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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GLB1 Gene

protein-coding   GIFtS: 71
GCID: GC03M033013

Galactosidase, Beta 1

(Previous names: elastin receptor 1, 67kDa, elastin receptor 1 (67kD))
(Previous symbol: ELNR1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Galactosidase, Beta 11 2     Elastin Receptor 1 (67kD)1
ELNR11 2 3     EBP2
Elastin Receptor 1, 67kDa1 2     beta-galactosidase2
Acid Beta-Galactosidase2 3     lactase2
EC 3.2.1.233 8     Lactase3
MPS4B2 5     Elastin Receptor 13

External Ids:    HGNC: 42981   Entrez Gene: 27202   Ensembl: ENSG000001702667   OMIM: 6114585   UniProtKB: P162783   

Export aliases for GLB1 gene to outside databases

Previous GC identifers: GC03M032344 GC03M032884 GC03M033009


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLB1 Gene:
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from
ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and
Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Oct 2008)

GeneCards Summary for GLB1 Gene: 
GLB1 (galactosidase, beta 1) is a protein-coding gene. Diseases associated with GLB1 include gangliosidosis, and gm1 gangliosidosis type 1, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include galactoside binding and cation binding. An important paralog of this gene is GLB1L.

UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278
Function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and
glycosaminoglycans
Function: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of
extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical
to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on
fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing
cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which
facilitates the secretions of tropoelastin and its assembly into elastic fibers

Gene Wiki entry for GLB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLB1 gene promoter:
         HEN1   GATA-3   GCNF   HSF2   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GLB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.33   Ensembl cytogenetic band:  3p22.3   HGNC cytogenetic band: 3p22.3

GLB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLB1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M033013:  view genomic region     (about GC identifiers)

Start:
33,038,100 bp from pter      End:
33,138,722 bp from pter
Size:
100,623 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278 (See protein sequence)
Recommended Name: Beta-galactosidase precursor  
Size: 677 amino acids; 76075 Da
Subcellular location: Isoform 1: Lysosome
Subcellular location: Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the
cytoplasm but not to lysosomes
2 PDB 3D structures from and Proteopedia for GLB1:
3THC (3D)        3THD (3D)    
Secondary accessions: B2R7H8 B7Z6B0 P16279
Alternative splicing: 3 isoforms:  P16278-1   P16278-2, P16279-1   P16278-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GLB1: NX_P16278

Explore proteomics data for GLB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16278

  • 4/22 DME Specific Peptides for GLB1 (P16278) (see all 22)
     LVENMGR  HDVEYFL  DRLLKMK  PGQYQFS 

    GLB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLB1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000395.2  NP_001073279.1  NP_001129074.1  

    ENSEMBL proteins: 
     ENSP00000306920   ENSP00000382333   ENSP00000305920   ENSP00000411813   ENSP00000407365  
     ENSP00000401250   ENSP00000411769   ENSP00000403264   ENSP00000387989   ENSP00000393377  
    Reactome Protein details: P16278
    Human Recombinant Protein Products for GLB1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GLB1 (beta-Galactosidase-1/GLB1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for GLB1
    OriGene Protein Over-expression Lysate for GLB1
    OriGene MassSpec for GLB1 
    OriGene Custom Protein Services for GLB1
    GenScript Custom Purified and Recombinant Proteins Services for GLB1
    Novus Biologicals GLB1 Proteins
    Novus Biologicals GLB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for GLB1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0009341beta-galactosidase complex ----
    GO:0043202lysosomal lumen TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    GLB1 for ontologies           About GeneDecksing



    GLB1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLB1
    R&D Systems Antibodies for GLB1 (beta-Galactosidase-1/GLB1)
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    Novus Biologicals GLB1 Antibodies
    Abcam antibodies for GLB1
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    ThermoFisher Antibodies for GLB1
    LSBio Antibodies in human, mouse, rat for GLB1 

    Assay Products for GLB1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GLB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GLB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR026283 B-gal_1-like
     IPR019801 Glyco_hydro_35_CS
     IPR017853 Glycoside_hydrolase_SF
     IPR008979 Galactose-bd-like
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P16278

    ProtoNet protein and cluster: P16278

    1 Blocks protein domain: IPB001944 Glycoside hydrolase

    UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278
    Similarity: Belongs to the glycosyl hydrolase 35 family


    GLB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BGAL_HUMAN, P16278
    Function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and
    glycosaminoglycans
    Function: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of
    extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical
    to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on
    fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing
    cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which
    facilitates the secretions of tropoelastin and its assembly into elastic fibers
    Catalytic activity: Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides

         Genatlas biochemistry entry for GLB1:
    galactosidase,beta-1,lysosomal,acting or GM1 gangliosides,glycoproteins,oligosaccharides,keratan sulfate,stepwise
    degradation of sphingolipids,glycosaminoglycans (mucopolysaccharides),including a 67kDa enzymatically inactive
    alternatively spliced variant identical to elastin/laminin binding protein

         Enzyme Number (IUBMB): EC 3.2.1.231 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004565beta-galactosidase activity TAS3143362
    GO:0005515protein binding IPI15498789
    GO:0016936galactoside binding IEA--
         
    GLB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GLB1:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Glb1):
     behavior/neurological  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  renal/urinary system 
     reproductive system  skeleton 

    GLB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Glb1tm1Azzo for GLB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GLB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLB1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target GLB1:
    hsa-mir-218 (MIRT001061)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLB1
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate GLB1:
    hsa-miR-3606 hsa-miR-3616-5p hsa-miR-573 hsa-miR-202 hsa-miR-3647-5p hsa-miR-590-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidGLB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of GLB1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GLB1 (see all 17)
    OriGene ORF clones in mouse, rat for GLB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GLB1 (NM_001135602)
    Sino Biological Human cDNA Clone for GLB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLB1
    Sirion Biotech Customized lentivirus for stable overexpression of GLB1 
                         Customized lentivirus expression plasmids for stable overexpression of GLB1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GLB1 About   (see all 12)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Galactose metabolism
    Galactose metabolism0.46
    Galactose metabolism0.46
    4MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    5Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GLB1
        Galactose metabolism


    1 BioSystems Pathway for GLB1
        lactose degradation III


    5/23        Reactome Pathways for GLB1 (see all 23)
        Sphingolipid metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism


    5/7         Kegg Pathways  (Kegg details for GLB1) (see all 7):
        Galactose metabolism
    Other glycan degradation
    Glycosaminoglycan degradation
    Sphingolipid metabolism
    Glycosphingolipid biosynthesis - ganglio series


    GLB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/86 Interacting proteins for GLB1 (P162781, 2, 3 ENSP000003069204) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227129Q995191, 3, ENSP000004089574EBI-989638,EBI-721517 I2D: score=4 STRING: ENSP00000408957
    ENSG00000234846Q995191, 3, ENSP000003993094EBI-989638,EBI-721517 I2D: score=4 STRING: ENSP00000399309
    NEU1Q995191, 3, ENSP000003647824EBI-989638,EBI-721517 I2D: score=4 STRING: ENSP00000364782
    ENSG00000184494Q995191, 3EBI-989638,EBI-721517 I2D: score=4 
    ENSG00000223957Q995191, 3EBI-989638,EBI-721517 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0019388galactose catabolic process IEA--

    GLB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GLB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for GLB1

    Browse Tocris compounds for GLB1 (BGAL)

    10/73 HMDB Compounds for GLB1 (see all 73)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3'-Ketolactose3'-dehydro-beta-D-galactosyl-beta-D-glucopyranoside (see all 3)15990-62-2--
    3-Keto-b-D-galactose3-dehydro-beta-D-galactose (see all 4)----
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Alpha-Lactose(+)-lactose (see all 40)63-42-3--
    Beta-D-GalactoseBeta D-Galactose (see all 11)7296-64-2--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    Galactan 39300-87-3--
    Galactosylglycerol3-beta-D-Galactosyl-sn-glycerol (see all 5)----
    Ganglioside GA1 (d18:1/12:0)Asialo GM1 (see all 11)71012-19-6--

    9 Novoseek inferred chemical compound relationships for GLB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vgvapg 92 5 11084020 (2), 17030689 (1), 18076073 (1)
    lactose 58.8 14 11084020 (1), 15653554 (1), 17394124 (1), 19617625 (1) (see all 7)
    chondroitin sulfate 48.6 15 8635505 (3), 14695326 (2), 10712202 (1), 18485243 (1)
    sulfatide 47.3 2 2320574 (1), 8099782 (1)
    ganglioside 47.2 6 8400826 (2), 2320574 (1), 10942779 (1), 8099782 (1)
    keratan sulfate 45.2 2 16314480 (2)
    chondroitin 39.8 3 10712202 (1), 12561057 (1)
    succinate 12.4 1 1909633 (1)
    thymidine 0 2 9596414 (1)

    Search CenterWatch for drugs/clinical trials and news about GLB1 / BGAL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GLB1 gene (3 alternative transcripts): 
    NM_000404.2  NM_001079811.1  NM_001135602.1  

    Unigene Cluster for GLB1:

    Galactosidase, beta 1
    Hs.443031  [show with all ESTs]
    Unigene Representative Sequence: NM_001039770
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000307363(uc003cfi.1 uc003cfj.1 uc011axk.1) ENST00000399402(uc003cfh.1)
    ENST00000307377 ENST00000461475 ENST00000497796 ENST00000467571 ENST00000473477
    ENST00000482097 ENST00000485698 ENST00000481581 ENST00000490658 ENST00000498537
    ENST00000415454 ENST00000446732 ENST00000438227 ENST00000440656 ENST00000464355
    ENST00000450835
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-3606 hsa-miR-3616-5p hsa-miR-573 hsa-miR-202 hsa-miR-3647-5p hsa-miR-590-3p hsa-miR-548c-3p
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): GLB1 (NM_001135602)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLB1
    Sirion Biotech Customized lentivirus for stable overexpression of GLB1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLB1

    Additional mRNA sequence: 

    AK097007.1 AK126979.1 AK128242.1 AK130133.1 AK222763.1 AK223091.1 AK298985.1 AK300021.1 
    AK300753.1 AK312988.1 BC007493.2 BC136872.1 BC136873.1 BT007147.1 M22590.1 M27507.1 
    M27508.1 M34423.1 

    23 DOTS entries:

    DT.86849905  DT.92445848  DT.100029997  DT.92445860  DT.75171759  DT.120909652  DT.95361373  DT.95361354 
    DT.91872447  DT.100826313  DT.100767813  DT.92445844  DT.100029995  DT.100826297  DT.100826300  DT.100826306 
    DT.100826315  DT.120909636  DT.120909685  DT.92445853  DT.95361355  DT.95361371  DT.92416179 

    24/464 AceView cDNA sequences (see all 464):

    CA395772 BP375287 AI126127 BE535315 AI912856 F04035 CA306980 CR622020 
    AI979209 BP361042 BM783302 F07781 CR613034 BQ003356 BI821627 BM907336 
    AA083789 AI632731 AA633363 AA280403 CA309055 AW009678 AW514386 BM510832 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GLB1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                                                                      -     -                 -                                 
    SP2:                          -     -           -                                         -     -                 -                                 
    SP3:                    -     -     -     -                                                                                                         
    SP4:                    -     -     -                                                                                                               
    SP5:                                                                                            -                 -                                 


    ECgene alternative splicing isoforms for GLB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GLB1 expression in normal human tissues (normalized intensities)      GLB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACCTTTTT
    GLB1 Expression
    About this image


    GLB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Intestine (Gastrointestinal Tract)
             neonatal small intestine   

    See GLB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLB1

    SOURCE GeneReport for Unigene cluster: Hs.443031
        SABiosciences Expression via Pathway-Focused PCR Arrays including GLB1: 
              Glycosylation in human mouse rat
              Cellular Senescence in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GLB1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glb11 , 5 galactosidase, beta 11, 5 80.19(n)1
    78.46(a)1
      9 (64.40 cM)5
    120911  NM_009752.11  NP_033882.11 
     1144011195 
    chicken
    (Gallus gallus)
    Aves GLB16
    beta-galactosidase precursor
    69(a)
    1 ↔ 1
    2(45024614-45053587)
    lizard
    (Anolis carolinensis)
    Reptilia GLB16
    galactosidase, beta 1
    67(a)
    1 ↔ 1
    GL343324.1(586953-652869)
    zebrafish
    (Danio rerio)
    Actinopterygii glb11 galactosidase, beta 1 64.91(n)
    64.81(a)
      548343  NM_001017547.1  NP_001017547.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ect33
    Gal1
    beta-galactosidase3
    beta galactosidase1
    42(a)
    (best of 2)3
    49.51(n)1
    43.63(a)1
      87A43
    338391  NM_135134.21  NP_608978.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T19B10.33 beta-galactosidase 40(a)
    (best of 2)
      V(11225572-11228886)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BGAL171 beta-galactosidase 17 50.17(n)
    45.14(a)
      843630  NM_105957.2  NP_565051.1 
    rice
    (Oryza sativa)
    Liliopsida Os.145702 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 78.82(n)    AK068572.1 


    ENSEMBL Gene Tree for GLB1 (if available)
    TreeFam Gene Tree for GLB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLB1 gene
    GLB1L2  GLB1L32  GLB1L22  
    3 SIMAP similar genes for GLB1 using alignment to 9 protein entries:     BGAL_HUMAN (see all proteins):
    GLB1L    GLB1L2    GLB1L3

    GLB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2414 SNPs in GLB1 are shown (see all 2414)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0623414
    GM1-gangliosidosis 2 (GM1G2)4--see VAR_0623412 R Q mis40--------
    VAR_0623524
    Mucopolysaccharidosis 4B (MPS4B)4--see VAR_0623522 D Y mis40--------
    VAR_0086764
    GM1-gangliosidosis 1 (GM1G1)4--see VAR_0086762 R C mis40--------
    VAR_0261304
    GM1-gangliosidosis 2 (GM1G2)4--see VAR_0261302 R W mis40--------
    VAR_0623434
    Mucopolysaccharidosis 4B (MPS4B)4--see VAR_0623432 Y C mis40--------
    VAR_0623604
    GM1-gangliosidosis 1 (GM1G1)4--see VAR_0623602 K N mis40--------
    VAR_0623684
    Mucopolysaccharidosis 4B (MPS4B)4--see VAR_0623682 Y C mis40--------
    VAR_0261294
    GM1-gangliosidosis 1 (GM1G1)4--see VAR_0261292 R C mis40--------
    VAR_0033374
    Mucopolysaccharidosis 4B (MPS4B)4--see VAR_0033372 W C mis40--------
    VAR_0623514
    GM1-gangliosidosis 1 (GM1G1)4--see VAR_0623512 G D mis40--------

    HapMap Linkage Disequilibrium report for GLB1 (33038100 - 33138722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GLB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2725116CNV Deletion23290073
    nsv3753CNV Insertion18451855
    nsv876678CNV Loss21882294
    nsv509820CNV Loss20534489
    esv33555CNV Gain17666407


