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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
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gm1 gangliosidosis type 3, and gangliosidosis gm1. GO annotations related to this gene include galactoside binding and beta-galactosidase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   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 Chromatin IP Primers for GLB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278 (See protein sequence)
Recommended Name: Beta-galactosidase precursor  
Size: 677 amino acids; 76075 Da
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: 

  • Glycosylation2 at Asn26, Asn247, Asn464, Asn498, Asn542, Asn545, Asn555
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GLB1 (P16278) (see all 22)
     LVENMGR  HDVEYFL  DRLLKMK  PGQYQFS 


    See GLB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    GLB1 Human Recombinant Protein Products:

    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.

    GLB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLB1
    R&D Systems Antibodies for GLB1 (beta-Galactosidase-1/GLB1)
    OriGene Antibodies for GLB1
    OriGene Custom Antibody Services for GLB1
    Novus Biologicals GLB1 Antibodies
    Abcam antibodies for GLB1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for GLB1
    LSBio Antibodies in human, mouse, rat for GLB1

    GLB1 Assay Products:

    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)
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    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for GLB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-let-7b-5p (MIRT032234), hsa-mir-155-5p (MIRT020509)

    Block miRNA regulation of human, mouse, rat GLB1 using miScript Target Protectors
    7 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for GLB1
    Predesigned siRNA for gene silencing in human, mouse, rat GLB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GLB1

    Clone
    Products:
         
    OriGene clones in human, mouse for GLB1 (see all 16)
    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GLB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GLB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BGAL_HUMAN, P16278: Isoform 1: Lysosome
    BGAL_HUMAN, P16278: Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the
    cytoplasm but not to lysosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular3
    nucleus3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    mitochondrion2
    plasma membrane2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome ----
    GO:0005794Golgi apparatus IDA--
    GO:0009341beta-galactosidase complex ----
    GO:0043202lysosomal lumen TAS--

    GLB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GLB1 About   (see all 11)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    lactose degradation III0.00
    Keratan sulfate degradation0.00
    2Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Galactose metabolism
    Galactose metabolism0.44
    Galactose metabolism0.44
    5MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GLB1
        lactose degradation III


    4 Reactome Pathways for GLB1
        Sialic acid metabolism
    Glycosphingolipid metabolism
    Keratan sulfate degradation
    HS-GAG degradation


    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GLB1: 
              Glycosylation in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GLB1

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

    Selected Interacting proteins for GLB1 (P162781, 2, 3 ENSP000003069204) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for GLB1 (BGAL)

    Selected 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)



    GLB1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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

    miRNA
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    Block miRNA regulation of human, mouse, rat GLB1 using miScript Target Protectors
    7 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat GLB1
    Clone
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    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLB1
    Primer
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    OriGene qPCR primer pairs and template standards for GLB1
    OriGene qSTAR qPCR primer pairs in human, mouse for GLB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLB1
      QuantiTect SYBR Green Assays in human, mouse, rat GLB1
      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.120909652  DT.75171759  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 

    Selected AceView cDNA sequences (see all 464):

    AW150012 BM661856 AI417398 W88531 AI000676 AI951437 BM510832 BQ021310 
    BM977903 AW612990 CA450207 BM689824 BF941612 AW662446 BM811658 AA306280 
    AK097007 CA440931 CK819875 AI128554 T29896 AI471535 AU134065 AA488380 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GLB1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
    GLB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443031
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GLB1: 
              Glycosylation in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GLB1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glb11 , 5 galactosidase, beta 11, 5 80.64(n)1
    79.28(a)1
      9 (64.40 cM)5
    120911  NM_009752.21  NP_033882.11 
     1144011195 
    chicken
    (Gallus gallus)
    Aves GLB11 galactosidase, beta 1 68.68(n)
    69.43(a)
      420720  NM_001278147.1  NP_001265076.1 
    lizard
    (Anolis carolinensis)
    Reptilia GLB16
    galactosidase, beta 1
    67(a)
    1 ↔ 1
    GL343324.1(586953-652869)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia glb1l1 galactosidase, beta 1-like 67.06(n)
    69.83(a)
      548712  NM_001015958.2  NP_001015958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii glb11 galactosidase, beta 1 65.6(n)
    65.81(a)
      548343  NM_001017547.1  NP_001017547.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ect33 beta-galactosidase 42(a)
    (best of 2)
      87A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea T19B10.31 , 3 beta-galactosidase3
    T19B10.31
    40(a)
    (best of 2)3
    49.72(n)1
    43.86(a)1
      V(11225572-11228886)3
    1885831  NM_073448.71  NP_505849.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BGAL171 BGAL17 49.94(n)
    44.97(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLB1 (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
    ----------
    rs76370991,2,,4
    C,F,HGM1-gangliosidosis 1 (GM1G1)4 --33071645(+) ACAGAG/AGGAGG 5 /P /L mis1 us2k1 trp320Minor allele frequency- A:0.49MN EA NS NA EU 3748
    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--------

    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
    Site Specific Mutation Identification with 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.)
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    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

  • Selected diseases for GLB1 (see all 60):    
    About MalaCards
    gm1 gangliosidosis type 3    gangliosidosis gm1    gm1 gangliosidosis type 2    glb1-related disorders
    gm1 gangliosidosis type 1    mucopolysaccharidosis iv    gangliosidosis    costello syndrome
    galactosialidosis    lactose intolerance    krabbe disease    mucopolysaccharidosis
    metachromatic leukodystrophy    lymphangioleiomyomatosis    mucolipidosis    gastrointestinal system disease
    lysosomal storage disease    leukodystrophy    mouth disease    lyme disease

    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

    Selected 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)
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    PubMed articles for GLB1 gene, integrated from 10 sources (see all 181):
    (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. (Biochem. Biophys. Res. Commun. 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. (Hum. Mutat. 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. (J. Med. Invest. 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. (Hum. Mutat. 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. (Hum. Genet. 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. (J. Biol. Chem. 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. (Clin. Genet. 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. (Am. J. Hum. Genet. 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. (J. Clin. Invest. 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. (Clin. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2720 HGNC: 4298 AceView: GLB1 Ensembl:ENSG00000170266 euGenes: HUgn2720
    ECgene: GLB1 Kegg: 2720 H-InvDB: GLB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GLB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GLB1[genesymbol]
    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.)
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    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



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