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

GLB1L3 Gene

protein-coding   GIFtS: 43
GCID: GC11P134145

galactosidase, beta 1-like 3

 Explore 2 diseases affiliated with
GLB1L3 via our new
 Human Malady Compendium 
Biological research products
for GLB1L3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Galactosidase, Beta 1-Like 31 2     EC 3.2.1.-3
FLJ902311     EC 3.2.18
Beta-Galactosidase-1-Like Protein 32     EC 3.2.1.238
Galactosidase, Beta 1 Like 32     

External Ids:    HGNC: 251471   Entrez Gene: 1129372   Ensembl: ENSG000001661057   UniProtKB: Q8NCI63   

Export aliases for GLB1L3 gene to outside databases

Previous GC identifers: GC11P133652 GC11P130101


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLB1L3 gene promoter:
         CREB   AML1a   deltaCREB   SEF-1 (1)   POU6F1 (c2)   POU3F2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for GLB1L3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLB1L3


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

Entrez Gene cytogenetic band: 11q25   Ensembl cytogenetic band:  11q25   HGNC cytogenetic band: 11q25

GLB1L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLB1L3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P134145:  view genomic region     (about GC identifiers)

Start:
134,144,139 bp from pter      End:
134,189,458 bp from pter
Size:
45,320 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GLBL3_HUMAN, Q8NCI6 (See protein sequence)
Recommended Name: Beta-galactosidase-1-like protein 3  
Size: 653 amino acids; 74823 Da
Secondary accessions: A6NEM0 A6NN15 Q6P3S3 Q96FF8
Alternative splicing: 3 isoforms:  Q8NCI6-1   Q8NCI6-2   Q8NCI6-4   

Explore the universe of human proteins at neXtProt for GLB1L3: NX_Q8NCI6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCI6

  • 4/5 DME Specific Peptides for GLB1L3 (Q8NCI6) (see all 5)
     ERGKFDFS  YMFHGGTNF  YMFHGGTNFG  RGIVELLLTSD 

    GLB1L3 Protein expression data from MOPED and PaxDb:    About this image 
    GLB1L3 Protein Expression
    REFSEQ proteins: NP_001073876.2  
    ENSEMBL proteins: 
     ENSP00000374537   ENSP00000396615   ENSP00000397929  

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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GLB1L3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR026283 B-gal_1-like
     IPR017853 Glycoside_hydrolase_SF
     IPR008979 Galactose-bd-like
     IPR013781 Glyco_hydro_catalytic_dom
     IPR001944 Glycoside_Hdrlase_35

    Graphical View of Domain Structure for InterPro Entry Q8NCI6

    ProtoNet protein and cluster: Q8NCI6

    UniProtKB/Swiss-Prot: GLBL3_HUMAN, Q8NCI6
    Similarity: Belongs to the glycosyl hydrolase 35 family


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

         Enzyme Numbers (IUBMB): EC 3.2.1.-1 EC 3.2.12 EC 3.2.1.232

         Gene Ontology (GO): 3 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 IEA--
    GO:0043169cation binding IEA--
         
    GLB1L3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GLB1L3:
     Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GLB1L3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1L3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GLB1L3

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--

    GLB1L3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GLB1L3
    Search CenterWatch for drugs/clinical trials and news about GLB1L3 / GLBL3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GLB1L3 gene (2 alternative transcripts): 
    NM_138416.1  NM_001080407.2  

    Unigene Cluster for GLB1L3:

    Galactosidase, beta 1-like 3
    Hs.721382  [show with all ESTs]
    Unigene Representative Sequence: NM_001080407
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389887(uc010scs.2 uc010sct.2) ENST00000431683(uc009zdf.3 uc001qho.4)
    ENST00000532985 ENST00000486034(uc010scu.1) ENST00000498012 ENST00000455971
    ENST00000410100 ENST00000467068

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLB1L3
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate GLB1L3:
    hsa-miR-577 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-708* hsa-miR-23c hsa-miR-548c-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLB1L3 (see all 7)
    OriGene shRNA RFP: GLB1L3
    OriGene siRNA: GLB1L3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLB1L3
    Sirion Biotech Custom design and validation of potent shRNA sequences against GLB1L3 
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GLB1L3
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    Additional cDNA sequence: 

