4, ENST00000380986.8
    Conserved Domains (1) summary
    pfam00254
    Location:13105
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. NM_054033.3NP_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, BM802489
    Consensus CDS
    CCDS33153.1
    UniProtKB/Swiss-Prot
    P68106
    Related
    ENSP00000370379.4, ENST00000380991.8
    Conserved Domains (1) summary
    pfam00254
    Location:1363
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RNA

  1. NR_136536.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050998, BM802489
    Related
    ENST00000438630.5
  2. NR_136538.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050998, BM802489
  3. NR_136539.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050998, BM802489, BU147063

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    24033205..24067743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003594.1XP_016859083.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X2

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. XM_011532699.3XP_011531001.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

    See identical proteins and their annotated locations for XP_011531001.1

    Conserved Domains (1) summary
    pfam00254
    Location:1363
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  3. XM_017003595.2XP_016859084.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X2

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. XM_017003593.2XP_016859082.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X2

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  5. XM_017003596.2XP_016859085.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X2

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
Support Center