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Prph Gene Detail
Summary
  • Symbol
    Prph
  • Name
    peripherin
  • Synonyms
    Prph1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97774
    NCBI Gene: 19132
  • Gene Overview
    MyGene.info: PRPH
Location & Maps
more
  • Sequence Map
    Chr15:99055174-99058978 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3805 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 55.72 cM, cytoband E-F
  • Mapping Data
    5 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    PRPH, peripherin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PRPH, peripherin
    Orthology source: HomoloGene
  • Synonyms
    NEF4, PRPH1
  • Links
    NCBI Gene ID: 5630
    neXtProt AC: NX_P41219

  • Chr Location
    12q13.12; chr12:49295013-49298698 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4559
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PRPH
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PRPH associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 1; ALS1   OMIM: 105400
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    1
  • Transgenic
    2
  • Genomic Mutations
    3 involving Prph
  • Incidental Mutations
Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023484 Ensembl Gene Model | MGI Sequence Detail 3805 C57BL/6J ±  kb
transcript ENSMUST00000047104 Ensembl | MGI Sequence Detail 1865 Not Applicable  
polypeptide ENSMUSP00000049303 Ensembl | MGI Sequence Detail 507 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    42 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 22
    Genomic 1
    cDNA 17
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13628
References
more
  • Summaries
    All 179
    Developmental Gene Expression 138
    Diseases 1
    Gene Ontology 13
    Phenotypes 26
  • Earliest
    J:32380 Landon F, et al., Multiple mRNAs encode peripherin, a neuronal intermediate filament protein. EMBO J. 1989 Jun;8(6):1719-26
  • Latest
    J:227057 Rattazzi L, et al., Impaired sense of smell and altered olfactory system in RAG-1(--) immunodeficient mice. Front Neurosci. 2015;9:318

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory