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ALG1 Gene

protein-coding   GIFtS: 64
GCID: GC16P005121

ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase

(Previous names: asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-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
ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase1 2     Asparagine-Linked Glycosylation 1, Beta-1,4-Mannosyltransferase Homolog
(S. Cerevisiae)1
HMAT12 3 5     HMT-12
HMT12 3 5     Mat-12
Asparagine-Linked Glycosylation 1 Homolog (Yeast,
Beta-1,4-Mannosyltransferase)1 2
     Asparagine-Linked Glycosylation 1, Beta-1,4-Mannosyltransferase Homolog2
Asparagine-Linked Glycosylation Protein 1 Homolog2 3     Beta-1,4 Mannosyltransferase2
MT-12 3     beta-1,4-mannosyltransferase2
GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase2 3     Chitobiosyldiphosphodolichol Beta-Mannosyltransferase2
GDP-Mannose-Dolichol Diphosphochitobiose Mannosyltransferase2 3     mannosyltransferase-12
hMat-12 3     Beta-1,4-mannosyltransferase3
EC 2.4.1.1423 8     Mannosyltransferase-13
CDG1K2 5     

External Ids:    HGNC: 182941   Entrez Gene: 560522   Ensembl: ENSG000000330117   OMIM: 6059075   UniProtKB: Q9BT223   

Export aliases for ALG1 gene to outside databases

Previous GC identifers: GC16P005122 GC16P005061


(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 ALG1 Gene:
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked
oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. (provided by RefSeq, Dec
2008)

GeneCards Summary for ALG1 Gene:
ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG1 include congenital disorder of glycosylation type 1k, and congenital disorder of glycosylation, type ik. GO annotations related to this gene include mannosyltransferase activity and chitobiosyldiphosphodolichol beta-mannosyltransferase activity. An important paralog of this gene is ALG1L.

UniProtKB/Swiss-Prot: ALG1_HUMAN, Q9BT22
Function: Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation.
Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the
ER

Gene Wiki entry for ALG1 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_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG1 gene promoter:
         STAT5B   STAT4   STAT6   STAT1beta   STAT5A   XBP-1   STAT1alpha   Zic1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG1 promoter sequence
   Search Chromatin IP Primers for ALG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG1


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

ALG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P005121:  view genomic region     (about GC identifiers)

Start:
5,083,703 bp from pter      End:
5,137,380 bp from pter
Size:
53,678 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALG1_HUMAN, Q9BT22 (See protein sequence)
Recommended Name: Chitobiosyldiphosphodolichol beta-mannosyltransferase  
Size: 464 amino acids; 52518 Da
Sequence caution: Sequence=AAQ89432.1; Type=Erroneous initiation;
Secondary accessions: Q6UVZ9 Q8N5Y4 Q9P2Y2

Explore the universe of human proteins at neXtProt for ALG1: NX_Q9BT22

Explore proteomics data for ALG1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys217, Lys223, Lys236
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ALG1 (Q9BT22)
     DEDFSILL  PALLVSST 


    See ALG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061982.3  
    ENSEMBL proteins: 
     ENSP00000468118   ENSP00000262374   ENSP00000467538   ENSP00000467865   ENSP00000464700  
     ENSP00000440019  
    Reactome Protein details: Q9BT22

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT1: Glycosyltransferase group 1 domain containing

    1 InterPro protein domain:
     IPR026051 ALG1-like

    Graphical View of Domain Structure for InterPro Entry Q9BT22

    ProtoNet protein and cluster: Q9BT22

    1 Blocks protein domain: IPB001296 Glycosyl transferase

    UniProtKB/Swiss-Prot: ALG1_HUMAN, Q9BT22
    Similarity: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily


    ALG1 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: ALG1_HUMAN, Q9BT22
    Function: Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation.
    Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the
    ER
    Catalytic activity: GDP-mannose + chitobiosyldiphosphodolichol = GDP +
    beta-1,4-D-mannosylchitobiosyldiphosphodolichol

         Enzyme Number (IUBMB): EC 2.4.1.1421 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity TAS10704531
    GO:0004578chitobiosyldiphosphodolichol beta-mannosyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
         
    ALG1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG1
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    miRNA
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    miRTarBase miRNAs that target ALG1:
    hsa-mir-24-3p (MIRT030572)

    Block miRNA regulation of human, mouse, rat ALG1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ALG1:
    hsa-miR-873 hsa-miR-3153 hsa-miR-3914
    SwitchGear 3'UTR luciferase reporter plasmidALG1 3' UTR sequence
    Inhib. RNA
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    (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
    ALG1_HUMAN, Q9BT22: Endoplasmic reticulum membrane; Single-pass type II membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane2
    extracellular1
    golgi apparatus1
    lysosome1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10704531
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    ALG1 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 ALG1 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 ALG1
        dolichyl-diphosphooligosaccharide biosynthesis


