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

ALG3 Gene

protein-coding   GIFtS: 59
GCID: GC03M183960

ALG3, alpha-1,3- mannosyltransferase

(Previous names: asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase),...)
 Explore 5 diseases affiliated with
ALG3 via our new
 Human Malady Compendium 
Biological research products
for ALG3
    

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

Aliases
ALG3, Alpha-1,3- Mannosyltransferase1 2     CDG1D2 5
NOT56L1 2 3 5     Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog (S.
Cerevisiae)1
CDGS41 2 5     Asparagine-Linked Glycosylation 3 Homolog (S. Cerevisiae,
Alpha-1,3-Mannosyltransferase)2
D16Ertd36e1 2     Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog2
Not561 2     Carbohydrate Deficient Glycoprotein Syndrome Type IV2
Asparagine-Linked Glycosylation 3 Homolog (Yeast,
Alpha-1,3-Mannosyltransferase)1 2
     Dol-P-Man Dependent Alpha(1-3)-Mannosyltransferase2
Asparagine-Linked Glycosylation Protein 3 Homolog2 3     Dol-P-Man Dependent Alpha-1,3- Mannosyltransferase2
Dol-P-Man-Dependent Alpha(1-3)-Mannosyltransferase2 3     Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase2
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-Dolichyl Mannosyltransferase2 3     EC 2.4.1.2583
Dolichyl-Phosphate-Mannose--Glycolipid Alpha-Mannosyltransferase2 3     NOT3
Not56-Like Protein2 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALG3:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALG3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92685

  • 4 DME Specific Peptides for ALG3 (Q92685)
     VLRLFND  RSLHYQF  WTVNWRF  TGPLVYP 

    ALG3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals ALG3 Protein
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    Uscn Proteins for ALG3

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

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


    ALG3 for ontologies           About GeneDecksing



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

    ALG3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007873 Glycosyltransferase_ALG3

    Graphical View of Domain Structure for InterPro Entry Q92685

    ProtoNet protein and cluster: Q92685

    1 Blocks protein family: IPB007873 ALG3

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    miRTarBase miRNAs that target ALG3:
    hsa-let-7b (MIRT005225), hsa-mir-16 (MIRT005258)

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


    1 GenomeRNAi human phenotype for ALG3:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Post-translational protein modification0.44
    N-Glycan biosynthesis0.52
    Metabolism of proteins0.15
    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 protein1.00
    dolichyl-diphosphooligosaccharide biosynthesis0.33
    3Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ALG3 
        dolichyl-diphosphooligosaccharide biosynthesis

    4        Reactome Pathways for ALG3
        Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG3

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

    5/48 Interacting proteins for ALG3 (Q926853 ENSP000003807934) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

    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): 5 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALG3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about ALG3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALG3 gene (3 alternative transcripts): 
    NM_001006941.2  NM_005787.5  NM_001006940.1  

    Unigene Cluster for ALG3:

    Asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)
    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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    Inhib. RNA
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    Additional cDNA 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 

    24/269 AceView cDNA sequences (see all 269):

    AI081403 CR619480 BQ184771 AL555582 BQ927823 BM557180 BM763044 BG750859 
    CR596636 BI223346 NM_005787 BG284392 BE313598 BI226899 BU552851 CR620912 
    BE251285 BE313728 BE273591 BM920198 BU540730 AI313444 BU543950 BQ958872 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALG3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGTCATCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ALG3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG3

    SOURCE GeneReport for Unigene cluster: Hs.478481
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG3 gene from 9/29 species (see all 29)    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 74.07(n)
    73.58(a)
      424952  XM_422759.3  XP_422759.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALG36
    --
    71(a)
    1 ↔ 1
    GL343245.1(631503-639595)
    zebrafish
    (Danio rerio)
    Actinopterygii alg31 asparagine-linked glycosylation 3 homolog (S. cerevisiae, more 64.11(n)
    66.59(a)
      553725  NM_001020696.1  NP_001018532.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)not1 lethal (2) neighbor of tid 59.98(n)
    56.45(a)
      37754  NM_079105.3  NP_523829.2 
    worm
    (Caenorhabditis elegans)
    Secernentea K09E4.21 Protein K09E4.2 53.58(n)
    51.08(a)
      175065  NM_064549.4  NP_496950.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG31 Alg3p 48.02(n)
    38.14(a)
      852196   NP_009471.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALG31 alpha-1,3-mannosyltransferase 50.13(n)
    48.04(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)
    About This Section
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/119 NCBI SNPs in ALG3 are shown (see all 119    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405881,2
    Cpathogenic201487744(-) CCGAGG/ACACTG 6 /D /G nc-transcript-variantmis11Minor allele frequency- A:0.00NA 2
    rs617405441,2
    F,--181366633(+) GAACTG/AACAGC 4 -- ds50012Minor allele frequency- A:0.02NS CSA 80
    rs29420491,2
    H--181366850(+) CACTGT/CCGCCC 4 -- ds50013Minor allele frequency- C:0.00EA NS 288
    rs798861611,2
    F,--181366928(+) CCTCCC/TTAGAG 4 -- ds50011Minor allele frequency- T:0.09NA 120
    rs17096601,2
    C,H--181367008(+) TCCATC/ACTCTG 4 -- ds50015Minor allele frequency- A:0.00MN EA NS NA 484
    rs738874201,2
    C,--181367851(+) ATTAAC/TCTCTC 4 -- int12Minor allele frequency- T:0.06WA 120
    rs768119961,2
    F,--181368006(+) AAAATG/AAGAAT 4 -- int11Minor allele frequency- A:0.03NA 120
    rs68066271,2
    C,F,--181368123(+) TAGCTC/TGTATT 4 -- int11Minor allele frequency- T:0.13WA 118
    rs22334681,2
    C--181368375(-) GAAAGC/TATCTT 6 S syn10--------
    rs16872191,2
    H--181368585(-) ACCTCA/CCCCTG 6 T P mis14Minor allele frequency- C:0.00MN EA NS 474

    HapMap Linkage Disequilibrium report for ALG3 (183960089 - 183967336 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ALG3
         1 CNV: 4364
    Human Gene Mutation Database (HGMD): ALG3

    Locus Specific Mutation Databases (LSDB): ALG3

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG3
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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.)
    About This Section

    ALG3 for disorders           About GeneDecksing

    OMIM gene information: 608750   
    OMIM disorders: 601110  
    UniProtKB/Swiss-Prot: ALG3_HUMAN, Q92685
  • Defects in ALG3 are the cause of congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]; also known
  • as carbohydrate-deficient glycoprotein syndrome type IV (CDGS4). CDGs are metabolic deficiencies in glycoprotein
    biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by
    under-glycosylated serum glycoproteins

    5 diseases for ALG3:    About MalaCards
    congenital disorder of glycosylation    congenital disorder of glycosylation type 1d    hyperinsulinemic hypoglycemia    hypoglycemia
    microcephaly

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

    1 Novoseek 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
    Congenital Disorders of Glycosylation


    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)
    About This Section

    PubMed articles for ALG3 gene, integrated from 9 sources (see all 27):
    (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. (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. (2004)
    3. Will an electric current replace the syringe for anesthesia? (PubMed id 1058125)1, 3 Jerrold L.E. (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. (2004)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. A mega-analysis of genome-wide association studies for major depressive disorder. (PubMed id 22472876)1 (2012)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10195 HGNC: 23056 AceView: ALG3 Ensembl:ENSG00000214160 euGenes: HUgn10195
    ECgene: ALG3 Kegg: 10195 H-InvDB: ALG3

    (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 ALG3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG3
    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 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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