LOCUS       NM_003602               1699 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase family member 6 (inactive)
            (FKBP6), transcript variant 1, mRNA.
ACCESSION   NM_003602
VERSION     NM_003602.5
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 1699)
  AUTHORS   Wyrwoll,M.J., Gaasbeek,C.M., Golubickaite,I., Stakaitis,R.,
            Oud,M.S., Nagirnaja,L., Dion,C., Sindi,E.B., Leitch,H.G.,
            Jayasena,C.N., Sironen,A., Dicke,A.K., Rotte,N., Stallmeyer,B.,
            Kliesch,S., Grangeiro,C.H.P., Araujo,T.F., Lasko,P., D'Hauwers,K.,
            Smits,R.M., Ramos,L., Xavier,M.J., Conrad,D.F., Almstrup,K.,
            Veltman,J.A., Tuttelmann,F. and van der Heijden,G.W.
  CONSRTM   Genetics of Male Infertility Initiative (GEMINI) consortium
  TITLE     The piRNA-pathway factor FKBP6 is essential for spermatogenesis but
            dispensable for control of meiotic LINE-1 expression in humans
  JOURNAL   Am J Hum Genet 109 (10), 1850-1866 (2022)
   PUBMED   36150389
  REMARK    GeneRIF: The piRNA-pathway factor FKBP6 is essential for
            spermatogenesis but dispensable for control of meiotic LINE-1
            expression in humans.
REFERENCE   2  (bases 1 to 1699)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 1699)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1699)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1699)
  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   6  (bases 1 to 1699)
  AUTHORS   Metcalfe,K., Simeonov,E., Beckett,W., Donnai,D. and Tassabehji,M.
  TITLE     Autosomal dominant inheritance of Williams-Beuren syndrome in a
            father and son with haploinsufficiency for FKBP6
  JOURNAL   Clin Dysmorphol 14 (2), 61-65 (2005)
   PUBMED   15770126
REFERENCE   7  (bases 1 to 1699)
  AUTHORS   Crackower,M.A., Kolas,N.K., Noguchi,J., Sarao,R., Kikuchi,K.,
            Kaneko,H., Kobayashi,E., Kawai,Y., Kozieradzki,I., Landers,R.,
            Mo,R., Hui,C.C., Nieves,E., Cohen,P.E., Osborne,L.R., Wada,T.,
            Kunieda,T., Moens,P.B. and Penninger,J.M.
  TITLE     Essential role of Fkbp6 in male fertility and homologous chromosome
            pairing in meiosis
  JOURNAL   Science 300 (5623), 1291-1295 (2003)
   PUBMED   12764197
REFERENCE   8  (bases 1 to 1699)
  AUTHORS   Schiene-Fischer,C. and Yu,C.
  TITLE     Receptor accessory folding helper enzymes: the functional role of
            peptidyl prolyl cis/trans isomerases
  JOURNAL   FEBS Lett 495 (1-2), 1-6 (2001)
   PUBMED   11322937
  REMARK    Review article
REFERENCE   9  (bases 1 to 1699)
  AUTHORS   Peoples,R., Franke,Y., Wang,Y.K., Perez-Jurado,L., Paperna,T.,
            Cisco,M. and Francke,U.
  TITLE     A physical map, including a BAC/PAC clone contig, of the
            Williams-Beuren syndrome--deletion region at 7q11.23
  JOURNAL   Am J Hum Genet 66 (1), 47-68 (2000)
   PUBMED   10631136
REFERENCE   10 (bases 1 to 1699)
  AUTHORS   Meng,X., Lu,X., Morris,C.A. and Keating,M.T.
  TITLE     A novel human gene FKBP6 is deleted in Williams syndrome
  JOURNAL   Genomics 52 (2), 130-137 (1998)
   PUBMED   9782077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211540.4, DB450796.1 and
            BC036817.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003602.4.
            
            Summary: The protein encoded by this gene is a cis-trans
            peptidyl-prolyl isomerase that may function in immunoregulation and
            basic cellular processes involving protein folding and trafficking.
