LOCUS       NP_000792                108 aa            linear   PRI 22-OCT-2008
DEFINITION  FK506 binding protein 1A, 12kDa [Homo sapiens].
ACCESSION   NP_000792
VERSION     NP_000792.1  GI:4503725
DBSOURCE    REFSEQ: accession NM_000801.3
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 108)
  AUTHORS   Gerard,M., Debyser,Z., Desender,L., Baert,J., Brandt,I.,
            Baekelandt,V. and Engelborghs,Y.
  TITLE     FK506 binding protein 12 differentially accelerates fibril
            formation of wild type alpha-synuclein and its clinical mutants
            A30P or A53T
  JOURNAL   J. Neurochem. 106 (1), 121-133 (2008)
   PUBMED   18346205
  REMARK    GeneRIF: We investigated in detail the effect of FKBP12 on early
            aggregation and on fibril formation of wild-type, A53T and A30P
            alpha-SYN. FKBP12 has a much smaller effect on the fibril formation
            of these two clinical mutants of alpha-SYN.
REFERENCE   2  (residues 1 to 108)
  AUTHORS   Shor,B., Zhang,W.G., Toral-Barza,L., Lucas,J., Abraham,R.T.,
            Gibbons,J.J. and Yu,K.
  TITLE     A new pharmacologic action of CCI-779 involves FKBP12-independent
            inhibition of mTOR kinase activity and profound repression of
            global protein synthesis
  JOURNAL   Cancer Res. 68 (8), 2934-2943 (2008)
   PUBMED   18413763
  REMARK    GeneRIF: CCI-779 inhibits mTOR signaling through an
            FKBP12-independent mechanism that leads to profound translational
            repression in cancer cells.
REFERENCE   3  (residues 1 to 108)
  AUTHORS   Bauriedel,G., Jabs,A., Kraemer,S., Nickenig,G. and Skowasch,D.
  TITLE     Neointimal expression of rapamycin receptor FK506-binding protein
            FKBP12: postinjury animal and human in-stent restenosis tissue
            characteristics
  JOURNAL   J. Vasc. Res. 45 (2), 173-178 (2008)
   PUBMED   17962721
  REMARK    GeneRIF: FKBP12 is predominantly present during early neointima
            formation, while mature neointimal atheromas show a relatively low
            expression without confinement to luminal areas.
REFERENCE   4  (residues 1 to 108)
  AUTHORS   Ikura,T. and Ito,N.
  TITLE     Requirements for peptidyl-prolyl isomerization activity: a
            comprehensive mutational analysis of the substrate-binding cavity
            of FK506-binding protein 12
  JOURNAL   Protein Sci. 16 (12), 2618-2625 (2007)
   PUBMED   18029417
  REMARK    GeneRIF: fndings suggest that the peptidyl-prolyl isomerase
            activity requires only the hydrophobic cavity that captures the
            Pro-containing peptide
REFERENCE   5  (residues 1 to 108)
  AUTHORS   Seidler,T., Loughrey,C.M., Zibrova,D., Kettlewell,S., Teucher,N.,
            Kogler,H., Hasenfuss,G. and Smith,G.L.
  TITLE     Overexpression of FK-506 binding protein 12.0 modulates excitation
            contraction coupling in adult rabbit ventricular cardiomyocytes
  JOURNAL   Circ. Res. 101 (10), 1020-1029 (2007)
   PUBMED   17872463
  REMARK    GeneRIF: FKBP12.0-RyR2 interaction can regulate the gain of
            excitation-contraction coupling in cardiomyocytes
REFERENCE   6  (residues 1 to 108)
  AUTHORS   DiLella,A.G., Hawkins,A., Craig,R.J., Schreiber,S.L. and
            Griffin,C.A.
