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P41219 (PERI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peripherin
Alternative name(s):
Neurofilament 4
Gene names
Name:PRPH
Synonyms:NEF4, PRPH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length470 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Class-III neuronal intermediate filament protein.

Sequence similarities

Belongs to the intermediate filament family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P41219-1)

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.
Isoform 2 (identifier: P41219-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 470470Peripherin
PRO_0000063779

Regions

Region1 – 9999Head
Region100 – 405306Rod
Region100 – 13233Coil 1A
Region133 – 14311Linker 1
Region144 – 23996Coil 1B
Region240 – 26223Linker 2
Region263 – 405143Coil 2
Region406 – 47065Tail

Amino acid modifications

Modified residue171Nitrated tyrosine By similarity
Modified residue3791Nitrated tyrosine By similarity
Modified residue4701Phosphotyrosine By similarity

Natural variations

Alternative sequence4491E → EQ in isoform 2.
VSP_021159

Experimental info

Sequence conflict681G → R in AAA60190. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 31, 2006. Version 2.
Checksum: 4ABEAB96088719D6

FASTA47053,651
        10         20         30         40         50         60 
MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS PSSSVRLGSF 

        70         80         90        100        110        120 
RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE LQELNDRFAN FIEKVRFLEQ 

       130        140        150        160        170        180 
QNAALRGELS QARGQEPARA DQLCQQELRE LRRELELLGR ERDRVQVERD GLAEDLAALK 

       190        200        210        220        230        240 
QRLEEETRKR EDAEHNLVLF RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ 

       250        260        270        280        290        300 
VSVESQQVQQ VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 

       310        320        330        340        350        360 
NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE AGGYQAGAAR 

       370        380        390        400        410        420 
LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL EGEESRISVP VHSFASLNIK 

       430        440        450        460        470 
TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV VTESQKEQRS ELDKSSAHSY 

« Hide

Isoform 2 [UniParc].

Checksum: 8138A4773E53D86A
Show »

FASTA47153,779

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Wikipedia

Peripherin entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L14565 Genomic DNA. Translation: AAA60190.1.
AC125611 Genomic DNA. No translation available.
BC032703 mRNA. Translation: AAH32703.1.
CCDSCCDS8783.1. [P41219-1]
PIRA55185.
RefSeqNP_006253.2. NM_006262.3. [P41219-1]
XP_005269082.1. XM_005269025.1. [P41219-2]
UniGeneHs.37044.

3D structure databases

ProteinModelPortalP41219.
SMRP41219. Positions 93-232, 259-402.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111614. 13 interactions.
IntActP41219. 5 interactions.
MINTMINT-1482695.
STRING9606.ENSP00000257860.

PTM databases

PhosphoSiteP41219.

Polymorphism databases

DMDM118585871.

Proteomic databases

MaxQBP41219.
PaxDbP41219.
PRIDEP41219.

Protocols and materials databases

DNASU5630.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257860; ENSP00000257860; ENSG00000135406. [P41219-1]
GeneID5630.
KEGGhsa:5630.
UCSCuc001rtu.3. human. [P41219-1]

Organism-specific databases

CTD5630.
GeneCardsGC12P049687.
H-InvDBHIX0026468.
HGNCHGNC:9461. PRPH.
HPACAB002437.
MIM170710. gene.
neXtProtNX_P41219.
Orphanet803. Amyotrophic lateral sclerosis.
PharmGKBPA33816.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282699.
HOGENOMHOG000230977.
HOVERGENHBG013015.
InParanoidP41219.
KOK07607.
OMAVVETFLY.
OrthoDBEOG7FV3Q8.
PhylomeDBP41219.
TreeFamTF330122.

Gene expression databases

ArrayExpressP41219.
BgeeP41219.
CleanExHS_PRPH.
GenevestigatorP41219.

Family and domain databases

InterProIPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
IPR027700. PRPH/Plasticin.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF29. PTHR23239:SF29. 1 hit.
PfamPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
PRINTSPR01248. TYPE1KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPeripherin.
GenomeRNAi5630.
NextBio21882.
PROP41219.
SOURCESearch...

Entry information

Entry namePERI_HUMAN
AccessionPrimary (citable) accession number: P41219
Secondary accession number(s): Q8N577
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM