LOCUS       NM_017946               4978 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase 14 (FKBP14), transcript variant
            1, mRNA.
ACCESSION   NM_017946
VERSION     NM_017946.4
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 4978)
  AUTHORS   Ishikawa,Y., Bonna,A., Gould,D.B. and Farndale,R.W.
  TITLE     Local Net Charge State of Collagen Triple Helix Is a Determinant of
            FKBP22 Binding to Collagen III
  JOURNAL   Int J Mol Sci 24 (20), 15156 (2023)
   PUBMED   37894834
  REMARK    GeneRIF: Local Net Charge State of Collagen Triple Helix Is a
            Determinant of FKBP22 Binding to Collagen III.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4978)
  AUTHORS   Colman,M., Vroman,R., Dhooge,T., Malfait,Z., Symoens,S.,
            Burnyte,B., Nampoothiri,S., Kariminejad,A., Malfait,F. and Syx,D.
  TITLE     Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants
            in FKBP14: Further insights into the phenotypic spectrum and
            pathogenic mechanisms
  JOURNAL   Hum Mutat 43 (12), 1994-2009 (2022)
   PUBMED   36054293
  REMARK    GeneRIF: Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic
            variants in FKBP14: Further insights into the phenotypic spectrum
            and pathogenic mechanisms.
REFERENCE   3  (bases 1 to 4978)
  AUTHORS   Semyachkina,A.N., Nikolaeva,E.A., Galeeva,N.M., Polyakov,A.V.,
            Kurnikova,M.A., Belova Vcapital,A. Cyrillic, Shulyakova,I.V.,
            Dantsev,I.S. and Dzhivanshiryan,G.V.
  TITLE     Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in
            the FKBP14 gene: an analysis of five cases
  JOURNAL   F1000Res 10, 502 (2021)
   PUBMED   34504686
  REMARK    GeneRIF: Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by
            mutations in the FKBP14 gene: an analysis of five cases.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4978)
  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   5  (bases 1 to 4978)
  AUTHORS   Conti,R., Zanchi,C. and Barbi,E.
  TITLE     A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers
            Danlos syndrome case report
  JOURNAL   Ital J Pediatr 47 (1), 28 (2021)
   PUBMED   33579342
  REMARK    GeneRIF: A floppy infant without lingual frenulum and
            kyphoscoliosis: Ehlers Danlos syndrome case report.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4978)
  AUTHORS   Halatsch,M.E., Low,S., Hielscher,T., Schmidt,U., Unterberg,A. and
            Vougioukas,V.I.
  TITLE     Epidermal growth factor receptor pathway gene expressions and
            biological response of glioblastoma multiforme cell lines to
            erlotinib
  JOURNAL   Anticancer Res 28 (6A), 3725-3728 (2008)
   PUBMED   19189656
REFERENCE   7  (bases 1 to 4978)
  AUTHORS   Zhang,Z. and Henzel,W.J.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   8  (bases 1 to 4978)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 4978)
  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 4978)
  AUTHORS   Giunta,C., Rohrbach,M., Fauth,C. and Baumann,M.
  TITLE     FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31132235
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA166879.1, AK000738.1,
            AC007285.3 and CR748502.1.
            
            On Aug 31, 2019 this sequence version replaced NM_017946.3.
            
            Summary: The protein encoded by this gene is a member of the
            FK506-binding protein family of peptidyl-prolyl cis-trans
            isomerases. The encoded protein is found in the lumen of the
            endoplasmic reticulum, where it is thought to accelerate protein
            folding. Defects in this gene are a cause of a type of
            Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and
            noncoding variants are transcribed from this gene. [provided by
            RefSeq, Mar 2012].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14243140.11029984.1, AK000738.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467148, SAMN03267755
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222803.10/ ENSP00000222803.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                DA166879.1         100-151
            53-2297             AK000738.1         4-2248
            2298-4963           AC007285.3         48955-51620         c
            4964-4978           CR748502.1         448-462
FEATURES             Location/Qualifiers
     source          1..4978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..4978
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /note="FKBP prolyl isomerase 14"
                     /db_xref="GeneID:55033"
                     /db_xref="HGNC:HGNC:18625"
                     /db_xref="MIM:614505"
     exon            1..391
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..830
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /EC_number="5.2.1.8"
                     /note="peptidyl-prolyl cis-trans isomerase FKBP14;
                     FKBP-22; rotamase; 22 kDa FKBP; PPIase FKBP14; 22 kDa
                     FK506-binding protein; FK506 binding protein 14, 22 kDa;
                     FK506-binding protein 14"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase FKBP14
                     precursor"
                     /protein_id="NP_060416.1"
                     /db_xref="CCDS:CCDS5423.1"
                     /db_xref="GeneID:55033"
                     /db_xref="HGNC:HGNC:18625"
                     /db_xref="MIM:614505"
                     /translation="MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKG
                     GDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLGILEALKGWDQGLKGMCVGEKRK
                     LIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
                     KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL"
     exon            392..543
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /inference="alignment:Splign:2.1.0"
     exon            544..671
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /inference="alignment:Splign:2.1.0"
     exon            672..4978
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3297..3302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /note="hexamer: AATGAA"
     polyA_site      3315
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
     regulatory      4956..4961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /note="hexamer: AATAAA"
     polyA_site      4978
                     /gene="FKBP14"
                     /gene_synonym="EDSKMH; EDSKSCL2; FKBP22; IPBP12"
                     /note="major polyA site"
ORIGIN      
        1 gcttaactct ttaaaggtag gttcgtgacc cttgagaaaa gagttggtgg taaatgtgcc
       61 acgtcttcta agaaggggga gtcctgaact tgtctgaagc ccttgtccgt aagccttgaa
      121 ctacgttctt aaatctatga agtcgaggga cctttcgctg cttttgtagg gacttctttc
      181 cttgcttcag caacatgagg cttttcttgt ggaacgcggt cttgactctg ttcgtcactt
      241 ctttgattgg ggctttgatc cctgaaccag aagtgaaaat tgaagttctc cagaagccat
      301 tcatctgcca tcgcaagacc aaaggagggg atttgatgtt ggtccactat gaaggctact
      361 tagaaaagga cggctcctta tttcactcca ctcacaaaca taacaatggt cagcccattt
      421 ggtttaccct gggcatcctg gaggctctca aaggttggga ccagggcttg aaaggaatgt
      481 gtgtaggaga gaagagaaag ctcatcattc ctcctgctct gggctatgga aaagaaggaa
      541 aaggtaaaat tcccccagaa agtacactga tatttaatat tgatctcctg gagattcgaa
      601 atggaccaag atcccatgaa tcattccaag aaatggatct taatgatgac tggaaactct
      661 ctaaagatga ggttaaagca tatttaaaga aggagtttga aaaacatggt gcggtggtga
      721 atgaaagtca tcatgatgct ttggtggagg atatttttga taaagaagat gaagacaaag
      781 atgggtttat atctgccaga gaatttacat ataaacacga tgagttatag agatacatct
      841 acccttttaa tatagcactc atctttcaag agagggcagt catctttaaa gaacatttta
      901 tttttataca atgttctttc ttgctttgtt ttttattttt atatattttt tctgactcct
      961 atttaaagaa ccccttaggt ttctaagtac ccatttcttt ctgataagtt attgggaaga
     1021 aaaagctaat tggtctttga atagaagact tctggacaat ttttcacttt cacagatatg
     1081 aagctttgtt ttactttctc acttataaat ttaaaatgtt gcaactggga atataccacg
     1141 acatgagacc aggttatagc acaaattagc accctatatt tctgcttccc tctattttct
     1201 ccaagttaga ggtcaacatt tgaaaagcct tttgcaatag cccaaggctt gctattttca
     1261 tgttataatg aaatagttta tgtgtaactg gctctgagtc tctgcttgag gaccagagga
     1321 aaatggttgt tggacctgac ttgttaatgg ctactgcttt actaaggaga tgtgcaatgc
     1381 tgaagttaga aacaaggtta atagccaggc atggtggctc atgcctgtaa tcccagcact
     1441 ttgggaggct gaggcgggcg gatcacctga ggttgggagt tcgagaccag cctgaccaac
     1501 acggagaaac cctatctcta ctaaaaatac aaaagtagcc gggcgtggtg atgcgtgcct
