LOCUS       NM_006262               1800 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens peripherin (PRPH), mRNA.
ACCESSION   NM_006262
VERSION     NM_006262.4
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 1800)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 1800)
  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   3  (bases 1 to 1800)
  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   4  (bases 1 to 1800)
  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   5  (bases 1 to 1800)
  AUTHORS   Bjornsdottir,G., Ivarsdottir,E.V., Bjarnadottir,K.,
            Benonisdottir,S., Gylfadottir,S.S., Arnadottir,G.A.,
            Benediktsson,R., Halldorsson,G.H., Helgadottir,A., Jonasdottir,A.,
            Jonasdottir,A., Jonsdottir,I., Kristinsdottir,A.M., Magnusson,O.T.,
            Masson,G., Melsted,P., Rafnar,T., Sigurdsson,A., Sigurdsson,G.,
            Skuladottir,A., Steinthorsdottir,V., Styrkarsdottir,U.,
            Thorgeirsson,G., Thorleifsson,G., Vikingsson,A., Gudbjartsson,D.F.,
            Holm,H., Stefansson,H., Thorsteinsdottir,U., Norddahl,G.L.,
            Sulem,P., Thorgeirsson,T.E. and Stefansson,K.
  TITLE     A PRPH splice-donor variant associates with reduced sural nerve
            amplitude and risk of peripheral neuropathy
  JOURNAL   Nat Commun 10 (1), 1777 (2019)
   PUBMED   30992453
  REMARK    GeneRIF: Genome-wide association study of sural nerve conduction
            amplitude and velocity in 7045 Icelanders and find a low-frequency
            splice-donor variant in PRPH associated with reduced amplitude of
            the sural nerve action potential, but not with sural nerve
            conduction velocity.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1800)
  AUTHORS   Ferrari,N., Desmarais,D. and Royal,A.
  TITLE     Transcriptional activation of the neuronal peripherin-encoding gene
            depends on a G + C-rich element that binds Sp1 in vitro and in vivo
  JOURNAL   Gene 159 (2), 159-165 (1995)
   PUBMED   7622044
REFERENCE   7  (bases 1 to 1800)
  AUTHORS   Foley,J., Ley,C.A. and Parysek,L.M.
  TITLE     The structure of the human peripherin gene (PRPH) and
            identification of potential regulatory elements
  JOURNAL   Genomics 22 (2), 456-461 (1994)
   PUBMED   7806235
REFERENCE   8  (bases 1 to 1800)
  AUTHORS   Despres,G., Leger,G.P., Dahl,D. and Romand,R.
  TITLE     Distribution of cytoskeletal proteins (neurofilaments, peripherin
            and MAP-tau) in the cochlea of the human fetus
  JOURNAL   Acta Otolaryngol 114 (4), 377-381 (1994)
   PUBMED   7976309
REFERENCE   9  (bases 1 to 1800)
  AUTHORS   Moncla,A., Landon,F., Mattei,M.G. and Portier,M.M.
  TITLE     Chromosomal localisation of the mouse and human peripherin genes
  JOURNAL   Genet Res 59 (2), 125-129 (1992)
   PUBMED   1378416
REFERENCE   10 (bases 1 to 1800)
  AUTHORS   Djabali,K., Portier,M.M., Gros,F., Blobel,G. and Georgatos,S.D.
  TITLE     Network antibodies identify nuclear lamin B as a physiological
            attachment site for peripherin intermediate filaments
  JOURNAL   Cell 64 (1), 109-121 (1991)
   PUBMED   1986862
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK125587.1 and BC032703.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006262.3.
            
            Summary: This gene encodes a cytoskeletal protein found in neurons
            of the peripheral nervous system. The encoded protein is a type III
            intermediate filament protein with homology to other cytoskeletal
            proteins such as desmin, and is a different protein that the
            peripherin found in photoreceptors. Mutations in this gene have
            been associated with susceptibility to amyotrophic lateral
            sclerosis. [provided by RefSeq, Jul 2008].