    AK074712.1 BC011001.2 BC131702.1 

    7 DOTS entries:

    DT.101954563  DT.92053841  DT.100660936  DT.101981068  DT.95089170  DT.100727544  DT.40129379 

    24/145 AceView cDNA sequences (see all 145):

    BU173188 BC008326 BG386617 AI379142 T07976 BQ068659 BQ899101 AI262635 
    F11826 BM721777 BQ677578 BE382579 BM450486 BQ678746 NM_138342 BP377297 
    BU196788 BU168671 BQ676641 AA306370 AA035048 BF589594 BQ678539 AI805064 

    GeneLoc Exon Structure


    (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

    GLB1L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTGAGTGG
    GLB1L3 Expression
    About this image
    See GLB1L3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLB1L3

    SOURCE GeneReport for Unigene cluster: Hs.721382
        SABiosciences Custom PCR Arrays for GLB1L3

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1L3

    (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 GLB1L3 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NLL2_CHICK6
    Beta-galactosidase
    55(a)
    1 → many
    24(2602620-2620848)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    51(a)
    1 → many
    GL343396.1(781747-818647)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-224e22.26
    si:dkey-224e22.2
    48(a)
    1 → many
    18(43163249-43182170)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BGAL126
    BGAL56
    (see all 17)
    beta-galactosidase 5
    (see all 17)
    20(a)
    20(a)
    (see all 17)
    possible ortholog
    possible ortholog
    (see all 17)
    4(13243076-13247926)
    1(17065252-17069262)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 14)
    beta-galactosidase precursor, putative, expressed
    (see all 14)
    20(a)
    19(a)
    (see all 14)
    possible ortholog
    possible ortholog
    (see all 14)
    6(22244389-22250775)
    2(6655774-6660984)


    ENSEMBL Gene Tree for GLB1L3 (if available)
    TreeFam Gene Tree for GLB1L3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLB1L3 gene
    GLB1L2  GLB12  GLB1L22  
    3 SIMAP similar genes for GLB1L3 using alignment to 2 protein entries:     GLBL3_HUMAN (see all proteins):
    GLB1L2    GLB1    GLB1L

    GLB1L3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/854 NCBI SNPs in GLB1L3 are shown (see all 854    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419403911,2
    --134144370(+) CCCAGA/CTGGCA 1 -- us2k10--------
    rs1506561881,2
    --134144486(+) CTTGAC/TACATA 1 -- us2k10--------
    rs1876919051,2
    --134144501(+) GTTCCA/GATAAA 1 -- us2k10--------
    rs752247221,2
    C--134144534(+) TGCAGG/ACCCAG 1 -- us2k12Minor allele frequency- A:0.10CSA WA 119
    rs1167360021,2
    F--134144586(+) ACCTAT/CAGCTG 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs619097171,2
    --134144597(+) TCATCA/GTACTT 1 -- us2k12Minor allele frequency- G:0.03NA 122
    rs1924959821,2
    --134144612(+) GTGAAA/CAACAG 1 -- us2k10--------
    rs1846755291,2
    --134144623(+) AATGTC/TTTCCA 1 -- us2k10--------
    rs766649311,2
    C--134144877(+) ACATGA/GGAAAC 1 -- us2k12Minor allele frequency- G:0.10CSA WA 119
    rs1125408751,2
    --134144995(+) AAAACA/GTGATA 1 -- us2k11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for GLB1L3 (134144139 - 134189458 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for GLB1L3
         15/17 CNVs (see all 17): 53709 75855 86096 86097 75854 48743 75856 101382 75853 86098 4764 86095 29921 48744 5280

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GLB1L3 for disorders           About GeneDecksing

    2 diseases for GLB1L3:    About MalaCards
    leber congenital amaurosis    pneumonia

    1 disease from the University of Copenhagen DISEASES database for GLB1L3:
    Leber congenital amaurosis
    Human Genome Epidemiology (HuGE) Navigator: GLB1L3 (1 document)

    Export disorders for GLB1L3 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 GLB1L3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with GLB1L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 112937 HGNC: 25147 AceView: LOC89944 Ensembl:ENSG00000166105 euGenes: HUgn112937
    ECgene: GLB1L3 H-InvDB: GLB1L3

    (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 GLB1L3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLB1L3 gene:
    Search GeneIP for patents involving GLB1L3

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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     Regulatory tfbs in GLB1L3 promoter
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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