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

ALG6 Gene

protein-coding   GIFtS: 62
GCID: GC01P063834

ALG6, Alpha-1,3-Glucosyltransferase

(Previous names: asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase),...)
  See related diseases
at  

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

Aliases
ALG6, Alpha-1,3-Glucosyltransferase1 2     Asparagine-Linked Glycosylation 6 Homolog (S. Cerevisiae,
Alpha-1,3-Glucosyltransferase)2
Asparagine-Linked Glycosylation 6 Homolog (Yeast,
Alpha-1,3-Glucosyltransferase)1 2
     Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog2
Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-Dolichol Alpha- 1->3-Glucosyltransferase1 2     Dolichyl Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase2
Asparagine-Linked Glycosylation Protein 6 Homolog2 3     dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase2
Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase2 3     Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase2
Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichyl Glucosyltransferase2 3     EC 2.4.1.2673
CDG1C2 5     EC 2.4.18
Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog
(S. Cerevisiae)1
     

External Ids:    HGNC: 231571   Entrez Gene: 299292   Ensembl: ENSG000000880357   OMIM: 6045665   UniProtKB: Q9Y6723   

Export aliases for ALG6 gene to outside databases

Previous GC identifers: GC01P063768 GC01P062756 GC01P063191 GC01P063203 GC01P063545 GC01P063605 GC01P061941


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

Entrez Gene summary for ALG6 Gene:
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition
of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation.
Mutations in this gene are associated with congenital disorders of glycosylation type Ic. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ALG6 Gene: 
ALG6 (ALG6, alpha-1,3-glucosyltransferase) is a protein-coding gene. Diseases associated with ALG6 include congenital disorder of glycosylation type 1c, and pseudotumor cerebri, and among its related super-pathways are WNT ligand biogenesis and trafficking and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include glucosyltransferase activity.

UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
Function: Adds the first 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
Man(9)GlcNAc(2)-PP-Dol

Gene Wiki entry for ALG6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALG6 gene promoter:
         TBP   E2F-3a   E2F-4   E2F-5   E2F-2   Nkx2-5   POU3F2   E2F-1   E2F   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALG6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG6


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

ALG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P063834:  view genomic region     (about GC identifiers)

Start:
63,833,261 bp from pter      End:
63,904,233 bp from pter
Size:
70,973 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672 (See protein sequence)
Recommended Name: Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase  
Size: 507 amino acids; 58181 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B3KMU2 Q5SXR9 Q9H3I0

Explore the universe of human proteins at neXtProt for ALG6: NX_Q9Y672

Explore proteomics data for ALG6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y672

  • 4/10 DME Specific Peptides for ALG6 (Q9Y672) (see all 10)
     NYKQMELYH  HKLFMRTTV  LTVRWTVSL  SYSGAGKPPM 

    ALG6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALG6 Protein Expression
    REFSEQ proteins: NP_037471.2  
    ENSEMBL proteins: 
     ENSP00000360149   ENSP00000473328   ENSP00000473934   ENSP00000263440  
    Reactome Protein details: Q9Y672
    Human Recombinant Protein Products for ALG6: 
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    Cloud-Clone Corp. Proteins for ALG6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    ALG6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004856 Glyco_trans_ALG6/ALG8

    Graphical View of Domain Structure for InterPro Entry Q9Y672

    ProtoNet protein and cluster: Q9Y672

    1 Blocks protein domain: IPB004856 ALG6

    UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
    Similarity: Belongs to the ALG6/ALG8 glucosyltransferase family


    ALG6 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG6_HUMAN, Q9Y672
    Function: Adds the first 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
    Man(9)GlcNAc(2)-PP-Dol
    Catalytic activity: Dolichyl beta-D-glucosyl phosphate +
    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->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 2.4.1.2671

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0046527glucosyltransferase activity IDA10359825
         
    ALG6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ALG6:
     Decreased Salmonella enterica  

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidALG6 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALG6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    N-Glycan biosynthesis0.52
    WNT ligand biogenesis and trafficking0.77
    Post-translational protein modification0.44
    Signaling by Wnt0.62
    Metabolism of proteins0.35
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.53
    dolichyl-diphosphooligosaccharide biosynthesis0.30
    3Signaling by GPCR
    Signal Transduction0.55
    4Metabolism
    Metabolic pathways0.40
    5GPCRs, Other
    GPCRs, Other

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ALG6
        GPCRs, Other
    dolichyl-diphosphooligosaccharide biosynthesis

    5/7        Reactome Pathways for ALG6 (see all 7)
        Signaling by Wnt
    Asparagine N-linked glycosylation
    Signal Transduction
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for ALG6):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
    Pathway: Protein modification; protein glycosylation


    ALG6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG6

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

    5/63 Interacting proteins for ALG6 (Q9Y6723 ENSP000003601494) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG12Q9BV103, ENSP000003338134I2D: score=1 STRING: ENSP00000333813
    ALG3Q926853, ENSP000003807934I2D: score=1 STRING: ENSP00000380793
    ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
    ALG8Q9BVK23, ENSP000002996264I2D: score=1 STRING: ENSP00000299626
    AP3D1O146173, ENSP000003440554I2D: score=1 STRING: ENSP00000344055
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation IGI10359825
    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--

    ALG6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALG6

    1 HMDB Compound for ALG6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichyl b-D-glucosyl phosphateDolichol monophosphate glucose (see all 10)220496-27-5--

    Search CenterWatch for drugs/clinical trials and news about ALG6

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

    REFSEQ mRNAs for ALG6 gene: 
    NM_013339.3  

    Unigene Cluster for ALG6:

    ALG6, alpha-1,3-glucosyltransferase
    Hs.258501  [show with all ESTs]
    Unigene Representative Sequence: NM_013339
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371108(uc021oof.1 uc010oox.2) ENST00000487136 ENST00000603108
    ENST00000263440 ENST00000465969 ENST00000462390 ENST00000494765
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    Additional mRNA sequence: 

    AF063604.2 AF102851.1 AK022700.1 AK295286.1 BC001253.1 

    7 DOTS entries:

    DT.407208  DT.40258656  DT.70101444  DT.121395672  DT.95188320  DT.95366878  DT.100653167 

    24/76 AceView cDNA sequences (see all 76):

    CR602025 CB215801 AW403508 BM727901 AW002649 BU193408 AA877322 AU280221 
    AL525016 AW438880 CR618543 BC001253 CA455164 AL561062 BX483687 BE221343 
    BX385082 AI151466 AI670122 AI633803 AA910174 AI422330 NM_013339 CB104884 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ALG6    About this scheme

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


    ECgene alternative splicing isoforms for ALG6

    (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

    ALG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACCACAGG
    ALG6 Expression
    About this image


    See ALG6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG6

    SOURCE GeneReport for Unigene cluster: Hs.258501
        SABiosciences Custom PCR Arrays for ALG6
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG6 gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg61 , 5 asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)5
    asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)1
    85.64(n)1
    84.58(a)1
      4 (45.71 cM)5
    3204381  NM_001081264.11  NP_001074733.11 
     997156645 
    chicken
    (Gallus gallus)
    Aves ALG61 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase more 74.88(n)
    75.35(a)
      395078  NM_204435.1  NP_989766.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG66
    Uncharacterized protein
    72(a)
    1 ↔ 1
    4(99309556-99358749)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.27392 Xenopus laevis transcribed sequence with moderate similarity more 77.19(n)    CA985768.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alg61 asparagine-linked glycosylation 6 homolog (S. cerevisiae, more 62.24(n)
    61.31(a)
      445327  NM_001003784.2  NP_001003784.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50913
    gny1
    N-linked glycosylation dolichyl
    pyrophosphate more3
    garnysstan1
    44(a)3
    50.29(n)1
    46.49(a)1
      31D113
    344091  NM_135549.31  NP_609393.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C08B11.81 , 3 Protein C08B11.81 36(a)3
    50.45(n)1
    42.6(a)1
      II(8039932-8041639)3
    1823921  NM_063284.11  NP_495685.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG6(YOR002W)4
    ALG61
    Alpha 1,3 glucosyltransferase, involved in transfer more4
    Alg6p1
    47.19(n)1
    38.07(a)1
      15(329417-331051)4
    8541631, 4  NP_014644.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G384601 alpha-1,3-glucosyltransferase 49.46(n)
    41.51(a)
      833834  NM_001203505.1  NP_001190434.1 


    ENSEMBL Gene Tree for ALG6 (if available)
    TreeFam Gene Tree for ALG6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

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

    10/1442 SNPs in ALG6 are shown (see all 1442)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0225134
    Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225132 G E mis40--------
    VAR_0134434
    Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0134432 A V mis40--------
    VAR_0225144
    Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225142 S R mis40--------
    VAR_0134444
    Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0134442 S P mis40--------
    VAR_0225124
    Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225122 S I mis40--------
    rs353831491,2,4
    C,FCongenital disorder of glycosylation 1C (CDG1C)4 --63945380(-) ACAGTA/GCAAAA 2 H Y mis15Minor allele frequency- G:0.02NA EU 6067
    rs1219084431,2
    Cpathogenic163958399(+) CTGTGC/TGCTAT 2 A V mis10--------
    rs112081961,2
    C,A--61947532(+) tttaCT/Attttt 1 -- int11Minor allele frequency- A:0.00WA 2
    rs1413362391,2
    C--61959713(+) GGCAT-/TTCTCTTT 1 -- cds10--------
    rs1115533521,2
    C--61960103(+) TGTAGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for ALG6 (63833261 - 63904233 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ALG6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1543308CNV Deletion17803354
    nsv871017CNV Loss21882294
    nsv1132CNV Loss18451855
    nsv461672CNV Gain19166990
    nsv470714CNV Gain18288195


    Human Gene Mutation Database (HGMD): ALG6

    Locus Specific Mutation Databases (LSDB): ALG6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG6
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604566   
    OMIM disorders: 603147  
    UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
  • Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 7 diseases for ALG6:    About MalaCards
    congenital disorder of glycosylation type 1c    pseudotumor cerebri    protein-losing enteropathy    congenital disorder of glycosylation
    skeletal dysplasias    hypotonia    mental retardation

    1 disease from the University of Copenhagen DISEASES database for ALG6:
    Congenital disorder of glycosylation

    ALG6 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ALG6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 89.8 4 11558905 (1), 12855228 (1), 11106564 (1), 20447155 (1)
    carbohydrate-deficient glycoprotein syndrome 83.9 1 10359825 (1)

    GeneTests: ALG6
    GeneReviews: ALG6

    Export disorders for ALG6 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 ALG6 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with ALG6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. (PubMed id 10359825)1, 2, 3, 9 Imbach T....Hennet T. (1999)
    2. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (PubMed id 11875054)1, 2, 3 Westphal V....Freeze H.H. (2002)
    3. Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PubMed id 10914684)1, 2, 9 Imbach T.... Hennet T. (2000)
    4. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PubMed id 12357336)1, 2, 9 Schollen E.... Matthijs G. (2002)
    5. The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. (PubMed id 11558905)1, 2, 9 Vuillaumier-Barrot S.... Seta N. (2001)
    6. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (PubMed id 11106564)1, 2, 9 Westphal V....Freeze H.H. (2000)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic. (PubMed id 14517965)1, 2 Westphal V.... Freeze H.H. (2003)

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

      Query String
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    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: 29929 HGNC: 23157 AceView: ALG6 Ensembl:ENSG00000088035 euGenes: HUgn29929
    ECgene: ALG6 Kegg: 29929 H-InvDB: ALG6

    (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 ALG6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG6
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALG6 gene:
    Search GeneIP for patents involving ALG6

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



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