    Human Gene Mutation Database (HGMD): GLB1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GLB1
    DNA2.0 Custom Variant and Variant Library Synthesis for GLB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611458   
    OMIM disorders: 230500  230600  230650  253010  
    UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278
  • GM1-gangliosidosis 1 (GM1G1) [MIM:230500]: An autosomal recessive lysosomal storage disease marked by the
    accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous
    system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central
    nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of
    Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It
    leads to death usually between the first and second year of life. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • GM1-gangliosidosis 2 (GM1G2) [MIM:230600]: A gangliosidosis characterized by onset between ages 1 and 5.
    The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures.
    Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete
    elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • GM1-gangliosidosis 3 (GM1G3) [MIM:230650]: A gangliosidosis with a variable phenotype. Patients show mild
    skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent.
    Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal
    recessive. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]: A form of mucopolysaccharidosis type 4, an autosomal
    recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and
    chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and
    corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the
    skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe
    phenotype usually do not survive past the second or third decade of life. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/45 diseases for GLB1 (see all 45):    About MalaCards
    gangliosidosis    gm1 gangliosidosis type 1    gm1 gangliosidosis type 3    gangliosidosis gm1
    morquio syndrome b    costello syndrome    galactosialidosis    lactose intolerance
    krabbe disease    metachromatic leukodystrophy    gastrointestinal system disease    lymphangioleiomyomatosis
    lysosomal storage disease    mucopolysaccharidosis    mucolipidosis    leukodystrophy
    mouth disease    fibrosarcoma    skeletal dysplasias    duchenne muscular dystrophy

    11 diseases from the University of Copenhagen DISEASES database for GLB1:
    Gangliosidosis     Cancer     Mucolipidosis     Krabbe disease
    Vaccinia     Mucopolysaccharidosis     Vascular disease     Duchenne muscular dystrophy
    Lactose intolerance     Cystic fibrosis     Eye disease

    GLB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 Novoseek inferred disease relationships for GLB1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gangliosidosis gm1 95.7 17 17221873 (4), 12644936 (2), 17309651 (2), 17661814 (2) (see all 10)
    morquios syndrome 89.7 10 10757351 (2), 9645093 (1), 17664528 (1), 11511921 (1) (see all 9)
    gangliosidosis gm1 infantile 86.1 1 1946081 (1)
    sialidosis 82.6 2 16538002 (1)
    lysosomal storage diseases 55.9 2 1946081 (1), 10338095 (1)
    enzyme deficiency 39.3 2 16538002 (1)
    cardiomyopathy 28.5 4 17221873 (1), 10737981 (1)
    fibrosarcoma 17.6 2 11964074 (1)
    astrocytoma 12.8 8 9890632 (3), 9596414 (2)
    melanoma 3.67 4 15009703 (4)

    Genetic Association Database (GAD): GLB1
    Human Genome Epidemiology (HuGE) Navigator: GLB1 (1 document)

    Export disorders for GLB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GLB1 gene, integrated from 9 sources (see all 178):
    (articles sorted by number of sources associating them with GLB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, sequencing, and expression of cDNA for human beta-galactosidase. (PubMed id 3143362)1, 2, 3 Oshima A....Suzuki Y. (1988)
    2. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. (PubMed id 15714521)1, 2, 9 Caciotti A....Morrone A. (2005)
    3. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. (PubMed id 16538002)1, 2, 9 Tatano Y.... Itoh K. (2006)
    4. Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. (PubMed id 10737981)1, 2, 9 Morrone A.... Zammarchi E. (2000)
    5. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (PubMed id 12644936)1, 2, 9 Caciotti A....Morrone A. (2003)
    6. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. (PubMed id 9497360)1, 2, 9 Privitera S.... Hinek A. (1998)
    7. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. (PubMed id 17661814)1, 2, 9 Gort L.... Chabas A. (2007)
    8. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. (PubMed id 10841810)1, 2, 9 Hinek A.... Callahan J.W. (2000)
    9. The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta- galactosidase. (PubMed id 8383699)1, 2, 9 Hinek A.... Callahan J. (1993)
    10. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. (PubMed id 17309651)1, 2, 9 Santamaria R.... Vilageliu L. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2720 HGNC: 4298 AceView: GLB1 Ensembl:ENSG00000170266 euGenes: HUgn2720
    ECgene: GLB1 Kegg: 2720 H-InvDB: GLB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GLB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLB1
    Wikipedia http://en.wikipedia.org/wiki/Beta-galactosidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLB1 gene:
    Search GeneIP for patents involving GLB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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