            
            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 :: BC032703.1, AK125587.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257860.9/ ENSP00000257860.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AK125587.1         1446-1464
            20-1800             BC032703.1         1-1781
FEATURES             Location/Qualifiers
     source          1..1800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..1800
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /note="peripherin"
                     /db_xref="GeneID:5630"
                     /db_xref="HGNC:HGNC:9461"
                     /db_xref="MIM:170710"
     exon            1..599
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1467
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /note="neurofilament 4 (57kD)"
                     /codon_start=1
                     /product="peripherin"
                     /protein_id="NP_006253.2"
                     /db_xref="CCDS:CCDS8783.1"
                     /db_xref="GeneID:5630"
                     /db_xref="HGNC:HGNC:9461"
                     /db_xref="MIM:170710"
                     /translation="MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSR
                     LLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQ
                     ELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGR
                     ERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKI
                     ESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIA
                     AKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNE
                     ALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIE
                     IATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEV
                     VTESQKEQRSELDKSSAHSY"
     exon            600..660
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..756
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            757..924
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1050
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1271
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1321
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1401
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1800
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1778..1783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /note="hexamer: AATAAA"
     polyA_site      1800
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /note="major polyA site"
ORIGIN      
        1 cttcccagcc cccggcctag ctctgcgaac ggtgactgcc catccttggc cgcaatgagc
       61 caccacccgt cgggcctccg ggccggcttc agctccacct cataccgccg taccttcggt
      121 ccaccgccct cactatcccc cggggccttc tcctactcgt ccagctcccg cttctccagc
      181 agccgcctgc tgggctccgc gtccccgagc tcctcggtgc gcctgggcag cttccgtagc
      241 ccccgagcgg gagcgggcgc cctcctgcgc ctgccctcgg agcgcctcga cttctccatg
      301 gccgaggccc tcaaccagga gttcctggcc acgcgcagca acgagaagca ggagctgcag
      361 gagctcaacg accgcttcgc caacttcatc gagaaggtac gctttctgga gcagcagaac
      421 gcggccctgc gcggggagct gagccaagcc cggggccagg agccggcgcg cgccgaccag
      481 ctgtgccagc aggagctgcg cgagctgcgg cgagagctgg agctgttggg ccgcgagcgt
      541 gaccgggtgc aggtggagcg cgacgggctg gcggaggacc tggcggcgct caagcagagg
      601 ttggaggagg agacgcgcaa gcgggaggac gcggagcaca acctcgtgct cttccgcaag
      661 gacgtggacg atgccactct gtcccgcctg gaactagagc gcaagattga gtctctgatg
      721 gatgagattg agttcctcaa gaagctgcac gaggaggagc tgcgagacct gcaggtgagt
      781 gtggagagcc agcaggtgca gcaggtggag gtggaagcca cggtgaagcc cgagctgacg
      841 gcagcgctga gggacatccg cgcgcagtac gagagcatcg ccgcgaagaa cctgcaggag
      901 gcggaggagt ggtacaagtc caagtacgcg gacctgtccg acgctgccaa ccggaaccac
      961 gaggccctgc gccaggccaa gcaggagatg aacgagtccc gacgccagat ccagagtcta
     1021 acgtgcgagg tggacgggct gcgcggcacg aacgaggcgc tgctcaggca gttgagagag
     1081 ctggaggagc agttcgccct ggaggcgggg ggctaccagg cgggcgctgc gcggctcgag
     1141 gaggagctgc gacagctaaa agaggagatg gcgcggcacc tgagggagta ccaggagctc
     1201 ctcaacgtca agatggccct ggacatcgag atcgccacct accgcaagct gctggagggc
     1261 gaggagagcc ggatctccgt gcccgtccat tcttttgcct ccttaaatat aaagacgact
     1321 gtgcctgagg tggagcctcc ccaggacagc cacagccgga agacggttct gatcaagacc
     1381 attgagaccc ggaatgggga ggtggtgaca gagtcccaga aggagcagcg cagtgagctg
     1441 gacaagtctt ctgcccacag ttactgaacc ccttggtccg gagccttgac tctgccctag
     1501 gcctgctcaa agcccaaacc ctaagaccac tcctgaattg tctcctctcc ctctgcatgt
     1561 gtctaaaagg tggtaccagg catccctttc ctggcttatg gccaagccct acccggccag
     1621 cagtcgctgg gcctctccct gccctgacac ttgatgtgac ctatgtgctt cccttttcat
     1681 gtcccgataa gaagccaatg atcccccctc aggacaaatc tactccagcc acgatgagaa
     1741 gtgggtgagc cagggtctga gtttcacatt tgaaccaaat aaaatgctgt caagagaaaa
//
