• Gene id: 5630

Gene Summary

• Gene Symbol: PRPH   Gene   UCSC   Ensembl
• Aliases: NEF4, PRPH1
• Gene name: peripherin
• Alternate names: peripherin, neurofilament 4 (57kD),
• Gene location: 12q13.12 (49295143: 49298697)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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 pe
• OMIM: 170710

Protein Summary

• Protein general information: P41219  
  • Name: Peripherin (Neurofilament 4)
  • Length: 470  
  • Mass: 53651
  • 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. {ECO
• Sequence:

  MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPS
  ERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRE
  LRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEI
  EFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANR
  NHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARH
  LREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEV
  VTESQKEQRSELDKSSAHSY

• Structural information:
  • Protein Domains: (97..40-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR006821  IPR002957   IPR027700  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000257860
• Other Databases: GeneCards:  PRPH  Malacards:  PRPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	IEA	molecular function
GO:0045098	type III intermediate filament	IEA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005882	intermediate filament	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Amyotrophic lateral sclerosis	KEGG:H00058
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R