LOCUS       NM_004116                925 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase 1B (FKBP1B), transcript variant
            1, mRNA.
ACCESSION   NM_004116
VERSION     NM_004116.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 925)
  AUTHORS   Mei,L., Zheng,Y.M., Song,T., Yadav,V.R., Joseph,L.C., Truong,L.,
            Kandhi,S., Barroso,M.M., Takeshima,H., Judson,M.A. and Wang,Y.X.
  TITLE     Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling
            and subsequent pulmonary hypertension through NF-kappaB/cyclin D1
            pathway
  JOURNAL   Nat Commun 11 (1), 3527 (2020)
   PUBMED   32669538
  REMARK    GeneRIF: Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex
            remodeling and subsequent pulmonary hypertension through
            NF-kappaB/cyclin D1 pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 925)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 925)
  AUTHORS   Rebbeck,R.T., Essawy,M.M., Nitu,F.R., Grant,B.D., Gillispie,G.D.,
            Thomas,D.D., Bers,D.M. and Cornea,R.L.
  TITLE     High-Throughput Screens to Discover Small-Molecule Modulators of
            Ryanodine Receptor Calcium Release Channels
  JOURNAL   SLAS Discov 22 (2), 176-186 (2017)
   PUBMED   27760856
  REMARK    GeneRIF: 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.
REFERENCE   4  (bases 1 to 925)
  AUTHORS   Bacchi,M., Jullian,M., Sirigu,S., Fould,B., Huet,T., Bruyand,L.,
            Antoine,M., Vuillard,L., Ronga,L., Chavas,L.M., Nosjean,O.,
            Ferry,G., Puget,K. and Boutin,J.A.
  TITLE     Total chemical synthesis, refolding, and crystallographic structure
            of fully active immunophilin calstabin 2 (FKBP12.6)
  JOURNAL   Protein Sci 25 (12), 2225-2242 (2016)
   PUBMED   27670942
  REMARK    GeneRIF: Total chemical synthesis, refolding, and crystallographic
            structure of fully active immunophilin calstabin 2
REFERENCE   5  (bases 1 to 925)
  AUTHORS   Zhang,J.Z., Waddell,H.M., Wu,E., Dholakia,J., Okolo,C.A.,
            McLay,J.C. and Jones,P.P.
  TITLE     FKBPs facilitate the termination of spontaneous Ca2+ release in
            wild-type RyR2 but not CPVT mutant RyR2
  JOURNAL   Biochem J 473 (14), 2049-2060 (2016)
   PUBMED   27154203
  REMARK    GeneRIF: results suggest that both FKBP12.6 and FKBP12 play
            critical roles in regulating RyR2 function by facilitating the
            termination of SOICR.
REFERENCE   6  (bases 1 to 925)
  AUTHORS   Marx,S.O., Reiken,S., Hisamatsu,Y., Jayaraman,T., Burkhoff,D.,
            Rosemblit,N. and Marks,A.R.
  TITLE     PKA phosphorylation dissociates FKBP12.6 from the calcium release
            channel (ryanodine receptor): defective regulation in failing
            hearts
  JOURNAL   Cell 101 (4), 365-376 (2000)
   PUBMED   10830164
REFERENCE   7  (bases 1 to 925)
  AUTHORS   Deivanayagam,C.C., Carson,M., Thotakura,A., Narayana,S.V. and
            Chodavarapu,R.S.
  TITLE     Structure of FKBP12.6 in complex with rapamycin
  JOURNAL   Acta Crystallogr D Biol Crystallogr 56 (Pt 3), 266-271 (2000)
   PUBMED   10713512
REFERENCE   8  (bases 1 to 925)
  AUTHORS   Noguchi,N., Takasawa,S., Nata,K., Tohgo,A., Kato,I., Ikehata,F.,
            Yonekura,H. and Okamoto,H.
  TITLE     Cyclic ADP-ribose binds to FK506-binding protein 12.6 to release
            Ca2+ from islet microsomes
  JOURNAL   J Biol Chem 272 (6), 3133-3136 (1997)
   PUBMED   9013543
REFERENCE   9  (bases 1 to 925)
  AUTHORS   Lam,E., Martin,M.M., Timerman,A.P., Sabers,C., Fleischer,S.,
            Lukas,T., Abraham,R.T., O'Keefe,S.J., O'Neill,E.A. and
            Wiederrecht,G.J.
