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

Gene ID: 2281, updated on 22-May-2022

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
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Genomic context

See FKBP1B in Genome Data Viewer
Location:
2p23.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24033206..24063681)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24084432..24098366)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24272611..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 Sharpr-MPRA regulatory region 11775 Neighboring gene major facilitator superfamily domain containing 2B Neighboring gene Sharpr-MPRA regulatory region 5215 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

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
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
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 cardiac muscle contraction by regulation of the release of sequestered calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in 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_016859082.1
XP_016859083.1
XP_016859084.1
XP_016859085.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001322963.2NP_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_001322964.2NP_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: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, ENST00000380986.9
    Conserved Domains (1) summary
    pfam00254
    Location:13105
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. NM_054033.4NP_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:1363
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RNA

  1. NR_136536.2 RNA Sequence

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    BC050998, BM802489
    Related
    ENST00000421839.1
  3. NR_136539.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050998, BM802489, BU147063

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    24033206..24063681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. XM_017003593.3XP_016859082.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  3. XM_017003596.3XP_016859085.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

    UniProtKB/TrEMBL
    F8W6G9
    Conserved Domains (1) summary
    pfam00254
    Location:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. XM_017003595.3XP_016859084.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24084432..24098366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)