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

    Gene ID: 2281, updated on 4-Jan-2025

    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
    NEW
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    Genomic context

    See FKBP1B in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24033206..24063681)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24067904..24098366)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24238941-24239496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24239497-24240052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:24244092-24244708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24246333-24247318 Neighboring gene MFSD2 lysolipid transporter B, sphingolipid Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11225 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24276709-24276900 Neighboring gene Sharpr-MPRA regulatory region 5215 Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene WD repeat and coiled coil containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24298482-24299014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24299015-24299546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24305416-24306346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11227 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: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (9 hits/1265 screens)

    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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in 'de novo' protein folding PubMed 
    involved_in T cell proliferation  
    involved_in calcium-mediated signaling PubMed 
    involved_in insulin secretion involved in cellular response to glucose stimulus  
    involved_in negative regulation of calcium-mediated signaling PubMed 
    involved_in negative regulation of heart rate  
    involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus  
    involved_in negative regulation of release of sequestered calcium ion into cytosol PubMed 
    involved_in neuronal action potential propagation  
    involved_in positive regulation of axon regeneration  
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of sequestering of calcium ion PubMed 
    involved_in protein maturation by protein folding PubMed 
    involved_in protein refolding PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in release of sequestered calcium ion into cytosol  
    involved_in response to hydrogen peroxide  
    involved_in response to redox state PubMed 
    involved_in response to vitamin E  
    involved_in smooth muscle contraction  
    Component Evidence Code Pubs
    located_in Z disc PubMed 
    part_of calcium channel complex PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in membrane PubMed 
    is_active_in sarcoplasmic reticulum membrane  
    located_in sarcoplasmic reticulum membrane  

    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
    XP_054197011.1
    XP_054197012.1
    XP_054197013.1
    XP_054197014.1

    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_001322963.2 → 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
    2. 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
    3. 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
    4. 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

    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: 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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017003594.2 → 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
    2. 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
    3. 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
    4. 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

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      24067904..24098366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      F8W6G9
    2. XM_054341038.1 → XP_054197013.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

      UniProtKB/TrEMBL
      F8W6G9
    3. XM_054341036.1 → XP_054197011.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

      UniProtKB/TrEMBL
      F8W6G9
    4. XM_054341039.1 → XP_054197014.1  peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

      UniProtKB/TrEMBL
      F8W6G9
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