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P41219

- PERI_HUMAN

UniProt

P41219 - PERI_HUMAN

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Protein

Peripherin

Gene
PRPH, NEF4, PRPH1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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. neurofilament Source: Ensembl
  4. photoreceptor outer segment membrane Source: Ensembl
  5. type III intermediate filament Source: InterPro
Complete GO annotation...

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 tyrosine By similarity
Modified residuei379 – 3791Nitrated tyrosine By similarity
Modified residuei470 – 4701Phosphotyrosine By 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.

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

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei449 – 4491E → EQ in isoform 2. VSP_021159

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti68 – 681G → R in AAA60190. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 127 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

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