  TITLE     A novel FK506 binding protein can mediate the immunosuppressive
            effects of FK506 and is associated with the cardiac ryanodine
            receptor
  JOURNAL   J Biol Chem 270 (44), 26511-26522 (1995)
   PUBMED   7592869
REFERENCE   10 (bases 1 to 925)
  AUTHORS   Arakawa,H., Nagase,H., Hayashi,N., Fujiwara,T., Ogawa,M., Shin,S.
            and Nakamura,Y.
  TITLE     Molecular cloning and expression of a novel human gene that is
            highly homologous to human FK506-binding protein 12kDa (hFKBP-12)
            and characterization of two alternatively spliced transcripts
  JOURNAL   Biochem Biophys Res Commun 200 (2), 836-843 (1994)
   PUBMED   7513996
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM802489.1, BU508033.1 and BC050998.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004116.4.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.176219.1,
                                           ERR279831.1578.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380986.9/ ENSP00000370373.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                BM802489.1         41-87
            48-889              BU508033.1         52-893
            890-925             BC050998.1         1102-1137
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..925
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /note="FKBP prolyl isomerase 1B"
                     /db_xref="GeneID:2281"
                     /db_xref="HGNC:HGNC:3712"
                     /db_xref="MIM:600620"
     exon            1..146
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..436
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /EC_number="5.2.1.8"
                     /note="isoform a is encoded by transcript variant 1;
                     calstabin 2; rotamase; immunophilin FKBP12.6;
                     peptidyl-prolyl cis-trans isomerase FKBP1B; FK506-binding
                     protein 1B; FK506-binding protein 12.6; FKBP-1B;
                     FKBP-12.6; h-FKBP-12; 12.6 kDa FKBP; PPIase FKBP1B; 12.6
                     kDa FK506-binding protein; FK506 binding protein 1B, 12.6
                     kDa"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase FKBP1B
                     isoform a"
                     /protein_id="NP_004107.1"
                     /db_xref="CCDS:CCDS1706.1"
                     /db_xref="GeneID:2281"
                     /db_xref="HGNC:HGNC:3712"
                     /db_xref="MIM:600620"
                     /translation="MGVEIETISPGDGRTFPKKGQTCVVHYTGMLQNGKKFDSSRDRN
                     KPFKFRIGKQEVIKGFEEGAAQMSLGQRAKLTCTPDVAYGATGHPGVIPPNATLIFDV
                     ELLNLE"
     exon            147..194
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            195..307
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            308..925
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      902..907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /note="hexamer: AATAAA"
     polyA_site      925
                     /gene="FKBP1B"
                     /gene_synonym="FKBP12.6; FKBP1L; OTK4; PKBP1L; PPIase"
                     /note="major polyA site"
ORIGIN      
        1 gcagtggcgg cgaggaggcg agccggagcg acggcggggc tggggccgga gccgagccgg
       61 ggtcgggcag cagcagggac cccccagagg cggggcctgt gggaccgcta tgggcgtgga
      121 gatcgagacc atctcccccg gagacggaag gacattcccc aagaagggcc aaacgtgtgt
      181 ggtgcactac acaggaatgc tccaaaatgg gaagaagttt gattcatcca gagacagaaa
      241 caaacctttc aagttcagaa ttggcaaaca ggaagtcatc aaaggttttg aagagggtgc
      301 agcccagatg agcttggggc agagggcgaa gctgacctgc acccctgatg tggcatatgg
      361 agccacgggc caccccggtg tcatccctcc caatgccacc ctcatctttg acgtggagct
      421 gctcaactta gagtgaaggc aggaaggaac tcaaggtggc tggagatggc tgctgctcac
      481 cctcctagcc tgctctgcca ctgggacggc tcctgctttt ggggctcttg atcagtgtgc
      541 taacctcact gcctcatggc atcatccatt ctctctgccc aagttgctct gtatgtgttc
      601 gtcagtgttc atgcgaattc ttgcttgagg aaacttcggt tgcagattga agcatttcag
      661 gttgtgcatt ttgtgtgatg catgtagtag cctttcctga tgacagaaca cagatctctt
      721 gttcgcacaa tctacactgc cttaccttca cttaaaccac acacacaagg tgctcagaca
      781 tgaaatgtac atggcgtacc gtacacagag ggacttgagc cagttacctt tgctgtcact
      841 ttctctctta taaattctgt tagctgctca cttaaacaat gtcctctttg agaaaatgta
      901 aaataaaggc tctgtgcttg acaaa
//
