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GLB1 (galactosidase beta 1)

Identity

Alias_namesELNR1
elastin receptor 1, 67kDa
elastin receptor 1 (67kD)
galactosidase, beta 1
Alias_symbol (synonym)EBP
Other aliasMPS4B
HGNC (Hugo) GLB1
LocusID (NCBI) 2720
Atlas_Id 50435
Location 3p22.3  [Link to chromosome band 3p22]
Location_base_pair Starts at 32996608 and ends at 33097230 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CMC1 (3p24.1) / GLB1 (3p22.3)DST (6p12.1) / GLB1 (3p22.3)GLB1 (3p22.3) / CMTM7 (3p22.3)
GLB1 (3p22.3) / INSC (11p15.2)RBPJ (4p15.2) / GLB1 (3p22.3)RPL28 (19q13.42) / GLB1 (3p22.3)
UBR4 (1p36.13) / GLB1 (3p22.3)CMC1 3p24.1 / GLB1 3p22.3GLB1 3p22.3 / INSC 11p15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GLB1   4298
Cards
Entrez_Gene (NCBI)GLB1  2720  galactosidase beta 1
AliasesEBP; ELNR1; MPS4B
GeneCards (Weizmann)GLB1
Ensembl hg19 (Hinxton)ENSG00000170266 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170266 [Gene_View]  chr3:32996608-33097230 [Contig_View]  GLB1 [Vega]
ICGC DataPortalENSG00000170266
TCGA cBioPortalGLB1
AceView (NCBI)GLB1
Genatlas (Paris)GLB1
WikiGenes2720
SOURCE (Princeton)GLB1
Genetics Home Reference (NIH)GLB1
Genomic and cartography
GoldenPath hg38 (UCSC)GLB1  -     chr3:32996608-33097230 -  3p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GLB1  -     3p22.3   [Description]    (hg19-Feb_2009)
EnsemblGLB1 - 3p22.3 [CytoView hg19]  GLB1 - 3p22.3 [CytoView hg38]
Mapping of homologs : NCBIGLB1 [Mapview hg19]  GLB1 [Mapview hg38]
OMIM230500   230600   230650   253010   611458   
Gene and transcription
Genbank (Entrez)AI091692 AK130133 AK222763 AK223091 AK298985
RefSeq transcript (Entrez)NM_000404 NM_001079811 NM_001135602 NM_001317040
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GLB1
Cluster EST : UnigeneHs.443031 [ NCBI ]
CGAP (NCI)Hs.443031
Alternative Splicing GalleryENSG00000170266
Gene ExpressionGLB1 [ NCBI-GEO ]   GLB1 [ EBI - ARRAY_EXPRESS ]   GLB1 [ SEEK ]   GLB1 [ MEM ]
Gene Expression Viewer (FireBrowse)GLB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2720
GTEX Portal (Tissue expression)GLB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16278   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16278  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16278
Splice isoforms : SwissVarP16278
Catalytic activity : Enzyme3.2.1.23 [ Enzyme-Expasy ]   3.2.1.233.2.1.23 [ IntEnz-EBI ]   3.2.1.23 [ BRENDA ]   3.2.1.23 [ KEGG ]   
PhosPhoSitePlusP16278
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F35 (PS01182)   
Domains : Interpro (EBI)B-gal_1-like    BetaGal_jelly_roll_dom    Galactose-bd-like    Gly_Hdrlase_35_cat    Glyco_hydro_35_CS    Glyco_hydro_catalytic_dom    Glycoside_Hdrlase_35    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)BetaGal_dom4_5 (PF13364)    Glyco_hydro_35 (PF01301)   
Domain families : Pfam (NCBI)pfam13364    pfam01301   
Conserved Domain (NCBI)GLB1
DMDM Disease mutations2720
Blocks (Seattle)GLB1
PDB (SRS)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
PDB (PDBSum)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
PDB (IMB)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
PDB (RSDB)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
Structural Biology KnowledgeBase3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
SCOP (Structural Classification of Proteins)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
CATH (Classification of proteins structures)3THC    3THD    3WEZ    3WF0    3WF1    3WF2    3WF3    3WF4   
SuperfamilyP16278
Human Protein AtlasENSG00000170266
Peptide AtlasP16278
HPRD01975
IPIIPI01012577   IPI00441550   IPI00927191   IPI00796919   IPI00924798   IPI00924998   IPI00925197   IPI00925829   IPI00926027   
Protein Interaction databases