  TITLE     Chromosomal band assignments of the genes encoding human FKBP12 and
            FKBP13
  JOURNAL   Biochem. Biophys. Res. Commun. 189 (2), 819-823 (1992)
   PUBMED   1281998
REFERENCE   7  (residues 1 to 108)
  AUTHORS   Jayaraman,T., Brillantes,A.M., Timerman,A.P., Fleischer,S.,
            Erdjument-Bromage,H., Tempst,P. and Marks,A.R.
  TITLE     FK506 binding protein associated with the calcium release channel
            (ryanodine receptor)
  JOURNAL   J. Biol. Chem. 267 (14), 9474-9477 (1992)
   PUBMED   1374404
REFERENCE   8  (residues 1 to 108)
  AUTHORS   Lepre,C.A., Thomson,J.A. and Moore,J.M.
  TITLE     Solution structure of FK506 bound to FKBP-12
  JOURNAL   FEBS Lett. 302 (1), 89-96 (1992)
   PUBMED   1375171
REFERENCE   9  (residues 1 to 108)
  AUTHORS   Standaert,R.F., Galat,A., Verdine,G.L. and Schreiber,S.L.
  TITLE     Molecular cloning and overexpression of the human FK506-binding
            protein FKBP
  JOURNAL   Nature 346 (6285), 671-674 (1990)
   PUBMED   1696686
REFERENCE   10 (residues 1 to 108)
  AUTHORS   Maki,N., Sekiguchi,F., Nishimaki,J., Miwa,K., Hayano,T.,
            Takahashi,N. and Suzuki,M.
  TITLE     Complementary DNA encoding the human T-cell FK506-binding protein,
            a peptidylprolyl cis-trans isomerase distinct from cyclophilin
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (14), 5440-5443 (1990)
   PUBMED   1695378
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX870892.1, BC119732.1,
            AL136531.16 and AI753994.1.
            
            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. The protein is a cis-trans prolyl isomerase that binds
            the immunosuppressants FK506 and rapamycin. It interacts with
            several intracellular signal transduction proteins including type I
            TGF-beta receptor. It also interacts with multiple intracellular
            calcium release channels, and coordinates multi-protein complex
            formation of the tetrameric skeletal muscle ryanodine receptor. In
            mouse, deletion of this homologous gene causes congenital heart
            disorder known as noncompaction of left ventricular myocardium.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified. The human genome contains five pseudogenes
            related to this gene, at least one of which is transcribed.
            [provided by RefSeq].
            
            Transcript Variant: This variant (12B) is a longer transcript,
            which includes additional bases at the 3' UTR, as compared to
            variant 12A. The coding region remains the same.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the
            Entrez Gene record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..108
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..108
                     /product="FK506 binding protein 1A, 12kDa"
                     /EC_number="5.2.1.8"
                     /note="FK506-binding protein 1A (12kD); FK506-binding
                     protein, T-cell, 12-kD; protein kinase C inhibitor 2;
                     peptidyl-prolyl cis-trans isomerase; rotamase;
                     immunophilin FKBP12; FK506-binding protein 12"
                     /calculated_mol_wt=11820
     CDS             1..108
                     /gene="FKBP1A"
                     /gene_synonym="FKBP1"
                     /gene_synonym="PKC12"
                     /gene_synonym="PKCI2"
                     /gene_synonym="FKBP12"
                     /gene_synonym="PPIASE"
                     /gene_synonym="FKBP-12"
                     /gene_synonym="FKBP12C"
                     /coded_by="NM_000801.3:175..501"
                     /db_xref="CCDS:CCDS13014.1"
                     /db_xref="GeneID:2280"
                     /db_xref="HGNC:3711"
                     /db_xref="HPRD:01741"
                     /db_xref="MIM:186945"
ORIGIN      
        1 mgvqvetisp gdgrtfpkrg qtcvvhytgm ledgkkfdss rdrnkpfkfm lgkqevirgw
       61 eegvaqmsvg qrakltispd yaygatghpg iipphatlvf dvellkle
//