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ALG3 Gene

protein-coding   GIFtS: 58
GCID: GC03M183960

ALG3, Alpha-1,3- Mannosyltransferase

(Previous names: asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase),...)
  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
ALG3, Alpha-1,3- Mannosyltransferase1 2     Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog
(S. Cerevisiae)1
NOT56L2 3 5     Dol-P-Man Dependent Alpha-11
Asparagine-Linked Glycosylation 3 Homolog (Yeast,
Alpha-1,3-Mannosyltransferase)1 2
     Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol Alpha-11
Carbohydrate Deficient Glycoprotein Syndrome Type IV1 2     D16Ertd36e2
Asparagine-Linked Glycosylation Protein 3 Homolog2 3     Not562
Dol-P-Man-Dependent Alpha(1-3)-Mannosyltransferase2 3     Asparagine-Linked Glycosylation 3 Homolog (S. Cerevisiae,
Alpha-1,3-Mannosyltransferase)2
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-Dolichyl Mannosyltransferase2 3     Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog2
Dolichyl-Phosphate-Mannose--Glycolipid Alpha-Mannosyltransferase2 3     Dol-P-Man Dependent Alpha(1-3)-Mannosyltransferase2
Not56-Like Protein2 3     Dol-P-Man Dependent Alpha-1,3- Mannosyltransferase2
CDG1D2 5     Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase2
CDGS42 5     EC 2.4.1.2583
3- Mannosyltransferase1     NOT3
3-mannosyltransferase1     EC 2.4.1.1308

External Ids:    HGNC: 230561   Entrez Gene: 101952   Ensembl: ENSG000002141607   OMIM: 6087505   UniProtKB: Q926853   

Export aliases for ALG3 gene to outside databases

Previous GC identifers: GC03M185281 GC03M185442 GC03M181367


(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 ALG3 Gene:
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man
derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with
congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2008)

GeneCards Summary for ALG3 Gene:
ALG3 (ALG3, alpha-1,3- mannosyltransferase) is a protein-coding gene. Diseases associated with ALG3 include congenital disorder of glycosylation type 1d, and congenital disorder of glycosylation. GO annotations related to this gene include alpha-1,3-mannosyltransferase activity and dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685
Function: Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol

Gene Wiki entry for ALG3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG3 gene promoter:
         E2F-3a   E2F-4   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ALG3 promoter sequence
   Search Chromatin IP Primers for ALG3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG3


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

Entrez Gene cytogenetic band: 3q27.1   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.3

ALG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M183960:  view genomic region     (about GC identifiers)

Start:
183,960,089 bp from pter      End:
183,967,336 bp from pter
Size:
7,248 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685 (See protein sequence)
Recommended Name: Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase  
Size: 438 amino acids; 50126 Da
Secondary accessions: A8JZZ6 Q9BT71
Alternative splicing: 2 isoforms:  Q92685-1   Q92685-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALG3: NX_Q92685

Explore proteomics data for ALG3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for ALG3 (Q92685)
     VLRLFND  RSLHYQF  WTVNWRF  TGPLVYP 


    See ALG3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001006942.1  NP_005778.1  

    ENSEMBL proteins: 
     ENSP00000394917   ENSP00000380793   ENSP00000402744   ENSP00000397613   ENSP00000397326  
     ENSP00000392209   ENSP00000407011   ENSP00000402976  
    Reactome Protein details: Q92685

    ALG3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ALG3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

    1 InterPro protein domain:
     IPR007873 Glycosyltransferase_ALG3

    Graphical View of Domain Structure for InterPro Entry Q92685

    ProtoNet protein and cluster: Q92685

    1 Blocks protein domain: IPB007873 ALG3

    UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685
    Similarity: Belongs to the glycosyltransferase 58 family


    ALG3 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: ALG3_HUMAN, Q92685
    Function: Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol
    Catalytic activity: Dolichyl beta-D-mannosyl phosphate +
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    =
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate

         Enzyme Numbers (IUBMB): EC 2.4.1.2581 EC 2.4.1.1302

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000033alpha-1,3-mannosyltransferase activity IDA10581255
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0052925dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity IEA--
         
