LOCUS       NM_021939               2585 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase 10 (FKBP10), mRNA.
ACCESSION   NM_021939
VERSION     NM_021939.4
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 2585)
  AUTHORS   Merkuryeva,E.S., Markova,T.V., Kenis,V.M., Agranovich,O.E.,
            Dan,I.M., Kotalevskaya,Y.Y., Shchagina,O.A., Ryzhkova,O.P.,
            Fomenko,S.S., Dadali,E.L. and Kutsev,S.I.
  TITLE     Presentation of Rare Phenotypes Associated with the FKBP10 Gene
  JOURNAL   Genes (Basel) 15 (6), 674 (2024)
   PUBMED   38927610
  REMARK    GeneRIF: Presentation of Rare Phenotypes Associated with the FKBP10
            Gene.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2585)
  AUTHORS   Tauseef,U., Ibrahim,M., Noor,N. and Hanif,M.
  TITLE     Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A
            Pakistani Family Of Pashtun Origin
  JOURNAL   J Ayub Med Coll Abbottabad 35 (2), 341-347 (2023)
   PUBMED   37422836
  REMARK    GeneRIF: Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In
            A Pakistani Family Of Pashtun Origin.
REFERENCE   3  (bases 1 to 2585)
  AUTHORS   Tan,Z., Shek,H.T., Chen,P., Dong,Z., Zhou,Y., Yin,S., Qiu,A.,
            Dong,L., Gao,B. and To,M.K.T.
  TITLE     Clinical features and molecular characterization of Chinese
            patients with FKBP10 variants
  JOURNAL   Mol Genet Genomic Med 11 (4), e2122 (2023)
   PUBMED   36655627
  REMARK    GeneRIF: Clinical features and molecular characterization of
            Chinese patients with FKBP10 variants.
REFERENCE   4  (bases 1 to 2585)
  AUTHORS   Ma,W., Li,X., Yang,L., Pan,J., Chen,Y., Lu,Y., Dong,X., Li,D. and
            Gan,W.
  TITLE     High VSX1 expression promotes the aggressiveness of clear cell
            renal cell carcinoma by transcriptionally regulating FKBP10
  JOURNAL   J Transl Med 20 (1), 554 (2022)
   PUBMED   36463181
  REMARK    GeneRIF: High VSX1 expression promotes the aggressiveness of clear
            cell renal cell carcinoma by transcriptionally regulating FKBP10.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2585)
  AUTHORS   Otaify,G.A., Abdel-Hamid,M.S., Hassib,N.F., Elhossini,R.M.,
            Abdel-Ghafar,S.F. and Aglan,M.S.
  TITLE     Bruck syndrome in 13 new patients: Identification of five novel
            FKBP10 and PLOD2 variants and further expansion of the phenotypic
            spectrum
  JOURNAL   Am J Med Genet A 188 (6), 1815-1825 (2022)
   PUBMED   35278031
  REMARK    GeneRIF: Bruck syndrome in 13 new patients: Identification of five
            novel FKBP10 and PLOD2 variants and further expansion of the
            phenotypic spectrum.
REFERENCE   6  (bases 1 to 2585)
  AUTHORS   Foster,L.J., Rudich,A., Talior,I., Patel,N., Huang,X.,
            Furtado,L.M., Bilan,P.J., Mann,M. and Klip,A.
  TITLE     Insulin-dependent interactions of proteins with GLUT4 revealed
            through stable isotope labeling by amino acids in cell culture
            (SILAC)
  JOURNAL   J Proteome Res 5 (1), 64-75 (2006)
   PUBMED   16396496
REFERENCE   7  (bases 1 to 2585)
  AUTHORS   Patterson,C.E., Abrams,W.R., Wolter,N.E., Rosenbloom,J. and
            Davis,E.C.
  TITLE     Developmental regulation and coordinate reexpression of FKBP65 with
            extracellular matrix proteins after lung injury suggest a
            specialized function for this endoplasmic reticulum immunophilin
  JOURNAL   Cell Stress Chaperones 10 (4), 285-295 (2005)
   PUBMED   16333983
REFERENCE   8  (bases 1 to 2585)
  AUTHORS   Zhang,H., Li,X.J., Martin,D.B. and Aebersold,R.
