LOCUS       NM_181882               4867 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens periaxin (PRX), transcript variant 2, mRNA.
ACCESSION   NM_181882
VERSION     NM_181882.3
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 4867)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 4867)
  AUTHORS   Yuan,L., Yi,J., Lin,Q., Xu,H., Deng,X., Xiong,W., Xiao,J.,
            Jiang,C., Yuan,X., Chen,Y. and Deng,H.
  TITLE     Identification of a PRX variant in a Chinese family with congenital
            cataract by exome sequencing
  JOURNAL   QJM 109 (11), 731-735 (2016)
   PUBMED   27081207
  REMARK    GeneRIF: The study identified a variant of periaxin in a Chinese
            family with congenital cataract by exome sequencing.
REFERENCE   3  (bases 1 to 4867)
  AUTHORS   Yang,Y., Ren,Y. and Shi,Y.
  TITLE     Intermolecular disulfide bond in the dimerization of S-periaxin
            mediated by Cys88 and Cys139
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 48 (4), 326-333 (2016)
   PUBMED   26940996
  REMARK    GeneRIF: results offer a possible mechanism to the formation of
            periaxin complexes, improvement of complex stability, and
            establishment of a link between the extracellular matrix and the
            cytoskeleton
REFERENCE   4  (bases 1 to 4867)
  AUTHORS   Williams,H.J., Hurst,J.R., Ocaka,L., James,C., Pao,C., Chanudet,E.,
            Lescai,F., Stanescu,H.C., Kleta,R., Rosser,E., Bacchelli,C. and
            Beales,P.
  CONSRTM   GOSgene
  TITLE     The use of whole-exome sequencing to disentangle complex phenotypes
  JOURNAL   Eur J Hum Genet 24 (2), 298-301 (2016)
   PUBMED   26059842
  REMARK    GeneRIF: we were able to simplify this complex phenotype and
            identified a causative mutation (p.R1070*) in the gene periaxin
            (PRX), a gene previously shown to cause peripheral neuropathy
            (Dejerine-Sottas syndrome) when this mutation is present
REFERENCE   5  (bases 1 to 4867)
  AUTHORS   Delague,V., Bareil,C., Tuffery,S., Bouvagnet,P., Chouery,E.,
            Koussa,S., Maisonobe,T., Loiselet,J., Megarbane,A. and Claustres,M.
  TITLE     Mapping of a new locus for autosomal recessive demyelinating
            Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large
            consanguineous Lebanese family: exclusion of MAG as a candidate
            gene
  JOURNAL   Am J Hum Genet 67 (1), 236-243 (2000)
   PUBMED   10848494
REFERENCE   6  (bases 1 to 4867)
  AUTHORS   Gillespie,C.S., Sherman,D.L., Fleetwood-Walker,S.M., Cottrell,D.F.,
            Tait,S., Garry,E.M., Wallace,V.C., Ure,J., Griffiths,I.R., Smith,A.
            and Brophy,P.J.
  TITLE     Peripheral demyelination and neuropathic pain behavior in
            periaxin-deficient mice
  JOURNAL   Neuron 26 (2), 523-531 (2000)
   PUBMED   10839370
REFERENCE   7  (bases 1 to 4867)
  AUTHORS   Sherman,D.L. and Brophy,P.J.
  TITLE     A tripartite nuclear localization signal in the PDZ-domain protein
            L-periaxin
  JOURNAL   J Biol Chem 275 (7), 4537-4540 (2000)
   PUBMED   10671475
REFERENCE   8  (bases 1 to 4867)
  AUTHORS   Gillespie,C.S., Lee,M., Fantes,J.F. and Brophy,P.J.
  TITLE     The gene encoding the Schwann cell protein periaxin localizes on
            mouse chromosome 7 (Prx)
  JOURNAL   Genomics 41 (2), 297-298 (1997)
   PUBMED   9143514
REFERENCE   9  (bases 1 to 4867)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   10 (bases 1 to 4867)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010271.8, AF321192.1 and
            AB046840.1.
            
            On Aug 31, 2019 this sequence version replaced NM_181882.2.