            This gene is located in a chromosomal region that is deleted in
            Williams-Beuren syndrome. Defects in this gene may cause male
            infertility. There are multiple pseudogenes for this gene located
            nearby on chromosome 7. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR5189667.310015.1,
                                           SRR5189667.38674.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252037.5/ ENSP00000252037.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AC211540.4         122424-122494
            72-199              DB450796.1         1-128
            200-861             BC036817.1         1-662
            862-862             AC211540.4         134906-134906
            863-1699            BC036817.1         664-1500
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1699
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /note="FKBP prolyl isomerase family member 6 (inactive)"
                     /db_xref="GeneID:8468"
                     /db_xref="HGNC:HGNC:3722"
                     /db_xref="MIM:604839"
     exon            1..325
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..1252
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /EC_number="5.2.1.8"
                     /note="isoform a is encoded by transcript variant 1;
                     rotamase; immunophilin FKBP36; peptidyl-prolyl cis-trans
                     isomerase FKBP6; 36 kDa FKBP; PPIase FKBP6; inactive
                     PPIase FKBP6; inactive peptidyl-prolyl cis-trans isomerase
                     FKBP6; FK506 binding protein 6, 36kDa; FK506-binding
                     protein 6; FKBP prolyl isomerase 6"
                     /codon_start=1
                     /product="inactive peptidyl-prolyl cis-trans isomerase
                     FKBP6 isoform a"
                     /protein_id="NP_003593.3"
                     /db_xref="CCDS:CCDS43595.1"
                     /db_xref="GeneID:8468"
                     /db_xref="HGNC:HGNC:3722"
                     /db_xref="MIM:604839"
                     /translation="MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIR
                     EGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSM
                     RRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQD
                     QFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAK
                     LPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFL
                     VRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES"
     exon            326..443
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            444..533
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            534..736
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            737..856
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1051
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1161
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1254
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1699
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1674..1679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /note="hexamer: AATAAA"
     polyA_site      1699
                     /gene="FKBP6"
                     /gene_synonym="FKBP36; SPGF77"
                     /note="major polyA site"
ORIGIN      
        1 atcatgtttc gtgcgctccc attacggatc atacctcgca cctcaccgcg tggcctctgt
       61 agttccagag ctcgcgaggg ccagggccgt tggcggcggt tggaacgaaa cgatgagtgc
      121 ctcctcgtgg ccccagaatg gaatgccgcc gtcggtaggg gtctgccggg cataaagggg
      181 ccttcggaac cccaccagag tcacagccag ggagggcagc ggggcgcacc aggccgaagg
      241 ctcacgccac agggagggca gctaggacat ggggggaagc gcgttaaacc agggagtcct
      301 ggaaggggac gacgcccccg gccagtccct gtacgagcgg ttaagtcaga ggatgctgga
      361 catctcgggg gaccggggcg tgctgaagga cgtcatccga gaaggagctg gagacctagt
      421 ggcgcctgat gcttcggtgc tagtgaaata ctcgggatac ctggaacaca tggacagacc
      481 cttcgattct aattacttta ggaaaactcc tcggctaatg aaacttggag aggatattac
      541 actgtggggc atggagctgg gccttctgag catgcggaga ggagagctgg ccaggtttct
      601 gttcaaaccg aactacgcct atggaacgct gggctgccct cccttgatcc ccccaaacac
      661 cactgtcctg tttgagattg agctgcttga cttcctggac tgtgctgagt cagacaagtt
      721 ttgtgctctc tcagctgagc agcaagacca atttccactt cagaaggtcc tgaaagtggc
      781 agctacggaa cgggagtttg gcaactacct tttccgccag aatcgtttct atgatgccaa
      841 agtgagatat aaaagggccc tattgcttct gcgccggcga tcagcacccc ctgaagagca
      901 gcacctggtg gaggccgcca agcttcctgt tctcctgaac ctgtccttta catacctgaa
      961 gctagaccga cccaccatag ccctgtgcta tggagagcag gctttgatca ttgaccaaaa
     1021 gaatgccaag gccctcttca ggtgtggaca ggcttgtctt ctcctgactg agtatcaaaa
     1081 ggcccgggat tttctagttc gagcccagaa ggagcaaccc ttcaatcatg acatcaataa
     1141 tgagctgaag aaactggcta gctgttacag ggactatgtg gataaagaga aagaaatgtg
     1201 gcaccgcatg ttcgcgccct gtggcgatgg ttctacagca ggagaaagtt gaaggttctt
     1261 cacctaccaa cgaggggaga gagctgtggt tctccatcat tgggggagtg gaagggagct
     1321 cccagcgcag ccgtggcagc caccttccag gagcaggggc tggaatgtcc tgtggccgca
     1381 tctctcatgg acgcggctga aacgtgtttt cacaggtgct gttttctgtt ttccgtgttc
     1441 gtaacagaag ggaggggaaa gcgcagctac tgacaagtag aacactgcta ctttttttaa
     1501 ggcagtttct tgttttttta gacggaatta gtccttggct tccctcccag tcccagccct
     1561 gcttccggct gcgaatgtcc ctgagtcaac accaatagag attgctttgt gtattttgta
     1621 gggttctctg ttttgaagac agaattatgt tacaaatgtt tttgttgtaa ataaataaaa
     1681 cacttccttg tccttgcaa
//
