P41219 · PERI_HUMAN

  • Protein
    Peripherin
  • Gene
    PRPH
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Class-III neuronal intermediate filament protein (By similarity).
May form an independent structural network without the involvement of other neurofilaments or may cooperate with the neuronal intermediate filament proteins NEFL, NEFH, NEFM and INA to form a filamentous network (PubMed:15322088, PubMed:15446584).
Assembly of the neuronal intermediate filaments may be regulated by RAB7A (By similarity).
Plays a role in the development of unmyelinated sensory neurons (By similarity).
May be involved in axon elongation and axon regeneration after injury (By similarity).
Inhibits neurite extension in type II spiral ganglion neurons in the cochlea (By similarity).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentaxon
Cellular Componentcytoplasm
Cellular Componentextracellular exosome
Cellular Componentintermediate filament
Cellular Componentmembrane
Cellular Componentperikaryon
Cellular Componentplasma membrane
Cellular Componenttype III intermediate filament
Molecular Functionstructural molecule activity

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Peripherin
  • Alternative names
    • Neurofilament 4

Gene names

    • Name
      PRPH
    • Synonyms
      NEF4, PRPH1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P41219
  • Secondary accessions
    • Q8N577

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Amyotrophic lateral sclerosis (ALS)

  • Note
    • Disease susceptibility may be associated with variants affecting the gene represented in this entry
  • Description
    A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
  • See also
    MIM:105400
Natural variants in ALS
Variant IDPosition(s)ChangeDescription
VAR_083259133R>Pin ALS; uncertain significance; dbSNP:rs267607528
VAR_083260141D>Yin ALS; uncertain significance; leads to filamentous aggregate formation; dbSNP:rs58599399

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_083259133in ALS; uncertain significance; dbSNP:rs267607528
Natural variantVAR_083260141in ALS; uncertain significance; leads to filamentous aggregate formation; dbSNP:rs58599399

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 589 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
ChainPRO_00000637791-470UniProtPeripherin
Modified residue17UniProt3'-nitrotyrosine
Modified residue28UniProtPhosphoserine
Modified residue (large scale data)28PRIDEPhosphoserine
Modified residue (large scale data)48PRIDEPhosphoserine
Modified residue50UniProtPhosphoserine
Modified residue (large scale data)50PRIDEPhosphoserine
Modified residue59UniProtPhosphoserine
Modified residue379UniProt3'-nitrotyrosine
Modified residue470UniProtPhosphotyrosine

Post-translational modification

Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons.

