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ALG10 Gene

protein-coding   GIFtS: 55
GCID: GC12P034075

ALG10, Alpha-1,2-Glucosyltransferase

(Previous names: asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase...)
  See ALG10-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
ALG10, Alpha-1,2-Glucosyltransferase1 2     DIE22
Alpha-1,2-Glucosyltransferase ALG10-A2 3     alpha2-glucosyltransferase2
Alpha-2-Glucosyltransferase ALG10-A2 3     Asparagine-Linked Glycosylation 10 Homolog (Yeast,
Alpha-1,2-Glucosyltransferase)2
Asparagine-Linked Glycosylation Protein 10 Homolog A2 3     Asparagine-Linked Glycosylation 10, Alpha-1,2-Glucosyltransferase Homolog2
ALG10A2 3     Derepression Of ITR1 Expression 2 Homolog2
KCR12 5     Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol Alpha-1,2-Glucosyltransferase2
2- Glucosyltransferase1     Dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dolichol Alpha-1,2-
Glucosyltransferase2
Asparagine-Linked Glycosylation 10, Alpha-1,2-Glucosyltransferase Homolog
(S. Pombe)1
     Potassium Channel Regulator 12
Asparagine-Linked Glycosylation 10, Alpha-1,2-Glucosyltransferase Homolog
(Yeast)1
     EC 2.4.1.2563
Derepression Of ITR1 Expression 2 Homolog (S. Cerevisiae)1     EC 2.4.18
Dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dolichol Alpha-11     EC 2.4.1.168

External Ids:    HGNC: 231621   Entrez Gene: 849202   Ensembl: ENSG000001391337   OMIM: 6033135   UniProtKB: Q5BKT43   

Export aliases for ALG10 gene to outside databases

Previous GC identifers: GC12P034066 GC12P033915


(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 ALG10 Gene:
This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked
oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl
phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein
homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium
ion channel. (provided by RefSeq, Jan 2010)

GeneCards Summary for ALG10 Gene:
ALG10 (ALG10, alpha-1,2-glucosyltransferase) is a protein-coding gene. Diseases associated with ALG10 include long qt syndrome, acquired, reduced, and long qt syndrome 1. GO annotations related to this gene include transferase activity, transferring hexosyl groups. An important paralog of this gene is ALG10B.

UniProtKB/Swiss-Prot: AG10A_HUMAN, Q5BKT4
Function: Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation.
Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide
Glc(2)Man(9)GlcNAc(2)-PP-Dol




(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_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG10 gene promoter:
         AML1a   Evi-1   SRY   FAC1   PPAR-gamma1   POU2F1   POU2F1a   Pax-4a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG10 promoter sequence
   Search Chromatin IP Primers for ALG10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG10


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

Entrez Gene cytogenetic band: 12p11.1   Ensembl cytogenetic band:  12p11.1   HGNC cytogenetic band: 12p11.21

ALG10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG10 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P034075:  view genomic region     (about GC identifiers)

Start:
34,175,216 bp from pter      End:
34,182,629 bp from pter
Size:
7,414 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AG10A_HUMAN, Q5BKT4 (See protein sequence)
Recommended Name: Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase  
Size: 473 amino acids; 55606 Da
Sequence caution: Sequence=BAB55272.1; Type=Erroneous initiation;
Secondary accessions: Q6NS98 Q96DU0 Q96SM6

Explore the universe of human proteins at neXtProt for ALG10: NX_Q5BKT4

Explore proteomics data for ALG10 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys224
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ALG10 (Q5BKT4)
     FSVGNFY  LADNRHY 


    See ALG10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116223.3  
    ENSEMBL proteins: 
     ENSP00000266483   ENSP00000444084   ENSP00000443142  
    Reactome Protein details: Q5BKT4

    ALG10 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for ALG10 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR016900 Alg10

    Graphical View of Domain Structure for InterPro Entry Q5BKT4

    ProtoNet protein and cluster: Q5BKT4

    UniProtKB/Swiss-Prot: AG10A_HUMAN, Q5BKT4
    Similarity: Belongs to the ALG10 glucosyltransferase family


    Find genes that share domains with ALG10           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AG10A_HUMAN, Q5BKT4
    Function: Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation.
    Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide
    Glc(2)Man(9)GlcNAc(2)-PP-Dol
    Catalytic activity: Dolichyl beta-D-glucosyl phosphate +
    D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    =
    D-Glc-alpha-(1->2)-D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.2561 EC 2.4.1.162

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016758transferase activity, transferring hexosyl groups IEA--
         
    Find genes that share ontologies with ALG10           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Alg10b (no phenotypes)

    Find genes that share phenotypes with ALG10           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG10
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG10

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALG10:
    hsa-mir-192-5p (MIRT026608), hsa-mir-215-5p (MIRT024467)

    Block miRNA regulation of human, mouse, rat ALG10 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ALG10:
    hsa-miR-3606 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidALG10 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ALG10

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ALG10 (NM_032834)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG10

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG10


    (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
    AG10A_HUMAN, Q5BKT4: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ALG10           About GenesLikeMe


    (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 ALG10 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
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ALG10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ALG10
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG10):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: AG10A_HUMAN, Q5BKT4
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG10
    Interactions:

        GeneGlobe Interaction Network for ALG10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for ALG10 (Q5BKT43 ENSP000002664834) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNH1O952593, ENSP000002717514I2D: score=1 STRING: ENSP00000271751
    KCNH2Q128093, ENSP000002621864I2D: score=1 STRING: ENSP00000262186
    DDOSTENSP000003641884STRING: ENSP00000364188
    RPN1ENSP000002962554STRING: ENSP00000296255
    MAGT1ENSP000003546494STRING: ENSP00000354649
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with ALG10           About GenesLikeMe



    (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 

    Browse Tocris compounds for ALG10 (AG10A)

    1 HMDB Compound for ALG10    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichyl b-D-glucosyl phosphateDolichol monophosphate glucose (see all 10)220496-27-5--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALG10 gene: 
    NM_032834.3  

    Unigene Cluster for ALG10:

    ALG10, alpha-1,2-glucosyltransferase
    Hs.102971  [show with all ESTs]
    Unigene Representative Sequence: NM_032834
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266483(uc001rlm.3) ENST00000538927 ENST00000541178 ENST00000541875

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ALG10 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ALG10:
    hsa-miR-3606 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidALG10 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ALG10
    Predesigned siRNA for gene silencing in human, mouse, rat ALG10
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    GenScript: all cDNA clones in your preferred vector: ALG10 (NM_032834)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG10
    Primer
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    OriGene qPCR primer pairs and template standards for ALG10
    OriGene qSTAR qPCR primer pairs in human, mouse for ALG10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG10
      QuantiTect SYBR Green Assays in human, mouse, rat ALG10
      QuantiFast Probe-based Assays in human, mouse, rat ALG10

    Additional mRNA sequence: 

    AJ312278.1 AK027657.1 AK292488.1 BC022336.1 BC033730.1 BC070347.1 BC075807.1 BC090948.1 

    4 DOTS entries:

    DT.121185049  DT.100751545  DT.426737  DT.121185002 

    Selected AceView cDNA sequences (see all 33):

    NM_032834 BX114174 BC070347 BC033730 BC075807 H54044 CR623610 CR600259 
    AL519606 AW303472 BI825977 BG613309 AK027657 AJ312278 BE501018 AL555819 
    AL519605 BI770281 BF059233 BF115523 W31702 BC022336 BE738701 BG256330 

    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™, 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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    ALG10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGTTACTA
    ALG10 Expression
    About this image


    ALG10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Lung (Respiratory System)
    ALG10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.102971
        Custom PCR Arrays for ALG10
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ALG10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG10

    (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 ALG10 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg10b1 , 5 asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase) less5
    asparagine-linked glycosylation 10B (alpha-1,2-glucosyltransferase) less1
    83.44(n)1
    86.26(a)1
      15 (45.07 cM)5
    3809591  NM_001033441.31  NP_001028613.11 
     902243115 
    chicken
    (Gallus gallus)
    Aves ALG101 asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) less 71.2(n)
    68.58(a)
      426734  NM_001031394.1  NP_001026565.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    69(a)
    1 → many
    5(99328812-99340301)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alg101 ALG10, alpha-1,2-glucosyltransferase 66.52(n)
    63.54(a)
      548946  NM_001016192.3  NP_001016192.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003315751 putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase-like less 59.38(n)
    56.26(a)
      100331575  XM_002661466.2  XP_002661512.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Alg101 Alpha 3 glucosyltransferase 45.3(n)
    34.22(a)
      326193  NM_168449.2  NP_729680.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1796
    Protein TAG-179 (tag-179) mRNA, complete cds
    33(a)
    1 → many
    I(9960370-9961973) WBGene00007043
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DIE21 DIE2 46.21(n)
    35.35(a)
      853142   NP_011743.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G024101 AT5G02410 47.4(n)
    35.32(a)
      831764  NM_120319.3  NP_195861.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05037001 Os04g0503700 48.18(n)
    34.31(a)
      4336325  NM_001059777.1  NP_001053242.1 


    ENSEMBL Gene Tree for ALG10 (if available)
    TreeFam Gene Tree for ALG10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALG10 gene
    ALG10B2  
    1 SIMAP similar gene for ALG10 using alignment to 3 protein entries:     AG10A_HUMAN (see all proteins):
    ALG10B

    Find genes that share paralogs with ALG10           About GenesLikeMe



    (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 ALG10 (see all 205)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1892711381,2
    C--34028953(+) TTCATC/TGATTT 1 -- us2k10--------
    rs1809033411,2
    --34028971(+) GTAAAA/TATAAC 1 -- us2k10--------
    rs1424900131,2
    --34028984(+) ACAAAC/TGAGTG 1 -- us2k10--------
    rs1863782421,2
    --34029077(+) ATATGA/GAGATT 1 -- us2k10--------
    rs1903405071,2
    --34029311(+) AGGCTA/GTGAAG 1 -- us2k10--------
    rs578711011,2
    C,F--34029417(+) AACCAA/CCTTCT 1 -- us2k13Minor allele frequency- C:0.11WA CSA 121
    rs1155447611,2
    C,F--34029421(+) AACTTC/GTTTTA 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs1459739141,2
    --34029555(+) CATAAA/GCTATT 1 -- us2k10--------
    rs16870361,2
    C,F--34029579(-) TTTTTC/ATTCAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1813725051,2
    --34029632(+) ACGACC/TCACTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALG10 (34175216 - 34182629 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALG10 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677888CNV Deletion23128226
    esv34883CNV Gain17911159
    nsv520568CNV Gain19592680
    nsv469350CNV Gain19166990
    nsv469348CNV Gain19166990
    nsv527701CNV Gain19592680
    nsv818908CNV Gain17921354
    nsv523443CNV Gain19592680
    essv7210CNV CNV17122850
    dgv497e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG10
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG10

    (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.)
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    OMIM gene information: 603313   
    OMIM disorders: 613688  
    2 diseases for ALG10:    
    About MalaCards
    long qt syndrome, acquired, reduced    long qt syndrome 1


    Find genes that share disorders with ALG10           About GenesLikeMe

    Genetic Association Database (GAD): ALG10
    Human Genome Epidemiology (HuGE) Navigator: ALG10 (1 document)

    Export disorders for ALG10 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 ALG10 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with ALG10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Common origin and evolution of glycosyltransferases using Dol-P- monosaccharides as donor substrate. (PubMed id 12200473)1, 2 Oriol R.... Codogno P. (Mol. Biol. Evol. 2002)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)1 Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)
    9. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
    10. The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. (PubMed id 14525949)1 Kupershmidt S.... Balser J.R. (FASEB J. 2003)

    (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: 84920 HGNC: 23162 AceView: ALG10 Ensembl:ENSG00000139133 euGenes: HUgn84920
    ECgene: ALG10 Kegg: 84920 H-InvDB: ALG10

    (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 ALG10 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG10

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG10 gene:
    Search GeneIP for patents involving ALG10

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



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