            
            Summary: This gene encodes a protein involved in peripheral nerve
            myelin upkeep. The encoded protein contains 2 PDZ domains which
            were named after PSD95 (post synaptic density protein), DlgA
            (Drosophila disc large tumor suppressor), and ZO1 (a mammalian
            tight junction protein). Two alternatively spliced transcript
            variants have been described for this gene which encode different
            protein isoforms and which are targeted differently in the Schwann
            cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy,
            type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant:.
            
            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 :: BC067266.1, AF321191.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324001.8/ ENSP00000326018.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC010271.8         108738-108751       c
            15-664              AF321192.1         1-650
            665-3676            AF321192.1         1300-4311
            3677-4867           AB046840.1         3598-4788
FEATURES             Location/Qualifiers
     source          1..4867
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..4867
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /note="periaxin"
                     /db_xref="GeneID:57716"
                     /db_xref="HGNC:HGNC:13797"
                     /db_xref="MIM:605725"
     exon            1..41
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     exon            42..85
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     exon            86..184
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     exon            185..310
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..4669
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="periaxin isoform 2"
                     /protein_id="NP_870998.2"
                     /db_xref="CCDS:CCDS33028.1"
                     /db_xref="GeneID:57716"
                     /db_xref="HGNC:HGNC:13797"
                     /db_xref="MIM:605725"
                     /translation="MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFV
                     RELREDSPAARSLSLQEGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPT
                     GDLALRPGTVSGYEIKGPRAKVAKLNIQSLSPVKKKKMVPGALGVPADLAPVDVEFSF
                     PKFSRLRRGLKAEAVKGPVPAAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAK
                     VEAEVAAGARFTAPQVELVGPRLPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLG
                     APAPPAVEAPAVGIQVPQVELPALPSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVG
                     VDLALPGAEVEARGEAPEVALKMPRLSFPRFGARAKEVAEAKVAKVSPEARVKGPRLR
                     MPTFGLSLLEPRPAAPEVVESKLKLPTIKMPSLGIGVSGPEVKVPKGPEVKLPKAPEV
                     KLPKVPEAALPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVELPKVSEMKLPKVP
                     EMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPEVRLPEVQLPKVSEMKLPEVSEVAVPE
                     VRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKLPEVQLPKVPEMAVPDVHLPEVQLP
                     KVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLPKVPEMKLPKMPEMAVPEVRLPE
                     VQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVPDMKLPEIKLPKVPEMAVPDV
                     HLPEVQLPKVSEIRLPEMQVPKVPDVHLPKAPEVKLPRAPEVQLKATKAEQAEGMEFG
                     FKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPEVDGEAHVGVPSLTLPS
                     VELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPSVEIVTPQLPAVEIE
                     EGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVSKFAISLPKARVG
                     AEAEAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPRFALPKFGVRG
                     RDTEAAELVPGVAELEGKGWGWDGRVKMPKLKMPSFGLARGKEAEVQGDRASPGEKAE
                     STAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSGLKVSTAGQVVTEGHDAGLRMP
                     PLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVAGGEL
                     LVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEGAE
                     EQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGA
                     EEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRL
                     PRVGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVR
                     LPSVGFSETGAPGPARMEGAQAAAV"
     exon            311..467
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     exon            468..664
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     exon            665..4867
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4848..4853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /note="hexamer: AATAAA"
     polyA_site      4867
                     /gene="PRX"
                     /gene_synonym="CMT4F"
                     /note="major polyA site"
ORIGIN      
        1 agacgggacc aggagctctc gaggtgtctg gaggctcagc gagcgccgga cccaggaggc
       61 ccaaggagct ggaggtgacc ctcaggcagc aagaacccca cggaagggcg tgagccctgc
      121 agacagctgt gcggcacctc gggctgggct cctgttagga ggaagtgcct gcacccaggc
      181 agcggctcag aggcagctgc tccatgcaga actgaagctg gttctgcagc agaaagggga
      241 gaggacacag gagcctgggg tgcaggtgcc tcccagcaac gccatggagg ccaggagccg
      301 gagtgccgag gagctgaggc gggcggagtt ggtggaaatt atcgtggaga cggaggcgca
      361 gaccggggtc agcggcatca acgtagcggg cggcggcaaa gagggaatct tcgttcggga
      421 gctgcgcgag gactcacccg ccgccaggag cctcagcctg caggaagggg accagctgct
      481 gagtgcccga gtgttcttcg agaacttcaa gtacgaggac gcactacgcc tgctgcaatg
      541 cgccgagcct tacaaagtct ccttctgcct gaagcgcact gtgcccaccg gggacctggc
      601 tctgcggccc gggaccgtgt ctggctacga gatcaagggc ccgcgggcca aggtggccaa
      661 gctgaacatc cagagtctgt cccctgtgaa gaagaagaag atggtgcctg gggctctggg
      721 ggtccccgct gacctggccc ctgttgacgt cgagttctcc tttcccaagt tctcccgcct
      781 gcgtcggggc ctcaaagccg aggctgtcaa gggtcctgtc ccggctgccc ctgcccgccg
      841 gcgcctccag ctgcctcggc tgcgtgtacg agaagtggcc gaagaggctc aggcagcccg
      901 gctggccgcc gccgctcctc cccccaggaa agccaaggtg gaggctgagg tggctgcagg
      961 agctcgtttc acagcccctc aggtggagct ggttgggccg cggctgccag gggcggaggt
     1021 gggtgtcccc caggtctcag cccccaaggc tgccccctca gcagaggcag ctggtggctt
     1081 tgccctccac ctgccaaccc ttgggctcgg agccccggct ccgcctgctg tggaggcccc
     1141 agccgtggga atccaggtcc cccaggtgga gctgcctgcc ttgccctcac tgcccactct
     1201 gcccacactt ccctgcctag agacccggga aggggctgtg tcggtagtgg tgcccaccct
     1261 ggatgtggca gcaccgactg tgggggtgga cctggccttg ccgggtgcag aggtggaggc
     1321 ccggggagag gcacctgagg tggccctgaa gatgccccgc cttagttttc cccgatttgg
     1381 ggctcgagca aaggaagttg ctgaggccaa ggtagccaag gtcagccctg aggccagggt
     1441 gaaaggtccc agacttcgaa tgcccacctt tgggctttcc ctcttggagc cccggcccgc
     1501 tgctcctgaa gttgtagaga gcaagctgaa gctgcccacc atcaagatgc cctcccttgg
     1561 catcggagtg tcagggcccg aggtcaaggt gcccaaggga cctgaagtga agctccccaa
     1621 ggctcctgag gtcaagcttc caaaagtgcc cgaggcagcc cttccagagg ttcgactccc
     1681 agaggtggag ctccccaagg tgtcagagat gaaactccca aaggtgccag agatggctgt
     1741 gccggaggtg cggcttccag aggtagagct gcccaaagtg tcagagatga aactcccaaa
     1801 ggtgccagag atggctgtgc cggaggtgcg gcttccagag gtacagctgc tgaaagtgtc
     1861 ggagatgaaa ctcccaaagg tgccagagat ggctgtgccg gaggtgcggc ttccagaggt
     1921 acagctgccg aaagtgtcag agatgaaact cccagaggtg tcagaggtgg ctgtgccaga
