LOCUS       NP_006253                470 aa            linear   PRI 28-APR-2025
DEFINITION  peripherin [Homo sapiens].
ACCESSION   NP_006253
VERSION     NP_006253.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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  (residues 1 to 470)
  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 (residues 1 to 470)
  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 May 30, 2002 this sequence version replaced NP_006253.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..470
                     /product="peripherin"
                     /note="neurofilament 4 (57kD)"
                     /calculated_mol_wt=53520
     Region          1..99
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          13..95
                     /region_name="Filament_head"
                     /note="Intermediate filament head (DNA binding) region;
                     pfam04732"
                     /db_xref="CDD:461414"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21807; propagated from
                     UniProtKB/Swiss-Prot (P41219.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21807; propagated from
                     UniProtKB/Swiss-Prot (P41219.2)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15331; propagated from
                     UniProtKB/Swiss-Prot (P41219.2)"
     Region          96..406
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:459643"
     Region          100..132
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          133..143
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          144..239
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          240..262
                     /region_name="Linker 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          263..405
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          406..470
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Region          447..470
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P41219.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P21807; propagated from
                     UniProtKB/Swiss-Prot (P41219.2)"
     CDS             1..470
                     /gene="PRPH"
                     /gene_synonym="NEF4; PRPH1"
                     /coded_by="NM_006262.4:55..1467"
                     /db_xref="CCDS:CCDS8783.1"
                     /db_xref="GeneID:5630"
                     /db_xref="HGNC:HGNC:9461"
                     /db_xref="MIM:170710"
ORIGIN      
        1 mshhpsglra gfsstsyrrt fgpppslspg afsyssssrf sssrllgsas psssvrlgsf
       61 rspragagal lrlpserldf smaealnqef latrsnekqe lqelndrfan fiekvrfleq
      121 qnaalrgels qargqepara dqlcqqelre lrrelellgr erdrvqverd glaedlaalk
      181 qrleeetrkr edaehnlvlf rkdvddatls rlelerkies lmdeieflkk lheeelrdlq
      241 vsvesqqvqq veveatvkpe ltaalrdira qyesiaaknl qeaeewyksk yadlsdaanr
      301 nhealrqakq emnesrrqiq sltcevdglr gtneallrql releeqfale aggyqagaar
      361 leeelrqlke emarhlreyq ellnvkmald ieiatyrkll egeesrisvp vhsfaslnik
      421 ttvpeveppq dshsrktvli ktietrngev vtesqkeqrs eldkssahsy
//
