ENSG00000102024


Homo sapiens

Features
Gene ID: ENSG00000102024
  
Biological name :PLS3
  
Synonyms : P13797 / plastin 3 / PLS3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q23
Gene start: 115561174
Gene end: 115650861
  
Corresponding Affymetrix probe sets: 201215_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000475900
Ensembl peptide - ENSP00000445339
Ensembl peptide - ENSP00000487343
Ensembl peptide - ENSP00000289290
Ensembl peptide - ENSP00000348163
Ensembl peptide - ENSP00000398945
Ensembl peptide - ENSP00000417728
Ensembl peptide - ENSP00000419051
Ensembl peptide - ENSP00000420458
NCBI entrez gene - 5358     See in Manteia.
OMIM - 300131
RefSeq - XM_011537534
RefSeq - NM_001136025
RefSeq - NM_001172335
RefSeq - NM_001282337
RefSeq - NM_001282338
RefSeq - NM_005032
RefSeq Peptide - NP_001129497
RefSeq Peptide - NP_001165806
RefSeq Peptide - NP_001269267
RefSeq Peptide - NP_005023
RefSeq Peptide - NP_001269266
swissprot - P13797
swissprot - A0A0A0MSQ0
swissprot - F2Z2Z9
swissprot - H7C4N2
swissprot - U3KQI3
Ensembl - ENSG00000102024
  
Related genetic diseases (OMIM): 300910 - Bone mineral density QTL18, osteoporosis, 300910
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
 pls3ENSDARG00000037655Danio rerio
 PLS3ENSGALG00000005930Gallus gallus
 Pls3ENSMUSG00000016382Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LCP1 / P13796 / lymphocyte cytosolic protein 1ENSG0000013616779
PLS1 / Q14651 / plastin 1ENSG0000012075675


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0051017 actin filament bundle assembly IBA
 biological_processGO:0051639 actin filament network formation IBA
 biological_processGO:0051764 actin crosslink formation IBA
 biological_processGO:0060348 bone development IMP
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005884 actin filament IBA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0032432 actin filament bundle IBA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0002953 Vertebral compression fractures 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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