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in the neurons of the outer hair cells in the organ of Corti and to a lesser extent in type I spiral ganglion cells.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Forms homodimers (in vitro) (By similarity).
Homopolymerizes into a filamentous network (in vitro) (PubMed:15446584).
Forms heterodimers with NEFL, NEFM or NEFH (in vitro) (By similarity).
Interacts with DST (via C-terminus) (By similarity).
Interacts with RAB7A; the interaction is direct (PubMed:23179371).
Interacts with PRKCE (via phorbol-ester/DAG-type 2 domain) (PubMed:18408015).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY P41219ARNT2 Q86TN13EBI-752074, EBI-25844820
BINARY P41219ATL1 Q8WXF73EBI-752074, EBI-2410266
BINARY P41219BRK1 Q8WUW13EBI-752074, EBI-2837444
BINARY P41219CCDC120 Q96HB53EBI-752074, EBI-744556
BINARY P41219CDC37 Q165433EBI-752074, EBI-295634
BINARY P41219CENPV Q7Z7K63EBI-752074, EBI-1210604
BINARY P41219COPS3 Q9UNS23EBI-752074, EBI-350590
BINARY P41219CRYAA P024893EBI-752074, EBI-6875961
BINARY P41219CT55 Q8WUE53EBI-752074, EBI-6873363
BINARY P41219DDX6 P261963EBI-752074, EBI-351257
BINARY P41219DES P176617EBI-752074, EBI-1055572
BINARY P41219ENKUR Q8TC293EBI-752074, EBI-9246952
BINARY P41219FAM167A Q96KS94EBI-752074, EBI-10290462
BINARY P41219FCHO1 A0A0C3SFZ93EBI-752074, EBI-11977403
BINARY P41219HAUS7 Q998713EBI-752074, EBI-395719
BINARY P41219IFT20 Q8IY31-23EBI-752074, EBI-11742277
BINARY P41219INCA1 Q0VD863EBI-752074, EBI-6509505
BINARY P41219KCTD17 Q8N5Z53EBI-752074, EBI-743960
BINARY P41219KIAA0408 Q6ZU523EBI-752074, EBI-739493
BINARY P41219KIAA1217 Q5T5P2-63EBI-752074, EBI-10188326
BINARY P41219KIFC3 Q9BVG8-53EBI-752074, EBI-14069005
BINARY P41219KLC3 Q6P5973EBI-752074, EBI-1643885
BINARY P41219KRT14 P025333EBI-752074, EBI-702178
BINARY P41219KRT16 P087793EBI-752074, EBI-356410
BINARY P41219KRT19 P087276EBI-752074, EBI-742756
BINARY P41219KRT20 P359006EBI-752074, EBI-742094
BINARY P41219KRT24 Q2M2I53EBI-752074, EBI-2952736
BINARY P41219KRT27 Q7Z3Y83EBI-752074, EBI-3044087
BINARY P41219KRT31 Q153233EBI-752074, EBI-948001
BINARY P41219KRT33B Q145253EBI-752074, EBI-1049638
BINARY P41219KRT75 O956783EBI-752074, EBI-2949715
BINARY P41219LCA5L O954473EBI-752074, EBI-8473670
BINARY P41219LENG1 Q96BZ83EBI-752074, EBI-726510
BINARY P41219LNX1 Q8TBB16EBI-752074, EBI-739832
BINARY P41219LURAP1L Q8IV033EBI-752074, EBI-12898559
BINARY P41219MAGOHB Q96A723EBI-752074, EBI-746778
BINARY P41219NEUROD1 Q135623EBI-752074, EBI-3908303
BINARY P41219NVL O15381-53EBI-752074, EBI-18577082
BINARY P41219NXF1 Q9UBU93EBI-752074, EBI-398874
BINARY P41219PATZ1 Q9HBE1-43EBI-752074, EBI-11022007
BINARY P41219PHOX2A O148133EBI-752074, EBI-25844430
BINARY P41219PIAS1 O759253EBI-752074, EBI-629434
BINARY P41219PIAS2 O75928-23EBI-752074, EBI-348567
BINARY P41219PIH1D2 Q8WWB53EBI-752074, EBI-10232538
BINARY P41219PPP1R13B Q96KQ43EBI-752074, EBI-1105153
BINARY P41219PPP1R16B Q96T493EBI-752074, EBI-10293968
BINARY P41219PPP1R18 Q6NYC83EBI-752074, EBI-2557469
BINARY P41219PRKAA2 P546463EBI-752074, EBI-1383852
BINARY P41219PSMA1 P257863EBI-752074, EBI-359352
BINARY P41219RBM11 P570523EBI-752074, EBI-741332
XENO P41219rep PRO_0000449633 P0DTD13EBI-752074, EBI-25492395
BINARY P41219RNF112 Q9ULX53EBI-752074, EBI-25829984
BINARY P41219RNF183 Q96D593EBI-752074, EBI-743938
BINARY P41219RUSF1 Q96GQ53EBI-752074, EBI-8636004
BINARY P41219SAMD3 Q8N6K7-23EBI-752074, EBI-11528848
BINARY P41219SMARCD1 Q96GM53EBI-752074, EBI-358489
BINARY P41219SNW1 Q135733EBI-752074, EBI-632715
BINARY P41219TCEA2 Q155603EBI-752074, EBI-710310
BINARY P41219TCP10L Q8TDR46EBI-752074, EBI-3923210
BINARY P41219TEN1 Q86WV53EBI-752074, EBI-2562799
BINARY P41219TMEM54 Q969K73EBI-752074, EBI-3922833
BINARY P41219TTC23 Q5W5X9-33EBI-752074, EBI-9090990
BINARY P41219TUBGCP4 Q9UGJ1-23EBI-752074, EBI-10964469
BINARY P41219USH1G Q495M93EBI-752074, EBI-8601749
BINARY P41219VIM P086704EBI-752074, EBI-353844
BINARY P41219WTAP Q15007-23EBI-752074, EBI-25840023
BINARY P41219ZC2HC1C Q53FD0-23EBI-752074, EBI-14104088
BINARY P41219ZC4H2 Q9NQZ63EBI-752074, EBI-747993
BINARY P41219ZMAT2 Q96NC03EBI-752074, EBI-2682299
BINARY P41219ZNF232 Q9UNY53EBI-752074, EBI-749023
BINARY P41219ZNF444 Q8N0Y2-23EBI-752074, EBI-12010736
BINARY P41219ZNF572 Q7Z3I73EBI-752074, EBI-10172590

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for region, domain, compositional bias.

TypeIDPosition(s)Description
Region1-99Head
Domain97-407IF rod
Region100-132Coil 1A
Region133-143Linker 1
Region144-239Coil 1B
Region240-262Linker 2
Region263-405Coil 2
Region406-470Tail
Region447-470Disordered
Compositional bias450-470Basic and acidic residues

Sequence similarities

Belongs to the intermediate filament family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

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.

  • Length
    470
  • Mass (Da)
    53,651
  • Last updated
    2006-10-31 v2
  • Checksum
    4ABEAB96088719D6
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY

P41219-2

  • Name
    2
  • Note
    Gene prediction based on similarity to orthologs.
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
F8W835F8W835_HUMANPRPH207
H7C5W5H7C5W5_HUMANPRPH200

Features

Showing features for sequence conflict, alternative sequence, compositional bias.

TypeIDPosition(s)Description
Sequence conflict68in Ref. 1; AAA60190
Alternative sequenceVSP_021159449in isoform 2
Compositional bias450-470Basic and acidic residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
L14565
EMBL· GenBank· DDBJ
AAA60190.1
EMBL· GenBank· DDBJ
Genomic DNA
AC125611
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC032703
EMBL· GenBank· DDBJ
AAH32703.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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