ENSG00000249948


Homo sapiens

Features
Gene ID: ENSG00000249948
  
Biological name :GBA3
  
Synonyms : GBA3 / glucosylceramidase beta 3 (gene/pseudogene)
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: p15.2
Gene start: 22692914
Gene end: 22819575
  
Corresponding Affymetrix probe sets: 219954_s_at (Human Genome U133 Plus 2.0 Array)   222943_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423754
Ensembl peptide - ENSP00000480447
Ensembl peptide - ENSP00000478226
Ensembl peptide - ENSP00000427458
Ensembl peptide - ENSP00000422220
NCBI entrez gene - 57733     See in Manteia.
OMIM - 606619
RefSeq - NM_001277225
RefSeq - NM_020973
RefSeq - NM_001128432
RefSeq Peptide - NP_066024
RefSeq Peptide - NP_001121904
RefSeq Peptide - NP_001264154
swissprot - A0A087WTY7
swissprot - A0A087WWR5
Ensembl - ENSG00000249948
  
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
 gba3ENSDARG00000031150Danio rerio
 ENSGALG00000040208Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LCT / P09848 / lactaseENSG0000011585046
LCTL / Q6UWM7 / lactase likeENSG0000018850145
KL / klotho / Q9UEF7ENSG0000013311640
KLB / Q86Z14 / klotho betaENSG0000013496236


Protein motifs (from Interpro)
Interpro ID Name
 IPR001360  Glycoside hydrolase family 1
 IPR017853  Glycoside hydrolase superfamily
 IPR033132  Glycosyl hydrolases family 1, N-terminal conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA


Pathways (from Reactome)
Pathway description
No match


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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contact: otassy@igbmc.fr