ENSG00000114646


Homo sapiens
membraneCSPG5defectivecausessulfatechondroitinprocessgolgibsulphatedevelopmentregulationactivitycellbiosyntheticdermatangrowthendoplasmicreticulumlumenplasmaintegralcomponentbiosynthesisgaltedstypechstneuralproteoglycancytoplasmic

Features
Gene ID: ENSG00000114646
  
Biological name :CSPG5
  
Synonyms : chondroitin sulfate proteoglycan 5 / CSPG5 / O95196
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p21.31
Gene start: 47562239
Gene end: 47580792
  
Corresponding Affymetrix probe sets: 205344_at (Human Genome U133 Plus 2.0 Array)   39966_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478923
Ensembl peptide - ENSP00000264723
Ensembl peptide - ENSP00000373244
Ensembl peptide - ENSP00000392096
NCBI entrez gene - 10675     See in Manteia.
OMIM - 606775
RefSeq - NM_001206944
RefSeq - NM_001206942
RefSeq - NM_001206943
RefSeq - NM_001206945
RefSeq - NM_006574
RefSeq Peptide - NP_001193873
RefSeq Peptide - NP_001193871
RefSeq Peptide - NP_001193872
RefSeq Peptide - NP_001193874
RefSeq Peptide - NP_006565
swissprot - O95196
swissprot - A0A087WUT8
Ensembl - ENSG00000114646
  
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
 cspg5aENSDARG00000069981Danio rerio
 cspg5bENSDARG00000099793Danio rerio
 CSPG5ENSGALG00000032184Gallus gallus
 Cspg5ENSMUSG00000032482Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009505  Neural chondroitin sulphate proteoglycan cytoplasmic
 IPR010555  CSPG5, sulphate attachment domain


Gene Ontology (GO)
anatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomical structure developmentcell communicationregulation of molecular functioncellular response to stimuluscellular developmental processnitrogen compound metabolic processorganic substance metabolic processbiosynthetic processcellular metabolic processprimary metabolic processsmall molecule metabolic processcatabolic processestablishment of localizationcellular localizationanatomicalanatomical structure developmentcell commucell communicationregulationregulation of molecular functioncellular rcellular response to stimuluscellular dcellular developmental processnitrogen cnitrogen compound metabolic processorganic suorganic substance metabolic processbiosynthetbiosynthetic processcellular mcellular metabolic processprimary meprimary metabolic processsmall molesmall molecule metabolic processcatabolic catabolic processestablishmestablishment of localizationcellular lcellular localization
protein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingreceptor regulator activityprotein bindingprotein bindingreceptor regulator activityreceptor regulator activity
cellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellcellmembranemembraneorganelleorganelleextracellular regionextracellular regionmembrane-enclosed lumenmembrane-enclosed lumen
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030203 glycosaminoglycan metabolic process TAS
 biological_processGO:0030206 chondroitin sulfate biosynthetic process TAS
 biological_processGO:0030207 chondroitin sulfate catabolic process TAS
 biological_processGO:0030208 dermatan sulfate biosynthetic process TAS
 biological_processGO:0040008 regulation of growth IEA
 biological_processGO:0046907 intracellular transport TAS
 biological_processGO:0050804 modulation of chemical synaptic transmission IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030660 Golgi-associated vesicle membrane IDA
 cellular_componentGO:0043202 lysosomal lumen TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity TAS


Pathways (from Reactome)
Pathway description
A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate biosynthesis
Dermatan sulfate biosynthesis
CS/DS degradation
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective CHST14 causes EDS, musculocontractural type
Defective CHSY1 causes TPBS
Defective B3GALT6 causes EDSP2 and SEMDJL1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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