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GANAB Gene

protein-coding   GIFtS: 64
GCID: GC11M062481

Glucosidase, Alpha; Neutral AB

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)
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Aliases
Glucosidase, Alpha; Neutral AB1 2     HEL-S-164nA2
Alpha-Glucosidase 22 3     Alpha Glucosidase II Alpha Subunit2
Glucosidase II Subunit Alpha2 3     Epididymis Secretory Sperm Binding Protein Li 164nA2
G2AN2 3     Neutral Alpha-Glucosidase AB2
EC 3.2.1.843 8     KIAA00883
GLUII2     EC 3.2.18

External Ids:    HGNC: 41381   Entrez Gene: 231932   Ensembl: ENSG000000895977   OMIM: 1041605   UniProtKB: Q146973   

Export aliases for GANAB gene to outside databases

Previous GC identifers: GC11U990054 GC11M062166 GC11M062148 GC11M062430 GC11M058721


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GANAB Gene:
GANAB (glucosidase, alpha; neutral AB) is a protein-coding gene. Diseases associated with GANAB include glycogen storage disease ii, and polycystic liver disease. GO annotations related to this gene include carbohydrate binding and glucan 1,3-alpha-glucosidase activity. An important paralog of this gene is SI.

UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)
oligosaccharide precursor of immature glycoproteins

summary for GANAB Gene:
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two
glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are
both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic
linkages, liberating alpha-glucose and beta-glucose respectively.

Gene Wiki entry for GANAB 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_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GANAB gene promoter:
         TBP   c-Fos   Max1   NF-1   Sp1   AP-1   Tal-1   E47   PPAR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGANAB promoter sequence
   Search Chromatin IP Primers for GANAB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GANAB


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

Entrez Gene cytogenetic band: 11q12.3   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12.3

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M062481:  view genomic region     (about GC identifiers)

Start:
62,392,298 bp from pter      End:
62,414,104 bp from pter
Size:
21,807 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: GANAB_HUMAN, Q14697 (See protein sequence)
Recommended Name: Neutral alpha-glucosidase AB precursor  
Size: 944 amino acids; 106874 Da
Subunit: Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC
(By similarity)
Sequence caution: Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: A6NC20 Q8WTS9 Q9P0X0
Alternative splicing: 3 isoforms:  Q14697-1   Q14697-2   Q14697-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for GANAB: NX_Q14697

Explore proteomics data for GANAB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys48, Lys269, Lys462, Lys472, Lys491, Lys899, Lys908, Lys930
  • Glycosylation2 at Asn97
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GANAB (Q14697) (see all 17)
     FSLGYHQ  IVDPHIK  LKISIPM  GGWEHRD 


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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001265121.1  NP_001265122.1  NP_001265123.1  NP_938148.1  NP_938149.2  

    ENSEMBL proteins: 
     ENSP00000432181   ENSP00000340466   ENSP00000349053   ENSP00000435306   ENSP00000434921  
     ENSP00000434805   ENSP00000433799   ENSP00000432593   ENSP00000442962  
    Reactome Protein details: Q14697

    GANAB Human Recombinant Protein Products:

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    Novus Biologicals GANAB Proteins
    Novus Biologicals GANAB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GANAB Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals GANAB Antibodies
    Abcam antibodies for GANAB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GANAB
    LSBio Antibodies in human, mouse, rat for GANAB

    GANAB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GANAB
    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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    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR000322 Glyco_hydro_31
     IPR011013 Gal_mutarotase_SF_dom
     IPR025887 Glyco_hydro_31_N_dom

    Graphical View of Domain Structure for InterPro Entry Q14697

    ProtoNet protein and cluster: Q14697

    1 Blocks protein domain: IPB000322 Glycoside hydrolase

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Similarity: Belongs to the glycosyl hydrolase 31 family


    GANAB 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: GANAB_HUMAN, Q14697
    Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)
    oligosaccharide precursor of immature glycoproteins
    Catalytic activity: Hydrolysis of terminal (1->3)-alpha-D-glucosidic links in (1->3)-alpha-D-glucans