DIP (DOE-UCLA)P16278
IntAct (EBI)P16278
FunCoupENSG00000170266
BioGRIDGLB1
STRING (EMBL)GLB1
ZODIACGLB1
Ontologies - Pathways
QuickGOP16278
Ontology : AmiGOexo-alpha-sialidase activity  beta-galactosidase activity  beta-galactosidase activity  beta-galactosidase activity  protein binding  extracellular region  extracellular space  cytoplasm  vacuole  Golgi apparatus  glycosaminoglycan catabolic process  glycosphingolipid metabolic process  galactoside binding  galactose catabolic process  azurophil granule lumen  keratan sulfate catabolic process  lysosomal lumen  intracellular membrane-bounded organelle  neutrophil degranulation  cellular carbohydrate metabolic process  perinuclear region of cytoplasm  extracellular exosome  ficolin-1-rich granule lumen  
Ontology : EGO-EBIexo-alpha-sialidase activity  beta-galactosidase activity  beta-galactosidase activity  beta-galactosidase activity  protein binding  extracellular region  extracellular space  cytoplasm  vacuole  Golgi apparatus  glycosaminoglycan catabolic process  glycosphingolipid metabolic process  galactoside binding  galactose catabolic process  azurophil granule lumen  keratan sulfate catabolic process  lysosomal lumen  intracellular membrane-bounded organelle  neutrophil degranulation  cellular carbohydrate metabolic process  perinuclear region of cytoplasm  extracellular exosome  ficolin-1-rich granule lumen  
Pathways : KEGGGalactose metabolism    Other glycan degradation    Glycosaminoglycan degradation    Sphingolipid metabolism    Glycosphingolipid biosynthesis - ganglio series    Lysosome   
NDEx NetworkGLB1
Atlas of Cancer Signalling NetworkGLB1
Wikipedia pathwaysGLB1
Orthology - Evolution
OrthoDB2720
GeneTree (enSembl)ENSG00000170266
Phylogenetic Trees/Animal Genes : TreeFamGLB1
HOVERGENP16278
HOGENOMP16278
Homologs : HomoloGeneGLB1
Homology/Alignments : Family Browser (UCSC)GLB1
Gene fusions - Rearrangements
Fusion : MitelmanCMC1/GLB1 [3p24.1/3p22.3]  [t(3;3)(p22;p24)]  
Fusion : MitelmanGLB1/CMTM7 [3p22.3/3p22.3]  [t(3;3)(p22;p22)]  
Fusion : MitelmanGLB1/INSC [3p22.3/11p15.2]  [t(3;11)(p22;p15)]  
Fusion : MitelmanUBR4/GLB1 [1p36.13/3p22.3]  [t(1;3)(p36;p22)]  
Fusion: TCGACMC1 3p24.1 GLB1 3p22.3 LUAD
Fusion: TCGAGLB1 3p22.3 INSC 11p15.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGLB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GLB1
dbVarGLB1
ClinVarGLB1
1000_GenomesGLB1 
Exome Variant ServerGLB1
ExAC (Exome Aggregation Consortium)GLB1 (select the gene name)
Genetic variants : HAPMAP2720
Genomic Variants (DGV)GLB1 [DGVbeta]
DECIPHERGLB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGLB1 
Mutations
ICGC Data PortalGLB1 
TCGA Data PortalGLB1 
Broad Tumor PortalGLB1
OASIS PortalGLB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGLB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGLB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch GLB1
DgiDB (Drug Gene Interaction Database)GLB1
DoCM (Curated mutations)GLB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GLB1 (select a term)
intoGenGLB1
Cancer3DGLB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM230500    230600    230650    253010    611458   
Orphanet21370    11283    11282    11281   
MedgenGLB1
Genetic Testing Registry GLB1
NextProtP16278 [Medical]
TSGene2720
GENETestsGLB1
Huge Navigator GLB1 [HugePedia]
snp3D : Map Gene to Disease2720
BioCentury BCIQGLB1
ClinGenGLB1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2720
Chemical/Pharm GKB GenePA28709
Clinical trialGLB1
Miscellaneous
canSAR (ICR)GLB1 (select the gene name)
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGLB1
EVEXGLB1
GoPubMedGLB1
iHOPGLB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:17:19 CEST 2017

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