ENSG00000135406


Homo sapiens

Features
Gene ID: ENSG00000135406
  
Biological name :PRPH
  
Synonyms : P41219 / peripherin / PRPH
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.12
Gene start: 49293252
Gene end: 49298686
  
Corresponding Affymetrix probe sets: 213847_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000257860
Ensembl peptide - ENSP00000408897
Ensembl peptide - ENSP00000437182
NCBI entrez gene - 5630     See in Manteia.
OMIM - 170710
RefSeq - XM_005269025
RefSeq - NM_006262
RefSeq Peptide - NP_006253
swissprot - F8W835
swissprot - P41219
swissprot - H7C5W5
Ensembl - ENSG00000135406
  
Related genetic diseases (OMIM): 105400 - {Amyotrophic lateral sclerosis, susceptibility to}, 105400
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prphENSDARG00000028306Danio rerio
 PrphENSMUSG00000023484Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DES / desmin / P17661ENSG0000017508458
VIM / P08670 / vimentinENSG0000002602556
GFAP / P14136 / glial fibrillary acidic proteinENSG0000013109547
INA / Q16352 / internexin neuronal intermediate filament protein alphaENSG0000014879846
NEFL / P07196 / neurofilament lightENSG0000027758642
NEFM / P07197 / neurofilament mediumENSG0000010472241
NEFH / P12036 / neurofilament heavyENSG0000010028534
LMNA / P02545 / lamin A/CENSG0000016078928
LMNB1 / P20700 / lamin B1ENSG0000011336827
LMNB2 / Q03252 / lamin B2ENSG0000017661927


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR002957  Keratin, type I
 IPR006821  Intermediate filament head, DNA-binding domain
 IPR018039  Intermediate filament protein, conserved site
 IPR027700  Peripherin/Plasticin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0045098 type III intermediate filament IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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