     1981 ggtgcggctt ccagaggtgc agctgccgaa agtgccagag atgaaagtcc ctgagatgaa
     2041 gcttccaaag gtgcctgaga tgaaacttcc tgagatgaaa ctccctgaag tgcaactccc
     2101 gaaggtgccc gagatggccg tgcccgatgt gcacctccca gaagtgcagc ttccaaaagt
     2161 cccagagatg aagctccctg agatgaaact ccctgaggtg aaactcccga aggtgcccga
     2221 gatggctgtg cccgatgtgc acctcccgga agtgcagctc ccgaaagtcc cagagatgaa
     2281 actccctaaa atgcctgaga tggctgtgcc agaggttcga ctccccgagg tgcagctgcc
     2341 aaaagtctca gagatgaaac tccccaaggt gcctgaaatg gccgtgcccg atgtgcacct
     2401 cccagaggtg cagctgccca aagtctgtga aatgaaagtc cctgacatga agctcccaga
     2461 gataaaactc cccaaggtgc ctgagatggc tgtgcccgat gtgcacctcc ccgaggtgca
     2521 gctgccgaaa gtgtcagaga ttcggctgcc ggaaatgcaa gtgccgaagg ttcccgacgt
     2581 gcatcttccg aaggcaccag aggtgaagct gcccagggct ccggaggtgc agctaaaggc
     2641 caccaaggca gaacaggcag aagggatgga atttggcttc aagatgccca agatgaccat
     2701 gcccaagcta gggagggcag agtccccatc acgtggcaag ccaggcgagg cgggtgctga
     2761 ggtctcaggg aagctggtaa cacttccctg tctgcagcca gaggtggatg gtgaggctca
     2821 tgtgggtgtc ccctctctca ctctgccttc agtggagcta gacctgccag gagcacttgg
     2881 cctgcagggg caggtcccag ccgctaaaat gggcaaggga gagcgggtgg agggccctga
     2941 ggtggcagca ggggtcaggg aagtgggctt ccgagtgccc tctgttgaaa ttgtcacccc
     3001 acagctgccc gccgtggaaa ttgaggaagg gcggctggag atgatagaga caaaagtcaa
     3061 gccctcttcc aagttctcct tacctaagtt tggactctcg gggccaaagg tggctaaggc
     3121 agaggctgag ggggctgggc gagctaccaa gctgaaggta tccaaatttg ccatctcact
     3181 ccccaaggct cgggtggggg ctgaggctga ggccaaaggg gctggggagg caggcctgct
     3241 gcctgccctc gatctgtcca tcccacagct cagcctggat gcccacctgc cctcaggcaa
     3301 ggtagaggtg gcaggggccg acctcaagtt caaggggccc aggtttgctc tccccaagtt
     3361 tggggtcaga ggccgggaca ctgaggcagc agaactagtg ccaggggtgg ctgagttgga
     3421 gggcaagggc tggggctggg atgggagggt gaagatgccc aagctgaaga tgccttcctt
     3481 tgggctggct cgagggaagg aagcagaagt tcaaggtgat cgtgccagcc cgggggaaaa
     3541 ggctgagtcc accgctgtgc agcttaagat ccccgaggtg gagctggtca cgctgggcgc
     3601 ccaggaggaa gggagggcag agggggctgt ggccgtcagt ggaatgcagc tgtcaggcct
     3661 gaaggtgtcc acagccgggc aggtggtcac tgagggccat gacgcggggc tgaggatgcc
     3721 tccgctgggc atctccctgc cacaggtgga gctgaccggc tttggggagg caggtacccc
     3781 agggcagcag gctcagagta cagtcccttc agcagagggc acagcaggct acagggttca
     3841 ggtgccccag gtgaccctgt ctctgcctgg agcccaggtt gcaggtggtg agctgctggt
     3901 gggtgagggt gtctttaaga tgcccaccgt gacagtgccc cagcttgagc tggacgtggg
     3961 gctaagccga gaggcacagg cgggcgaggc ggccacaggc gagggtgggc tgaggctgaa
     4021 gttgcccaca ctgggggcca gagctagggt ggggggcgag ggtgctgagg agcagccccc
     4081 aggggccgag cgtaccttct gcctctcact gcccgacgtg gagctctcgc catccggggg
     4141 caaccatgcc gagtaccagg tggcagaggg ggagggagag gccggacaca agctcaaggt
     4201 acggctgccc cggtttggcc tggtgcgggc caaggagggg gccgaggagg gtgagaaggc
     4261 caagagcccc aaactcaggc tgccccgagt gggcttcagc caaagtgaga tggtcactgg
     4321 ggaagggtcc cccagccccg aggaggagga ggaggaggag gaagagggca gtggggaagg
     4381 ggcctcgggt cgccggggcc gggtccgggt ccgcttgcca cgtgtaggcc tggcggcccc
     4441 ttctaaagcc tctcgggggc aggagggcga tgcagccccc aagtcccccg tcagagagaa
     4501 gtcacccaag ttccgcttcc ccagggtgtc cctaagcccc aaggcccgga gtgggagtgg
     4561 ggaccaggaa gagggtggat tgcgggtgcg gctgcccagc gtggggtttt cagagacagg
     4621 ggctccaggc ccggccagga tggagggggc tcaggctgcg gctgtctgaa gcccctagtc
     4681 agatggggat cccttcttgc cttcctttct ctaccccctc gctgttgtgt gtgtgataac
     4741 tagcactaac cctaagaggg ccgggaggtg ggtgactgac cagggctggc agggaggcct
     4801 gctcctgtct ctctggcagg agtgcctgta ccccaccaag ccatgtgaat aaaataatct
     4861 ggaagta
//