    1 Reactome Pathway for ALG1
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG1):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG1_HUMAN, Q9BT22
    Pathway: Protein modification; protein glycosylation


    ALG1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG1
    Interactions:

        Search GeneGlobe Interaction Network for ALG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for ALG1 (Q9BT223 ENSP000002623744) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GUK1Q167743, ENSP000003176594I2D: score=1 STRING: ENSP00000317659
    GMPPBQ9Y5P63, ENSP000003090924I2D: score=1 STRING: ENSP00000309092
    ALG2Q9H5533, ENSP000004177644I2D: score=2 STRING: ENSP00000417764
    DGCR14Q96DF83I2D: score=5 
    MOCS3O953963I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation TAS10704531
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0009103lipopolysaccharide biosynthetic process TAS10704531
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    ALG1 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 ALG1

    4 HMDB Compounds for ALG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Beta-1,4-D-MannosylchitobiosyldiphosphodolicholMan-beta1->4GlcNAc-beta1->4GlcNAc-PP-Dol (see all 8)----
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine diphosphate mannoseGDP mannose (see all 7)3123-67-9--
    N,N'-DiacetylchitobiosyldiphosphodolicholChitobiosyldiphosphodolichol (see all 2)----

    4 Novoseek inferred chemical compound relationships for ALG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdpmannose 73.6 1 8166646 (1)
    melatonin 65.2 14 10085460 (3), 12764576 (2), 10842331 (1), 14757166 (1) (see all 7)
    gdp 45.6 1 10085460 (1)
    mannose 40.8 1 8166646 (1)



    ALG1 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALG1 gene: 
    NM_019109.4  

    Unigene Cluster for ALG1:

    ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
    Hs.592086  [show with all ESTs]
    Unigene Representative Sequence: NM_019109
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591961 ENST00000588623 ENST00000262374(uc002cyj.3 uc002cym.3 uc010bue.3)
    ENST00000586840 ENST00000592793 ENST00000591822 ENST00000591783 ENST00000544428
    ENST00000592661
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidALG1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ALG1
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    Additional mRNA sequence: 

    AB019038.1 AK075373.1 AK298144.1 AK311475.1 AY359073.1 BC004402.1 BC031095.1 

    14 DOTS entries:

    DT.101959683  DT.450414  DT.120724762  DT.100753178  DT.120724737  DT.95148344  DT.100825780  DT.120724733 
    DT.97809662  DT.120724740  DT.120724771  DT.120724777  DT.95320948  DT.100649176 

    Selected AceView cDNA sequences (see all 242):

    CD110151 AA700910 BM725132 BM801720 BQ688685 BQ935553 H42894 CA495409 
    AI371094 BX459212 BM728596 AI273221 BM856363 CB993327 BX394779 AI802901 
    AL539861 CB158360 CR624559 AA380399 AA680361 BI091303 CR597195 BF438369 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALG1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ALG1

    (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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    ALG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALG1 Expression
    About this image

    ALG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592086
        Custom PCR Arrays for ALG1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG1

    (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 ALG1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg11 , 5 asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)5
    asparagine-linked glycosylation 1 (beta-1,4-mannosyltransferase)1
    82.28(n)1
    80.48(a)1
      16 (2.51 cM)5
    2082111  NM_145362.21  NP_663337.21 
     52336215 
    chicken
    (Gallus gallus)
    Aves ALG11 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase more 65.83(n)
    66.29(a)
      416393  XM_414707.4  XP_414707.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    GL343612.1(276151-295023)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB200226.22   -- 73.12(n)    CB200226.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055554.12   -- 75.9(n)   334161  BC055554.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG180121 CG18012 54.54(n)
    46.95(a)
      42146  NM_142405.2  NP_650662.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T26A5.41 T26A5.4 47.43(n)
    44.5(a)
      175920  NM_066019.6  NP_498420.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG1(YBR110W)4
    ALG11
    Mannosyltransferase, involved in asparagine-linked more4
    ALG11
    44.11(n)1
    39.6(a)1
      2(458872-460221)4
    8524071, 4  NP_009668.31  NP_009668.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G165701 AT1G16570 48.17(n)
    45.2(a)
      838227  NM_101521.3  NP_173105.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01807001 Os03g0180700 50.35(n)
    45.01(a)
      4331831  NM_001055700.1  NP_001049165.1 


