Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P41219

- PERI_HUMAN

UniProt

P41219 - PERI_HUMAN

Protein

Peripherin

Gene

PRPH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (31 Oct 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Class-III neuronal intermediate filament protein.

    GO - Molecular functioni

    1. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. intermediate filament cytoskeleton organization Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peripherin
    Alternative name(s):
    Neurofilament 4
    Gene namesi
    Name:PRPH
    Synonyms:NEF4, PRPH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:9461. PRPH.

    Subcellular locationi

    GO - Cellular componenti

    1. C-fiber Source: Ensembl
    2. intermediate filament Source: ProtInc
    3. membrane Source: UniProtKB
    4. neurofilament Source: Ensembl
    5. photoreceptor outer segment membrane Source: Ensembl
    6. type III intermediate filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti803. Amyotrophic lateral sclerosis.
    PharmGKBiPA33816.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 470470PeripherinPRO_0000063779Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei17 – 171Nitrated tyrosineBy similarity
    Modified residuei379 – 3791Nitrated tyrosineBy similarity
    Modified residuei470 – 4701PhosphotyrosineBy similarity

    Keywords - PTMi

    Nitration, Phosphoprotein

    Proteomic databases

    MaxQBiP41219.
    PaxDbiP41219.
    PRIDEiP41219.

    PTM databases

    PhosphoSiteiP41219.

    Expressioni

    Gene expression databases

    ArrayExpressiP41219.
    BgeeiP41219.
    CleanExiHS_PRPH.
    GenevestigatoriP41219.

    Organism-specific databases

    HPAiCAB002437.

    Interactioni

    Protein-protein interaction databases

    BioGridi111614. 13 interactions.
    IntActiP41219. 5 interactions.
    MINTiMINT-1482695.
    STRINGi9606.ENSP00000257860.

    Structurei

    3D structure databases

    ProteinModelPortaliP41219.
    SMRiP41219. Positions 93-232, 259-402.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 9999HeadAdd
    BLAST
    Regioni100 – 405306RodAdd
    BLAST
    Regioni100 – 13233Coil 1AAdd
    BLAST
    Regioni133 – 14311Linker 1Add
    BLAST
    Regioni144 – 23996Coil 1BAdd
    BLAST
    Regioni240 – 26223Linker 2Add
    BLAST
    Regioni263 – 405143Coil 2Add
    BLAST
    Regioni406 – 47065TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG282699.
    HOGENOMiHOG000230977.
    HOVERGENiHBG013015.
    InParanoidiP41219.
    KOiK07607.
    OMAiVVETFLY.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP41219.
    TreeFamiTF330122.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR027700. PRPH/Plasticin.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF29. PTHR23239:SF29. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P41219-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS    50
    PSSSVRLGSF RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE 100
    LQELNDRFAN FIEKVRFLEQ QNAALRGELS QARGQEPARA DQLCQQELRE 150
    LRRELELLGR ERDRVQVERD GLAEDLAALK QRLEEETRKR EDAEHNLVLF 200
    RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ VSVESQQVQQ 250
    VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 300
    NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE 350
    AGGYQAGAAR LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL 400
    EGEESRISVP VHSFASLNIK TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV 450
    VTESQKEQRS ELDKSSAHSY 470
    Length:470
    Mass (Da):53,651
    Last modified:October 31, 2006 - v2
    Checksum:i4ABEAB96088719D6
    GO
    Isoform 2 (identifier: P41219-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         449-449: E → EQ

    Note: No experimental confirmation available. Gene prediction based on similarity to orthologs.

    Show »
    Length:471
    Mass (Da):53,779
    Checksum:i8138A4773E53D86A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti68 – 681G → R in AAA60190. (PubMed:7806235)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei449 – 4491E → EQ in isoform 2. CuratedVSP_021159

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L14565 Genomic DNA. Translation: AAA60190.1.
    AC125611 Genomic DNA. No translation available.
    BC032703 mRNA. Translation: AAH32703.1.
    CCDSiCCDS8783.1. [P41219-1]
    PIRiA55185.
    RefSeqiNP_006253.2. NM_006262.3. [P41219-1]
    XP_005269082.1. XM_005269025.1. [P41219-2]
    UniGeneiHs.37044.

    Genome annotation databases

    EnsembliENST00000257860; ENSP00000257860; ENSG00000135406. [P41219-1]
    GeneIDi5630.
    KEGGihsa:5630.
    UCSCiuc001rtu.3. human. [P41219-1]

    Polymorphism databases

    DMDMi118585871.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Peripherin entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L14565 Genomic DNA. Translation: AAA60190.1 .
    AC125611 Genomic DNA. No translation available.
    BC032703 mRNA. Translation: AAH32703.1 .
    CCDSi CCDS8783.1. [P41219-1 ]
    PIRi A55185.
    RefSeqi NP_006253.2. NM_006262.3. [P41219-1 ]
    XP_005269082.1. XM_005269025.1. [P41219-2 ]
    UniGenei Hs.37044.

    3D structure databases

    ProteinModelPortali P41219.
    SMRi P41219. Positions 93-232, 259-402.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111614. 13 interactions.
    IntActi P41219. 5 interactions.
    MINTi MINT-1482695.
    STRINGi 9606.ENSP00000257860.

    PTM databases

    PhosphoSitei P41219.

    Polymorphism databases

    DMDMi 118585871.

    Proteomic databases

    MaxQBi P41219.
    PaxDbi P41219.
    PRIDEi P41219.

    Protocols and materials databases

    DNASUi 5630.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257860 ; ENSP00000257860 ; ENSG00000135406 . [P41219-1 ]
    GeneIDi 5630.
    KEGGi hsa:5630.
    UCSCi uc001rtu.3. human. [P41219-1 ]

    Organism-specific databases

    CTDi 5630.
    GeneCardsi GC12P049687.
    H-InvDB HIX0026468.
    HGNCi HGNC:9461. PRPH.
    HPAi CAB002437.
    MIMi 170710. gene.
    neXtProti NX_P41219.
    Orphaneti 803. Amyotrophic lateral sclerosis.
    PharmGKBi PA33816.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282699.
    HOGENOMi HOG000230977.
    HOVERGENi HBG013015.
    InParanoidi P41219.
    KOi K07607.
    OMAi VVETFLY.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P41219.
    TreeFami TF330122.

    Miscellaneous databases

    GeneWikii Peripherin.
    GenomeRNAii 5630.
    NextBioi 21882.
    PROi P41219.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P41219.
    Bgeei P41219.
    CleanExi HS_PRPH.
    Genevestigatori P41219.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR027700. PRPH/Plasticin.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF29. PTHR23239:SF29. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements."
      Foley J., Ley C.A., Parysek L.M.
      Genomics 22:456-461(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2).
      Tissue: Placenta.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiPERI_HUMAN
    AccessioniPrimary (citable) accession number: P41219
    Secondary accession number(s): Q8N577
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: October 31, 2006
    Last modified: October 1, 2014
    This is version 128 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3