         Genatlas biochemistry entry for GANAB:
    glucosidase,alpha-,neutral AB

         Enzyme Numbers (IUBMB): EC 3.2.1.841 2 EC 3.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0005515protein binding ----
    GO:0030246carbohydrate binding IEA--
    GO:0033919glucan 1,3-alpha-glucosidase activity IEA--
         
    GANAB for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GANAB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GANAB

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target GANAB:
    hsa-mir-93-3p (MIRT038734), hsa-mir-92a-3p (MIRT049013), hsa-mir-34a-5p (MIRT047360), hsa-mir-324-5p (MIRT043197), hsa-mir-181a-5p (MIRT047329), hsa-mir-17-5p (MIRT050974), hsa-mir-107 (MIRT048291), hsa-mir-3619-5p (MIRT052860), hsa-mir-125b-5p (MIRT046015), hsa-mir-484 (MIRT041824), hsa-mir-23b-3p (MIRT046294), hsa-mir-615-3p (MIRT040196), hsa-mir-1296-5p (MIRT036101), hsa-mir-181b-5p (MIRT047273), hsa-mir-222-3p (MIRT046817)

    Block miRNA regulation of human, mouse, rat GANAB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GANAB (see all 23):
    hsa-miR-136 hsa-miR-640 hsa-miR-125a-3p hsa-miR-3916 hsa-miR-3125 hsa-miR-515-5p hsa-miR-483-3p hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidGANAB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GANAB
    Predesigned siRNA for gene silencing in human, mouse, rat GANAB

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

    Clone
    Products:
         
    OriGene clones in human, mouse for GANAB (see all 11)
    OriGene ORF clones in mouse, rat for GANAB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GANAB (NM_198334)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GANAB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GANAB

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GANAB


    (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
    GANAB_HUMAN, Q14697: Endoplasmic reticulum (By similarity). Golgi apparatus (By similarity). Melanosome.
    Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    golgi apparatus2
    plasma membrane2
    extracellular1
    lysosome1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005794Golgi apparatus IEA--
    GO:0017177glucosidase II complex IEA--
    GO:0042470melanosome IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    GANAB 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 GANAB About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    Calnexin/calreticulin cycle0.00
    Post-translational protein modification0.43
    N-glycan trimming in the ER and Calnexin/Calreticulin cycle0.00
    2Metabolism
    Metabolic pathways0.38
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for GANAB
        N-glycan trimming in the ER and Calnexin/Calreticulin cycle
    Calnexin/calreticulin cycle


    3 Kegg Pathways  (Kegg details for GANAB):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Pathway: Glycan metabolism; N-glycan metabolism


    GANAB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GANAB: 

              Glycosylation in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GANAB

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

    Selected Interacting proteins for GANAB (Q146971, 3 ENSP000003404664) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486341, 3, ENSP000003874774EBI-348004,EBI-347545 I2D: score=3 STRING: ENSP00000387477
    ENSG00000231825P486341, 3, ENSP000004153634EBI-348004,EBI-347545 I2D: score=3 STRING: ENSP00000415363
    PRRC2AP486341, 3, ENSP000003651754EBI-348004,EBI-347545 I2D: score=3 STRING: ENSP00000365175
    ENSG00000206427P486341, 3EBI-348004,EBI-347545 I2D: score=3 
    ENSG00000225164P486341, 3EBI-348004,EBI-347545 I2D: score=3 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006457protein folding TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    GANAB 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GANAB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    2 HMDB Compounds for GANAB    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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 GANAB gene (6 alternative transcripts): 
    NM_014610.3  NM_001278192.1  NM_001278193.1  NM_001278194.1  NM_198334.2  NM_198335.3  

    Unigene Cluster for GANAB:

    Glucosidase, alpha; neutral AB
    Hs.595071  [show with all ESTs]
    Unigene Representative Sequence: NM_198335
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532402 ENST00000346178(uc001nua.3 uc001nub.3 uc001nuc.3 uc010rma.2 uc010rmb.2)
    ENST00000356638 ENST00000528503 ENST00000534779 ENST00000531563 ENST00000526732
    ENST00000534422 ENST00000534613 ENST00000525994 ENST00000524437 ENST00000526210
    ENST00000526392 ENST00000529737 ENST00000534419 ENST00000540933
    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 GANAB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GANAB (see all 23):
    hsa-miR-136 hsa-miR-640 hsa-miR-125a-3p hsa-miR-3916 hsa-miR-3125 hsa-miR-515-5p hsa-miR-483-3p hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidGANAB 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GANAB
    Predesigned siRNA for gene silencing in human, mouse, rat GANAB
    Clone
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    OriGene clones in human, mouse for GANAB (see all 11)
    OriGene ORF clones in mouse, rat for GANAB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GANAB (NM_198334)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GANAB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GANAB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GANAB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GANAB
      QuantiTect SYBR Green Assays in human, mouse, rat GANAB
      QuantiFast Probe-based Assays in human, mouse, rat GANAB

    Additional mRNA sequence: 

    AF144074.1 AJ000332.1 AK026548.1 AK026567.1 AK026997.1 AK295806.1 AK299819.1 AK302752.1 
    AK314370.1 BC017433.2 BC017435.2 BC034439.1 BC065266.1 D42041.1 

    Selected DOTS entries (see all 47):

    DT.100881206  DT.451541  DT.95309026  DT.97818996  DT.95316197  DT.95316278  DT.100881216  DT.100881208 
    DT.120710090  DT.97786093  DT.92461632  DT.100772264  DT.92461650  DT.86843276  DT.100881204  DT.120710067 
    DT.120710093  DT.95316179  DT.100881200  DT.100881209  DT.91825447  DT.100731848  DT.100881197  DT.120709935 

    Selected AceView cDNA sequences (see all 914):

    AU121143 AA411356 BE300625 CR609998 BU625509 BU072097 AI185755 BQ009210 
    BQ217120 AA383857 BQ049861 AW589580 BU160711 BU501558 BM543390 BM555694 
    BF970232 BM470129 BI053178 AU118370 BC017435 BX397645 BE256199 AI151241 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GANAB (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a ·
    SP1:                                                              -     -     -     -     -                                                                     
    SP2:                                -                             -     -     -     -     -                                                                     
    SP3:                                                              -                 -     -                                                                     
    SP4:                                                              -                 -     -                                                                     
    SP5:                                                              -                 -     -                                                                     

    ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c
    SP1:                                                                          -                                       
    SP2:                                                                          -                                       
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for GANAB

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


    GANAB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
    GANAB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GANAB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.595071

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Tissue specificity: Detected in placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GANAB: 
              Glycosylation in human mouse rat
              Unfolded Protein Response 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GANAB gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ganab1 , 5 alpha glucosidase 2 alpha neutral subunit1, 5 87.62(n)1
    91.92(a)1
      19 (5.96 cM)5
    143761  NM_008060.11  NP_032086.11 
     88981115 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    65(a)
    63(a)
    1 ↔ many
    1 ↔ many
    GL344502.1(59-11494)
    GL344736.1(3534-21522)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.37402 Transcribed sequence with weak similarity to protein more 72.27(n)    AL854348.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BI884538.12   -- 78.12(n)    BI884538.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG144761 CG14476 55.02(n)
    47.86(a)
      49953  NM_143888.4  NP_652145.1 
    worm
    (Caenorhabditis elegans)
    Secernentea aagr-31 aagr-3 52.11(n)
    48.87(a)
      179364  NM_073106.1  NP_505507.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT2(YBR229C)4
    ROT21
    Glucosidase II catalytic subunit required for normal more4
    ROT21
    47.12(n)1
    43.61(a)1
      2(679221-676357)4
    8525301, 4  NP_009788.31  NP_009788.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RSW31 RSW3 53.53(n)
    50(a)
      836504  NM_125779.2  NP_201189.1 
    rice
    (Oryza sativa)
    Liliopsida Os.61682 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.5(n)    AK066051.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GANAB gene
    SI2  GAA2  MGAM2  GANC2  LOC934322  
    2 SIMAP similar genes for GANAB using alignment to 6 protein entries:     GANAB_HUMAN (see all proteins):
    GANC    B3GAT3

