ENSG00000108518


Homo sapiens

Features
Gene ID: ENSG00000108518
  
Biological name :PFN1
  
Synonyms : P07737 / PFN1 / profilin 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.2
Gene start: 4945652
Gene end: 4949061
  
Corresponding Affymetrix probe sets: 200634_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000225655
Ensembl peptide - ENSP00000460363
Ensembl peptide - ENSP00000465019
NCBI entrez gene - 5216     See in Manteia.
OMIM - 176610
RefSeq - XM_017024761
RefSeq - NM_005022
RefSeq Peptide - NP_005013
swissprot - I3L3D5
swissprot - P07737
swissprot - K7EJ44
Ensembl - ENSG00000108518
  
Related genetic diseases (OMIM): 614808 - Amyotrophic lateral sclerosis 18, 614808
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
 pfn1ENSDARG00000088091Danio rerio
 Pfn1ENSMUSG00000018293Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PFN2 / P35080 / profilin 2ENSG0000007008761
PFN3 / P60673 / profilin 3ENSG0000019657042


Protein motifs (from Interpro)
Interpro ID Name
 IPR005454  Profilin1/2/3, vertebrate
 IPR005455  Profilin
 IPR027310  Profilin conserved site
 IPR036140  Profilin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0010634 positive regulation of epithelial cell migration IMP
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030837 negative regulation of actin filament polymerization IDA
 biological_processGO:0030838 positive regulation of actin filament polymerization IGI
 biological_processGO:0032232 negative regulation of actin filament bundle assembly IMP
 biological_processGO:0032233 positive regulation of actin filament bundle assembly IBA
 biological_processGO:0032781 positive regulation of ATPase activity IDA
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0051497 negative regulation of stress fiber assembly IMP
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:1900029 positive regulation of ruffle assembly IMP
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0005938 cell cortex IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0000774 adenyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0003785 actin monomer binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:0017048 Rho GTPase binding IEA
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0070064 proline-rich region binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Signaling by ROBO receptors
PCP/CE pathway
RHO GTPases Activate Formins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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: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:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [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:0002380 Fasciculations "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
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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
 ENSG00000100592 DAAM1 / Q9Y4D1 / dishevelled associated activator of morphogenesis 1  / reaction / complex
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / reaction / complex






 

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