  TITLE     Identification and quantification of N-linked glycoproteins using
            hydrazide chemistry, stable isotope labeling and mass spectrometry
  JOURNAL   Nat Biotechnol 21 (6), 660-666 (2003)
   PUBMED   12754519
REFERENCE   9  (bases 1 to 2585)
  AUTHORS   Patterson,C.E., Gao,J., Rooney,A.P. and Davis,E.C.
  TITLE     Genomic organization of mouse and human 65 kDa FK506-binding
            protein genes and evolution of the FKBP multigene family
  JOURNAL   Genomics 79 (6), 881-889 (2002)
   PUBMED   12036304
REFERENCE   10 (bases 1 to 2585)
  AUTHORS   Patterson,C.E., Schaub,T., Coleman,E.J. and Davis,E.C.
  TITLE     Developmental regulation of FKBP65. An ER-localized extracellular
            matrix binding-protein
  JOURNAL   Mol Biol Cell 11 (11), 3925-3935 (2000)
   PUBMED   11071917
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK092708.1, AF337909.1 and
            AL832985.1.
            
            On Aug 31, 2019 this sequence version replaced NM_021939.3.
            
            Summary: The protein encoded by this gene belongs to the FKBP-type
            peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein
            localizes to the endoplasmic reticulum and acts as a molecular
            chaperone. Alternatively spliced variants encoding different
            isoforms have been reported, but their biological validity has not
            been determined.[provided by RefSeq, Nov 2009].
            
            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 :: AL832985.1, BC016467.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321562.9/ ENSP00000317232.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AK092708.1         295-325
            32-1780             AF337909.1         1-1749
            1781-2585           AL832985.1         1817-2621
FEATURES             Location/Qualifiers
     source          1..2585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2585
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /note="FKBP prolyl isomerase 10"
                     /db_xref="GeneID:60681"
                     /db_xref="HGNC:HGNC:18169"
                     /db_xref="MIM:607063"
     exon            1..276
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1780
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /EC_number="5.2.1.8"
                     /note="rotamase; immunophilin FKBP65; FK506 binding
                     protein 10, 65 kDa; peptidyl-prolyl cis-trans isomerase
                     FKBP10; FKBP-10; FKBP-65; osteognesis imperfecta with
                     congenital joint contractures; Telopeptide lysyl
                     hydroxylase, bone-specific; 65 kDa FKBP; PPIase FKBP10; 65
                     kDa FK506-binding protein; FK506-binding protein 10"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase FKBP10
                     precursor"
                     /protein_id="NP_068758.3"
                     /db_xref="CCDS:CCDS11409.1"
                     /db_xref="GeneID:60681"
                     /db_xref="HGNC:HGNC:18169"
                     /db_xref="MIM:607063"
                     /translation="MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDV
                     VIERYHIPRACPREVQMGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGM
                     DRGLMGMCVNERRRLIVPPHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVST
                     LLRPPHCPRMVQDGDFVRYHYNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGL
                     LGMCPGERRKIIIPPFLAYGEKGYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELP
                     PGCVRRAGAGDFMRYHYNGSLMDGTLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGAC
                     MGERRRITIPPHLAYGENGTGDKIPGSAVLIFNVHVIDFHNPADVVEIRTLSRPSETC
                     NETTKLGDFVRYHYNCSLLDGTQLFTSHDYGAPQEATLGANKVIEGLDTGLQGMCVGE
                     RRQLIVPPHLAHGESGARGVPGSAVLLFEVELVSREDGLPTGYLFVWHKDPPANLFED
                     MDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPGQDPEKTIGDMFQNQDRNQDGKITVDE
                     LKLKSDEDEERVHEEL"
     exon            277..422