    ALG3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ALG3:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG3
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    miRNA
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    miRTarBase miRNAs that target ALG3:
    hsa-mir-222-3p (MIRT046832), hsa-mir-26b-5p (MIRT028778), hsa-mir-98-5p (MIRT027484), hsa-mir-7-5p (MIRT025687), hsa-let-7b-5p (MIRT005225), hsa-mir-16-5p (MIRT005258), hsa-mir-1 (MIRT023511), hsa-mir-100-5p (MIRT048444)

    Block miRNA regulation of human, mouse, rat ALG3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALG3
    SwitchGear 3'UTR luciferase reporter plasmidALG3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ALG3 (NM_005787)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG3


    (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
    ALG3_HUMAN, Q92685: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus3
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    ALG3 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 ALG3 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
    dolichyl-diphosphooligosaccharide biosynthesis0.00
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ALG3
        dolichyl-diphosphooligosaccharide biosynthesis

    1 Reactome Pathway for ALG3
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG3):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685
    Pathway: Protein modification; protein glycosylation


    ALG3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG3
    Interactions:

        Search GeneGlobe Interaction Network for ALG3

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

    Selected Interacting proteins for ALG3 (Q926853 ENSP000003807934) via UniProtKB, MINT, STRING, and/or I2D (see all 77)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLR2IP369543, ENSP000002218594I2D: score=3 STRING: ENSP00000221859
    DDOSTP396563, ENSP000003641884I2D: score=2 STRING: ENSP00000364188
    ALG12Q9BV103, ENSP000003338134I2D: score=1 STRING: ENSP00000333813
    ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
    ALG8Q9BVK23, ENSP000002996264I2D: score=1 STRING: ENSP00000299626
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation NAS10581255
    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--

    ALG3 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 

    Browse Tocris compounds for ALG3

    1 HMDB Compound for ALG3    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-MannoseDL-mannose (see all 13)3458-28-4--

    1 Novoseek inferred chemical compound relationship for ALG3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    man5glcnac2-p-p-dolichol 96.2 1 2005096 (1)



    ALG3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 ALG3 gene (3 alternative transcripts): 
    NM_001006941.2  NM_005787.5  NM_001006940.1  

    Unigene Cluster for ALG3:

    ALG3, alpha-1,3- mannosyltransferase
    Hs.478481  [show with all ESTs]
    Unigene Representative Sequence: NM_001006941
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411922 ENST00000397676(uc003fne.2 uc011brc.1 uc011brd.1)
    ENST00000445626(uc011bre.1) ENST00000485912 ENST00000455059 ENST00000446569
    ENST00000414845 ENST00000463495 ENST00000462735 ENST00000423996 ENST00000477959
    ENST00000461415 ENST00000488976(uc011brf.1) ENST00000482048 ENST00000418734

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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat ALG3

    Additional mRNA sequence: 

    AK289361.1 AK299575.1 BC002839.2 BC004313.1 BC021062.1 NR_024533.1 NR_024534.1 Y09022.1 

    11 DOTS entries:

    DT.412755  DT.95365865  DT.100807677  DT.95365868  DT.91756953  DT.40261099  DT.95365861  DT.40263277 
    DT.95365856  DT.95365853  DT.95365866 

    Selected AceView cDNA sequences (see all 269):

    BX340495 CR596636 NM_005787 BU189382 BI226899 BM480352 BE273591 BQ958872 
    BE251285 BM717577 BM763044 BX353983 BU623538 CA488300 BU543950 CR620598 
    CR616285 BG750859 BI259077 BI195605 BU552851 BI223346 AW513290 BC002839 

    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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    ALG3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGTCATCCT
    ALG3 Expression
    About this image

    ALG3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478481
        Custom PCR Arrays for ALG3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG3

    (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 ALG3 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg31 , 5 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)5
    asparagine-linked glycosylation 3 (alpha-1,3-mannosyltransferase)1
    86.76(n)1
    88.81(a)1
      16 (12.48 cM)5
    2086241  NM_145939.21  NP_666051.21 
     206054515 
    chicken
    (Gallus gallus)
    Aves ALG31 asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase more 74.06(n)
    73.4(a)
      424952  XM_422759.4  XP_422759.4 
    lizard
    (Anolis carolinensis)
    Reptilia ALG36
    ALG3, alpha-1,3- mannosyltransferase
    71(a)
    1 ↔ 1
    GL343245.1(631503-639595)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alg31 ALG3, alpha-1,3- mannosyltransferase 64.9(n)
    66.51(a)
      100127746  NM_001113083.1  NP_001106554.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alg31 asparagine-linked glycosylation 3 homolog (S. cerevisiae, more 64.04(n)
    66.59(a)
      553725  NM_001020696.1  NP_001018532.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)not1 lethal (2) neighbor of tid 59.22(n)
    55.01(a)
      37754  NM_079105.3  NP_523829.2 
    worm
    (Caenorhabditis elegans)
    Secernentea K09E4.21 K09E4.2 53.96(n)
    51.62(a)
      175065  NM_001267489.1  NP_001254418.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG31 ALG3 48.39(n)
    38.9(a)
      852196   NP_009471.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALG31 ALG3 50.33(n)
    47.76(a)
      819388  NM_130343.3  NP_182297.1 
    rice
    (Oryza sativa)
    Liliopsida Os.161842 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.85(n)    AK068405.1 


    ENSEMBL Gene Tree for ALG3 (if available)
    TreeFam Gene Tree for ALG3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALG3 gene

    ALG3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ALG3
    PGOHUM00000235111


    (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 ALG3 (see all 284)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405881,2,,4
    CCongenital disorder of glycosylation 1D (CDG1D)4 pathogenic1183829469(-) CCGAGA/GCACTG 6 D G mis10--------
    VAR_0378064
    Congenital disorder of glycosylation 1D (CDG1D)4--see VAR_0378062 R Q mis40--------
    rs1191032361,2
    Cpathogenic1183829201(-) GCTGCA/GGCTCT 6 Q R mis10--------
    rs1113893901,2
    C--181375863(+) AAAAG-/AAAAGA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1474091441,2
    --183825761(+) ATGCGC/GCGCTG 4 -- ds50010--------
    rs617405441,2
    F--183825786(+) GAACTG/AACAGC 4 -- ds50012Minor allele frequency- A:0.02NS CSA 80
    rs1846303851,2
    --183825832(+) TGCCTG/TACGGC 4 -- ds50010--------
    rs29420491,2
    H--183826003(+) CACTGT/CCGCCC 4 -- ds50013Minor allele frequency- C:0.00EA NS 288
    rs775498121,2
    F--183826005(+) CTGCCA/GCCCAG 4 -- ds50010--------
    rs1807290551,2
    C--183826022(+) CCTCTC/TGGTGC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for ALG3 (183960089 - 183967336 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ALG3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv878060CNV Loss21882294
    dgv5354n71CNV Loss21882294
    nsv829812CNV Loss17160897
    nsv528639CNV Loss19592680
    nsv878057CNV Loss21882294

    Human Gene Mutation Database (HGMD): ALG3
    Locus Specific Mutation Databases (LSDB): ALG3

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608750   
    OMIM disorders: 601110  
    UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685
  • Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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

  • 10 diseases for ALG3:    
    About MalaCards
    congenital disorder of glycosylation type 1d    congenital disorder of glycosylation    hyperinsulinemic hypoglycemia    congenital disorder of glycosylation, type it
    hypoglycemia    major depressive disorder    microcephaly    malaria
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for ALG3:
    Congenital disorder of glycosylation     Microcephaly

    ALG3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ALG3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 81.7 2 16053906 (1), 15108280 (1)

    GeneTests: ALG3
    GeneReviews: ALG3

    Export disorders for ALG3 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 ALG3 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with ALG3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. (PubMed id 10581255)1, 2, 9 Koerner C....von Figura K. (EMBO J. 1999)
    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. Will an electric current replace the syringe for anesthesia? (PubMed id 1058125)1, 3 Jerrold L.E. (Dent Stud 1975)
    4. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). (PubMed id 15108280)1, 9 Denecke J....Marquardt T. (Hum. Mutat. 2004)
    5. ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. (PubMed id 23791010)1 Riess S....Yaplito-Lee J. (Mol. Genet. Metab. 2013)
    6. A mega-analysis of genome-wide association studies for major depressive disorder. (PubMed id 22472876)1  ....Sullivan P.F. (Mol. Psychiatry 2013)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. 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)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10195 HGNC: 23056 AceView: ALG3 Ensembl:ENSG00000214160 euGenes: HUgn10195
    ECgene: ALG3 Kegg: 10195 H-InvDB: ALG3

    (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 ALG3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG3[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG3 gene:
    Search GeneIP for patents involving ALG3

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



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