    ENSEMBL Gene Tree for ALG1 (if available)
    TreeFam Gene Tree for ALG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALG1 gene
    ALG1L2  
    3 SIMAP similar genes for ALG1 using alignment to 5 protein entries:     ALG1_HUMAN (see all proteins):
    OR7E86P    ALG1L2    ALG1L

    ALG1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for ALG1
    PGOHUM00000250382 PGOHUM00000237751 PGOHUM00000237831 PGOHUM00000249999 PGOHUM00000250021


    (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 ALG1 (see all 553)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083401,2,,4
    CCongenital disorder of glycosylation 1K (CDG1K)4 pathogenic15062186(+) GGAAGC/GAAGCT 2 S R mis10--------
    rs289393781,2,,4
    CCongenital disorder of glycosylation 1K (CDG1K)4 pathogenic15065528(+) GCGGTC/TGGCCT 2 S L mis1 ese31Minor allele frequency- T:0.00NA 3572
    VAR_0233664
    Congenital disorder of glycosylation 1K (CDG1K)4--see VAR_0233662 Q P mis40--------
    rs37600271,2
    C,F,A,H--5057907(-) CTCTGT/CGATGG 1 -- us2k128Minor allele frequency- C:0.24NS EA NA WA CSA 2470
    rs1471911651,2
    C--5058010(+) AATCAC/TGATGG 1 -- us2k10--------
    rs1930630461,2
    --5058083(+) TACACA/CCTGGA 1 -- us2k10--------
    rs22410601,2
    C,F,O,H--5058104(-) CAGCAG/CATTAC 1 -- us2k115Minor allele frequency- C:0.25EA MN NS NA CSA WA 2652
    rs1404411031,2
    --5058232(+) CTCTAC/GAATTC 1 -- us2k10--------
    rs175233101,2
    C,F,H--5058429(+) TACTAC/ATACTA 1 -- us2k118Minor allele frequency- A:0.10EA MN NS NA 2622
    rs1998915521,2
    C--5058606(+) GCTTGA/GTCCTG 2 I V mis10--------

    HapMap Linkage Disequilibrium report for ALG1 (5083703 - 5137380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALG1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422516CNV Deletion17116639
    nsv905254CNV Loss21882294
    nsv1722CNV Loss18451855
    nsv457360CNV Loss19166990
    nsv482189CNV Gain20164927
    nsv817715CNV Gain17921354
    esv25186CNV Gain19812545
    nsv428318CNV Gain18775914
    nsv482188CNV Gain20164927
    esv34300CNV Gain17911159

    Human Gene Mutation Database (HGMD): ALG1
    Locus Specific Mutation Databases (LSDB): ALG1

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605907   
    OMIM disorders: 608540  
    UniProtKB/Swiss-Prot: ALG1_HUMAN, Q9BT22
  • Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]: 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

  • 15 diseases for ALG1:    About MalaCards
    congenital disorder of glycosylation type 1k    congenital disorder of glycosylation, type ik    congenital disorder of glycosylation, type it    congenital disorder of glycosylation
    fukuyama congenital muscular dystrophy    walker-warburg syndrome    hydrops fetalis    congenital muscular dystrophy
    hypotonia    muscular dystrophy    malaria    thyroiditis
    multiple myeloma    myeloma    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ALG1:
    Walker-Warburg syndrome     Congenital disorder of glycosylation

    ALG1 for disorders           About GeneDecksing

    GeneTests: ALG1
    GeneReviews: ALG1
    Genetic Association Database (GAD): ALG1
    Human Genome Epidemiology (HuGE) Navigator: ALG1 (1 document)

    Export disorders for ALG1 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 ALG1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with ALG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1. (PubMed id 10704531)1, 2, 3, 9 Takahashi T.... Nishikawa Y. (Glycobiology 2000)
    2. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. (PubMed id 14709599)1, 2, 9 Grubenmann C.E.... Hennet T. (Hum. Mol. Genet. 2004)
    3. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. (PubMed id 14973782)1, 2, 9 Kranz C.... Marquardt T. (Am. J. Hum. Genet. 2004)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. (PubMed id 14973778)1, 2 Schwarz M.... Koerner C. (Am. J. Hum. Genet. 2004)
    7. 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)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    10. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. (PubMed id 22966035)1 Morava E....Wevers R.A. (Pediatrics 2012)

    (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: 56052 HGNC: 18294 AceView: ALG1andKIAA0420 Ensembl:ENSG00000033011 euGenes: HUgn56052
    ECgene: ALG1 Kegg: 56052 H-InvDB: ALG1

    (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 ALG1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG1 gene:
    Search GeneIP for patents involving ALG1

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



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