    GANAB 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 GANAB (see all 604)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342950651,2
    C--62391900(+) AAAAA-/AGACCC 5 -- ds50011Minor allele frequency- A:0.00NA 2
    rs29582371,2
    C,F,H--62391926(-) cccTGC/GGTCtt 5 -- ds50016Minor allele frequency- G:0.18NA WA CSA 11
    rs71288521,2
    C,F--62391973(+) aggccG/Aaggca 5 -- ds50014Minor allele frequency- A:0.38NA 8
    rs29571221,2
    C,F,A,H--62392100(+) gactcC/Gggagg 5 -- ds50019Minor allele frequency- G:0.34NA WA CSA 138
    rs1818759961,2
    --62392180(+) CCAGCC/TTGGGC 5 -- ds50010--------
    rs1404531781,2
    --62392206(+) AGTCTC/GAAAAA 5 -- ds50010--------
    rs1873888341,2
    --62392214(+) AAAAGA/GAAAAA 5 -- ds50010--------
    rs30185611,2
    C,F,H--62392229(+) GAAAGA/CAAATG 5 -- ds500124Minor allele frequency- C:0.29NS EA NA WA CSA 2357
    rs1442197541,2
    C--62392241(+) AAGGTC/GTCTAG 5 -- ds50010--------
    rs1905654251,2
    --62392344(+) AACGTC/GTCACA 5 -- ut310--------

    HapMap Linkage Disequilibrium report for GANAB (62392298 - 62414104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GANAB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv825939CNV Gain20364138
    nsv832182CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GANAB
    DNA2.0 Custom Variant and Variant Library Synthesis for GANAB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104160    OMIM disorders: --

    15 diseases for GANAB:    
    About MalaCards
    glycogen storage disease ii    polycystic liver disease    glycogen storage disease    liver disease
    labyrinthitis    osteoarthritis    hiv-1    hepatocellular carcinoma
    tonsillitis    neuroblastoma    thyroiditis    malaria
    cerebritis    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GANAB:
    Glycogen storage disease II

    GANAB for disorders           About GeneDecksing


    Export disorders for GANAB 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 GANAB gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with GANAB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 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. (Genome Res. 2004)
    3. The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver. (PubMed id 10764838)1, 3 Treml K....Bause E. (Glycobiology 2000)
    4. The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. (PubMed id 10929008)1, 2 Pelletier M.F.... Thomas D.Y. (Glycobiology 2000)
    5. Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. (PubMed id 8910335)1, 2 Trombetta E.S.... Helenius A. (J. Biol. Chem. 1996)
    6. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T.... Nomura N. (DNA Res. 1995)
    7. Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. (PubMed id 3881423)1, 2 Martiniuk F.... Hirschhorn R. (J. Biol. Chem. 1985)
    8. Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. (PubMed id 6342981)1, 3 Martiniuk F....Hirschhorn R. (Cytogenet. Cell Genet. 1983)
    9. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    10. Canonical and kinase activity-independent mechanisms for extracellular signal-regulated kinase 5 (ERK5) nuclear translocation require dissociation of Hsp90 from the ERK5-Cdc37 complex. (PubMed id 23428871)1 Erazo T....Lizcano J.M. (Mol. Cell. Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23193 HGNC: 4138 AceView: GANAB Ensembl:ENSG00000089597 euGenes: HUgn23193
    ECgene: GANAB Kegg: 23193 H-InvDB: GANAB

    (According to HUGE)
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    HUGE: KIAA0088

    (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 GANAB Pharmacogenomics, SNPs, Pathways

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

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



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