PRPH

Protein identityUniProt · HPA

UniProt accession

P41219

Gene

PRPH

Ensembl

ENSG00000135406

Chromosome

12

Canonical length

470 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

470 residues, UniProt reviewed canonical sequence.

>P41219|PRPH
     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

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPH.

Disease | AllUniProt

Conditions PRPH is implicated in, by any mechanism.

• Amyotrophic lateral sclerosis (ALS) MIM:105400

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 123 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Amyotrophic lateral sclerosis type 1

ReferencesPubMed · IEDB

Publications for PRPH from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.38

gnomAD pLI

0

gnomAD missense Z

0.56

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intermediate filament organization

Molecular functions

• structural constituent of cytoskeleton
• structural molecule activity

Cellular components

• axon
• extracellular exosome
• intermediate filament
• membrane
• perikaryon
• plasma membrane
• type III intermediate filament

Protein domainsUniProt · Pfam · InterPro

• Keratin, type I
• Intermediate filament head, DNA-binding domain
• Intermediate filament protein, conserved site
• Intermediate filament, rod domain
• Intermediate filament structural protein
• Intermediate filament protein
• Intermediate filament head (DNA binding) region

KeywordsUniProt

• Amyotrophic lateral sclerosis
• Cell projection
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Intermediate filament
• Neurodegeneration
• Nitration
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of PRPH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DST
• PRKCE
• RAB7A
• DES
• KRT14
• KRT16
• KRT19
• KRT75
• LNX1
• PPP1R13B
• VIM