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            423..612
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            613..758
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..948
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1094
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1287
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1430
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1594
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..2585
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2568..2573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /note="hexamer: AATAAA"
     polyA_site      2585
                     /gene="FKBP10"
                     /gene_synonym="BRKS; BRKS1; FKBP65; hFKBP65; OI11; OI6;
                     PPIASE; TLH1"
                     /note="major polyA site"
ORIGIN      
        1 ctcactgccg gcggtcccaa ctccaggcac catgttcccc gcgggccccc ccagccacag
       61 cctcctccgg ctccccctgc tgcagttgct gctactggtg gtgcaggccg tggggagggg
      121 gctgggccgc gccagcccgg ccgggggccc cctggaagat gtggtcatcg agaggtacca
      181 catccccagg gcctgtcccc gggaagtgca gatgggggat tttgtgcgct accactacaa
      241 cggcactttt gaagatggca agaagtttga ttcaagctat gatcgcaaca ccttggtggc
      301 catcgtggtg ggtgtggggc gcctcatcac tggcatggac cgaggcctca tgggcatgtg
      361 tgtcaacgag cggcgacgcc tcattgtgcc tccccacctg ggctatggga gcatcggcct
      421 ggcggggctc attccaccgg atgccaccct ctacttcgat gtggttctgc tggatgtgtg
      481 gaacaaggaa gacaccgtgc aggtgagcac attgctgcgc ccgccccact gcccccgcat
      541 ggtccaggac ggcgactttg tccgctacca ctacaatggc accctgctgg acggcacctc
      601 cttcgacacc agctacagta agggcggcac ttatgacacc tacgtcggct ctggttggct
      661 gatcaagggc atggaccagg ggctgctggg catgtgtcct ggagagagaa ggaagattat
      721 catccctcca ttcctggcct atggcgagaa aggctatggg acagtgatcc ccccacaggc
      781 ctcgctggtc tttcacgtcc tcctgattga cgtgcacaac ccgaaggacg ctgtccagct
      841 agagacgctg gagctccccc ccggctgtgt ccgcagagcc ggggccgggg acttcatgcg
      901 ctaccactac aatggctcct tgatggacgg caccctcttc gattccagct actcccgcaa
      961 ccacacctac aatacctata tcgggcaggg ttacatcatc cccgggatgg accaggggct
     1021 gcagggtgcc tgcatggggg aacgccggag aattaccatc cccccgcacc tcgcctatgg
     1081 ggagaatgga actggagaca agatccctgg ctctgccgtg ctaatcttca acgtccatgt
     1141 cattgacttc cacaaccctg cggatgtggt ggaaatcagg acactgtccc ggccatctga
     1201 gacctgcaat gagaccacca agcttgggga ctttgttcga taccattaca actgttcttt
     1261 gctggacggc acccagctgt tcacctcgca tgactacggg gccccccagg aggcgactct
     1321 cggggccaac aaggtgatcg aaggcctgga cacgggcctg cagggcatgt gtgtgggaga
     1381 gaggcggcag ctcatcgtgc ccccgcacct ggcccacggg gagagtggag cccggggagt
     1441 cccaggcagt gctgtgctgc tgtttgaggt ggagctggtg tcccgggagg atgggctgcc
     1501 cacaggctac ctgtttgtgt ggcacaagga ccctcctgcc aacctgtttg aagacatgga
     1561 cctcaacaag gatggcgagg tccctccgga ggagttctcc accttcatca aggctcaagt
     1621 gagtgagggc aaaggacgcc tcatgcctgg gcaggaccct gagaaaacca taggagacat
     1681 gttccagaac caggaccgca accaggacgg caagatcaca gtcgacgagc tcaagctgaa
     1741 gtcagatgag gacgaggagc gggtccacga ggagctctga ggggcaggga gcctggccag
     1801 gcctgagaca cagaggccca ctgcgagggg gacagtggcg gtgggactga cctgctgaca
     1861 gtcaccctcc ctctgctggg atgaggtcca ggagccaact aaaacaatgg cagaggagac
     1921 atctctggtg ttcccaccac cctagatgaa aatccacagc acagacctct accgtgtttc
     1981 tcttccatcc ctaaaccact tccttaaaat gtttggattt gcaaagccaa tttggggcct
     2041 gtggagcctg gggttggata gggccatggc tggtccccca ccatacctcc cctccacatc
     2101 actgacacag ctgagcttgt tatccatctc cccaaacttt ctctttcttt gtacttcttg
     2161 tcatccccac tcccagcccc ttttcctcta tgtgacagct ccctaggacc cctctgcctt
     2221 cctccccaat cctgactggc tcctagggaa ggggaaggct cctggagggc agccctacct
     2281 ctcccatgcc ctttgccctc ctccctcgcc tccagtggag gctgagctga ccctgggctg
     2341 ctggaggcca gactgggctg tagttagctt ttcatcccta aagaaggctc ctttccctaa
     2401 ggaaccatag aagagaggaa gaaaacaaag ggcatgtgtg agggaagctg cttgggtggg
     2461 tgttagggct atgaaatctt ggatttgggg ctgaggggtg ggagggaggg cagagctctg
     2521 cacactcaaa ggctaaactg gtgtcagtcc ttttttcctt tgttccaaat aaaagattaa
     2581 accaa
//