     1561 gtaatcccag ctacccagga aggctgaggc ggcagaatca cttgaacccg gaggcggagg
     1621 ttgcggtaag ccgagatcac ctccagcctg gacactctgt ctcgaaaaaa agaaaagaaa
     1681 cacggttaat aacatataaa tatgtatgca ttgagacatg ctacctagga cttaagctga
     1741 tgaagcttgg ctcctagtga ttggtggcct attatgataa ataggacaaa tcatttatgt
     1801 gtgagtttct ttgtaataaa atgtatcaat atgttataga tgaggtagaa agttatattt
     1861 atattcaata tttacttctt aaggctagcg gaatatcctt cctggttctt taatgggtag
     1921 tctatagtat attatactac aataacattg tatcataaga taaagtagta aaccagtcta
     1981 cattttccca tttctgtctc atcaaaaact gaagttagct gggtgtggtg gctcatgcct
     2041 gtaatcccag cactttgggg gccaaggagg gtggatcact tgagatcagg agttcaagac
     2101 cagcctggcc aacatggtga aaccttgtct ctactaaaaa tacaaaaatt agccaggcgt
     2161 ggtggtgcac acctgtagtc ccagctactc gggaggctga gacaggagat ttgcttgaac
     2221 ccgggaggcg gaggttgcag tgagccaaga ttgtgccact gcactccagc ctgggtgaca
     2281 gagcaagact ccatctcaaa aaaaaaaaaa gaagcagacc tacagcagct actattgaat
     2341 aaatacctat cctggatttt aaaaaagaaa aaaatatata taattttatt ttaaattggc
     2401 ttttatcttt aattcttttt tttaaagtta tcaaatcttc attttctaag agtagccctt
     2461 tatagtgtac aaaatgatat taagtgcatt attatcttcg cttttcatgg ctctgagtca
     2521 taaaacaagc tggtggatct cactgtacct aatttataga cgaggaaatt gtcattcaaa
     2581 aagattgact gttatgccca gggtcagcac taacctgcag aaccagtatt cagtccccaa
     2641 gttcagtgtc ttctactgcc ctctactaat gaaaagtgaa aatttccctg gggtctaatt
     2701 ctctcttcag tttgctgtgc cgttgtttat ctttgagtct tcattctctg aagatggctt
     2761 tctgcctgtt tctggtacat tagaattctc actatgatat agaaatggct tcagtttcat
     2821 agcataatct tgcagttagc tctgaattgc ctcaaaaacc ctgaacaacg cgaggttcca
     2881 gatgtgtttt acttctttca ttcatattta cccccatttg ttgtttaaaa agaattatga
     2941 acaattatta catcatatgt agaccacttt cactgattat atgttgacat tttcctcagt
     3001 aaaacataaa gttcttaaca agactatact gtaacacctt tctccaacaa aatcagctgt
     3061 atgttgaaaa ctattaagtc attgctaatg ttttaagcca taatacagac agccttatac
     3121 tctatgatgg gagaagggaa agtagtttgt ccgatggtgc tactctgtat aaacattact
     3181 gatgctatct atagtagggc aagaaaagta aaaagagttt tgattattca ggcagcattt
     3241 ttaaaaacct gtgaatttgt atcagttctc atctaaacat ttggacacaa gtataaaatg
     3301 aaaacatatg cacaagttat ggtttttaag ttatctgctc ttttttttgg tttcactgta
     3361 cctttgtact cttctattag tgggaataat cagacatgaa ctgtgacttc acatgtacag
     3421 tcatacctca cttaatgatg gagatgcact ctgagaaatg tctaattagg ttatttcatc
     3481 gttgtgggaa catcatagag tgtacttaca caaacctaga tagtgtagcc tgctacacat
     3541 gtaggacatg tatatagcct attgctccta ggctacagca tgttgctgtt ctgaatcatg
     3601 taggcaattg taacacaatg gcaagtgtct gtttattcaa acatctaaac acagaaaaga
     3661 tactacaaca ataacaatat ggtataaaag attttgtaaa aaatctggtc aggtgcagtg
     3721 gttcacgcct gtaatcctag cactttggga ggctgcctca gcaggtggat tgcttgagcc
     3781 cagaagctca agaccagcct gggcaacatg gcgaaacccc gtctctgcta aaagtacaaa
     3841 agctgaggtt ggaggatcac ctgagcctgg caaggtcaag gctgcagtga gccatgatca
     3901 taccactgca ctccagcctg ggtgacagag tgactcccca tctaaaaaaa aaaatatata
     3961 tatatatata tactatatat atatatatac catatatatg gtatatatat atatagtata
     4021 tatatatatg gtgtgtgtat atatatatat atggtatacc tgtatagggc acttactaac
     4081 ggagcttaca gaactggaag ttgctctgga tgagtcagtg gtgagtgaat gtaaaggcct
     4141 aggacattac tgtacactac tgtagacttt ataaacaccg tacacttagg tgacactaaa
     4201 atttataaaa aatgtttttc ttctggttgg gcatggtgcc ttatgcctat aatcccagca
     4261 ttatgggagg ccaaggtggg tggatcactc gaggtcatga gtttgggacc agccgggcca
     4321 acatggctaa accccatctc tactaaaaat acgataatta gccaggtgtg gtggcacatg
     4381 cgtgtagtcc cagctaattg agaggctgag gcaggagaat tgcttgaatc caggaggtgg
     4441 aggttgcagt gagccaagat cgaaccactg cactctagtc tgggtgacag aggagcaaga
     4501 ctctgtctca aaaaaaaaaa ttctataatt tttatagaaa taataaaaaa ctaaccttag
     4561 cttactgtaa attttctagt ttagaaactt atttaaaaac aatttttgga ctcttctagt
     4621 aataacgtag cttaaaacac acattgcata gctgtacaaa aatattttcc ttatatcctt
     4681 attatataag cttttatcta tttaaatttt gaatttttaa actttttggt caaaaaccaa
     4741 gacaaacaca ctagcctagg cctatgcagg gtcaggatca agacatccct agcaggtgac
     4801 aggaattttt caactccatt ataatctgtg gggccaccat catatatata ttgtacattg
     4861 accgaaacat ggttacatga ctatataatt tgcgtcaata ctgctcagtg tgccatattt
     4921 aaatttacat gactatattg tgatattctt ttcaaaataa agtttatttg ggagataa
//
