ENSG00000123560


Homo sapiens

Features
Gene ID: ENSG00000123560
  
Biological name :PLP1
  
Synonyms : P60201 / PLP1 / proteolipid protein 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q22.2
Gene start: 103773718
Gene end: 103792619
  
Corresponding Affymetrix probe sets: 210198_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391853
Ensembl peptide - ENSP00000393391
Ensembl peptide - ENSP00000484450
Ensembl peptide - ENSP00000481006
Ensembl peptide - ENSP00000480409
Ensembl peptide - ENSP00000477619
Ensembl peptide - ENSP00000413931
Ensembl peptide - ENSP00000409802
Ensembl peptide - ENSP00000403335
NCBI entrez gene - 5354     See in Manteia.
OMIM - 300401
RefSeq - NM_001128834
RefSeq - NM_001305004
RefSeq - NM_199478
RefSeq - NM_000533
RefSeq Peptide - NP_001122306
RefSeq Peptide - NP_001291933
RefSeq Peptide - NP_955772
RefSeq Peptide - NP_000524
swissprot - P60201
swissprot - B1B1G4
swissprot - B1B1G3
swissprot - B1B1G2
swissprot - B1B1G1
swissprot - A8K9L3
swissprot - A0A0S2Z4D4
swissprot - B1B1G6
Ensembl - ENSG00000123560
  
Related genetic diseases (OMIM): 312080 - Pelizaeus-Merzbacher disease, 312080
  312920 - Spastic paraplegia 2, X-linked, 312920
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
 plp1aENSDARG00000103732Danio rerio
 plp1bENSDARG00000011929Danio rerio
 PLP1ENSGALG00000000112Gallus gallus
 Plp1ENSMUSG00000031425Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GPM6B / Q13491 / glycoprotein M6BENSG0000004665347
GPM6A / P51674 / glycoprotein M6AENSG0000015062536


Protein motifs (from Interpro)
Interpro ID Name
 IPR001614  Myelin proteolipid protein PLP
 IPR018237  Myelin proteolipid protein PLP, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0008366 axon ensheathment TAS
 biological_processGO:0010001 glial cell differentiation IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0014002 astrocyte development IEA
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0022010 central nervous system myelination IEA
 biological_processGO:0042552 myelination IEA
 biological_processGO:0042759 long-chain fatty acid biosynthetic process IEA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0061564 axon development IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043209 myelin sheath IEA
 molecular_functionGO:0005198 structural molecule activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019911 structural constituent of myelin sheath IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000750 Impaired language development 
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001266 Choreoathetosis 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001310 Dysmetria 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001376 Decreased mobility of joints 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001583 Rotary nystagmus 
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 HP:0001761 Pes cavus 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002061 Lower limb spasticity 
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 HP:0002064 Spastic gait 
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 HP:0002071 Extrapyramidal signs 
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 HP:0002168 Scanning speech 
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 HP:0002204 Pulmonary embolism 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002313 Spastic paraparesis 
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 HP:0002314 Degeneration of the lateral corticospinal tracts 
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 HP:0002361 Psychomotor degeneration 
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 HP:0002478 Progressive spastic quadriplegia 
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 HP:0002503 Spinocerebellar tract degeneration 
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 HP:0002599 Head titubation 
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 HP:0002607 Bowel incontinence 
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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:0003269 Sudanophilic leukodystrophy 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003621 Juvenile onset 
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 HP:0003677 Slow progression 
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 HP:0003812 Phenotypic variability 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0004886 Congenital laryngeal stridor 
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 HP:0005340 Spastic/hyperactive bladder 
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 HP:0007256 Mild pyramidal signs 
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 HP:0007266 Dysmyelination of the brain 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0100709 Reduction of oligodendroglia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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