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ALG11 Gene

protein-coding   GIFtS: 51
GCID: GC13P052587

ALG11, Alpha-1,2-Mannosyltransferase

(Previous names: asparagine-linked glycosylation 11 homolog (S. cerevisiae,...)
  See ALG11-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
ALG11, Alpha-1,2-Mannosyltransferase1 2     GDP-Man:Man(3)GlcNAc(2)-PP-Dolichol Alpha-11
Asparagine-Linked Glycosylation Protein 11 Homolog2 3     Asparagine-Linked Glycosylation 11, Alpha-1,2-Mannosyltransferase Homolog2
Glycolipid 2-Alpha-Mannosyltransferase2 3     GDP-Man:Man(3)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2
GT82 3     GDP-Man:Man(3)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2
CDG1P2 5     EC 2.4.1.1313
2-mannosyltransferase1     KIAA12665
Asparagine-Linked Glycosylation 11 Homolog (S. Cerevisiae,
Alpha-1,2-Mannosyltransferase)1
     EC 2.4.18
Asparagine-Linked Glycosylation 11, Alpha-1,2-Mannosyltransferase Homolog
(Yeast)1
     

External Ids:    HGNC: 324561   Entrez Gene: 4401382   Ensembl: ENSG000002537107   OMIM: 6136665   UniProtKB: Q2TAA53   

Export aliases for ALG11 gene to outside databases

Previous GC identifers: GC13P051485 GC13P033375


(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 ALG11 Gene:
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the
cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose
residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the
production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of
glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar
ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the
GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. (provided by
RefSeq, Aug 2010)

GeneCards Summary for ALG11 Gene:
ALG11 (ALG11, alpha-1,2-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG11 include congenital disorder of glycosylation, type ip, and congenital disorder of glycosylation. GO annotations related to this gene include GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG11_HUMAN, Q2TAA5
Function: Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core
oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th
mannose residues to the dolichol-linked oligosaccharide chain

Gene Wiki entry for ALG11 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 at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG11 gene promoter:
         HOXA3   Sp1   STAT3   FOXO1a   STAT5A   FOXO1   C/EBPalpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG11 promoter sequence
   Search Chromatin IP Primers for ALG11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG11


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

Entrez Gene cytogenetic band: 13q14.2   Ensembl cytogenetic band:  13q14.3   HGNC cytogenetic band: 13q14.3

ALG11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG11 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P052587:  view genomic region     (about GC identifiers)

Start:
52,586,523 bp from pter      End:
52,603,800 bp from pter
Size:
17,278 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALG11_HUMAN, Q2TAA5 (See protein sequence)
Recommended Name: GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase  
Size: 492 amino acids; 55651 Da
Sequence caution: Sequence=AAI11023.1; Type=Frameshift; Positions=16;
Secondary accessions: A5PLP3 B4DKW9 Q5TAN9 Q6DKI6 Q96FI7

Explore the universe of human proteins at neXtProt for ALG11: NX_Q2TAA5

Explore proteomics data for ALG11 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn257, Asn273
  • 3 DME Specific Peptides for ALG11 (Q2TAA5)
     MWNEHFGI  CNAGGGGE  GGGGERVLW 


    See ALG11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001004127.2  
    ENSEMBL proteins: 
     ENSP00000429497   ENSP00000430236  
    Reactome Protein details: Q2TAA5

    ALG11 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ALG11

     
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    LSBio Antibodies in human, mouse, rat for ALG11

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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:
     IPR001296 Glyco_trans_1

    Graphical View of Domain Structure for InterPro Entry Q2TAA5

    ProtoNet protein and cluster: Q2TAA5

    2 Blocks protein domains:
    IPB000595 Cyclic nucleotide-binding domain
    IPB001296 Glycosyl transferase


    UniProtKB/Swiss-Prot: ALG11_HUMAN, Q2TAA5
    Similarity: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily


    Find genes that share domains with ALG11           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG11_HUMAN, Q2TAA5
    Function: Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core
    oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th
    mannose residues to the dolichol-linked oligosaccharide chain
    Catalytic activity: 2 GDP-alpha-D-mannose +
    D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = 2 GDP
    +
    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

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.1311

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004377GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity IEA--
         
    Find genes that share ontologies with ALG11           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG11
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    1 qRT-PCR Assays for microRNA that regulate ALG11:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidALG11 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ALG11 (NM_001004127)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG11
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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
    ALG11_HUMAN, Q2TAA5: Endoplasmic reticulum. Endoplasmic reticulum membrane; Multi-pass membrane protein
    (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus3
    cytosol2

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

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

    Find genes that share ontologies with ALG11           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALG11 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ALG11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ALG11
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG11):
        N-Glycan biosynthesis
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG11
    Interactions:

        Search GeneGlobe Interaction Network for ALG11

    Selected Interacting proteins for ALG11 (Q2TAA53) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG1Q9BT223I2D: score=2 
    ALG2Q9H5533I2D: score=1 
    ALG3Q926853I2D: score=1 
    ATP13A1Q9HD203I2D: score=1 
    CYB5R2Q6BCY43I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with ALG11           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALG11



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALG11 gene: 
    NM_001004127.2  

    Unigene Cluster for ALG11:

    ALG11, alpha-1,2-mannosyltransferase
    Hs.512963  [show with all ESTs]
    Unigene Representative Sequence: D87455
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523764(uc001vfz.2) ENST00000521508 ENST00000519151
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ALG11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ALG11:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidALG11 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ALG11
    Predesigned siRNA for gene silencing in human, mouse, rat ALG11
    Clone
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    OriGene ORF clones in mouse, rat for ALG11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALG11 (NM_001004127)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG11
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG11
      QuantiTect SYBR Green Assays in human, mouse, rat ALG11
      QuantiFast Probe-based Assays in human, mouse, rat ALG11

    Additional mRNA sequence: 

    AK025456.1 AK296747.1 BC010857.2 BC073862.1 BC089407.1 BC108677.1 BC111022.1 BC122536.1 
    BC142998.1 D87455.1 NR_036571.2 

    8 DOTS entries:

    DT.86996757  DT.97789163  DT.105713  DT.453307  DT.100689584  DT.120790404  DT.100786425  DT.120790352 

    Selected AceView cDNA sequences (see all 187):

    AW271597 AA354152 AA781749 Z40767 AI338808 BC073862 BX473989 AA954436 
    F05368 AL705052 Z45035 BM479135 BM931845 AA258589 AK092428 AA442865 
    AA442866 BE218685 AI206392 BX505960 BM993493 AL708143 AA709377 N42423 

    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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    ALG11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTATATCT
    ALG11 Expression
    About this image

    ALG11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512963
        Custom PCR Arrays for ALG11
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG11

    (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 ALG11 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg111 , 5 asparagine-linked glycosylation 11 homolog (yeast, more5
    asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase)1
    85.95(n)1
    86.35(a)1
      8 (10.92 cM)5
    2079581  NM_001243161.11  NP_001230090.11 
     220607215 
    chicken
    (Gallus gallus)
    Aves ALG111 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase more 72.93(n)
    73.06(a)
      418880  NM_001199825.1  NP_001186754.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG116
    ALG11, alpha-1,2-mannosyltransferase
    68(a)
    1 ↔ 1
    1(132791861-132800704)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alg111 ALG11, alpha-1,2-mannosyltransferase 67.64(n)
    69.37(a)
      394898  NM_203952.1  NP_989283.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alg111 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase more 63.2(n)
    65.49(a)
      407614  NM_001161351.1  NP_001154823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113061 CG11306 54.22(n)
    51.29(a)
      40402  NM_001275253.1  NP_001262182.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0361.81 B0361.8 52.14(n)
    46.85(a)
      176032  NM_066205.4  NP_498606.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG111 ALG11 53.09(n)
    42.38(a)
      855679   NP_014350.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LEW31 LEW3 52.97(n)
    46.95(a)
      818610  NM_129577.4  NP_181548.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g05830001 Os12g0583000 52.56(n)
    46.15(a)
      4352649  NM_001073676.1  NP_001067144.2 


    ENSEMBL Gene Tree for ALG11 (if available)
    TreeFam Gene Tree for ALG11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALG11 gene

    Find genes that share paralogs with ALG11           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ALG11
    PGOHUM00000234480


    (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 ALG11 (see all 399)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0680724
    Congenital disorder of glycosylation 1P (CDG1P)4--see VAR_0680722 L S mis40--------
    VAR_0680704
    Congenital disorder of glycosylation 1P (CDG1P)4--see VAR_0680702 Y S mis40--------
    VAR_0680734
    Congenital disorder of glycosylation 1P (CDG1P)4--see VAR_0680732 E K mis40--------
    VAR_0680714
    Congenital disorder of glycosylation 1P (CDG1P)4--see VAR_0680712 Q P mis40--------
    VAR_0649084
    Congenital disorder of glycosylation 1P (CDG1P)4--see VAR_0649082 L S mis40--------
    rs1814943481,2
    --33528149(+) CAGCTC/GCTCCA 2 -- int10--------
    rs1846245591,2
    --33528204(+) AGAGGA/GTGAAA 2 -- int10--------
    rs1475767171,2
    --33528315(+) AGAAAC/TGCCTG 2 -- int10--------
    rs1905535501,2
    --33528450(+) GGAGCC/TGCGAG 2 -- int10--------
    rs1420883041,2
    --33528468(+) CCACCA/GTCCTC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ALG11 (52586523 - 52603800 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALG11:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv900082CNV Gain21882294

    Human Gene Mutation Database (HGMD): ALG11
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ALG11
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG11

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613666   
    OMIM disorders: 613661  
    UniProtKB/Swiss-Prot: ALG11_HUMAN, Q2TAA5
  • Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]: 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

  • 2 diseases for ALG11:    
    About MalaCards
    congenital disorder of glycosylation, type ip    congenital disorder of glycosylation

    1 disease from the University of Copenhagen DISEASES database for ALG11:
    Congenital disorder of glycosylation

    Find genes that share disorders with ALG11           About GenesLikeMe

    Genetic Association Database (GAD): ALG11
    Human Genome Epidemiology (HuGE) Navigator: ALG11 (1 document)

    Export disorders for ALG11 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 ALG11 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ALG11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. (PubMed id 20080937)1, 2, 3 Rind N.... Korner C. (Hum. Mol. Genet. 2010)
    2. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. (PubMed id 22213132)1, 2 Thiel C.... Korner C. (Hum. Mutat. 2012)
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    4. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    6. UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man. (PubMed id 16354793)1 Rohozinski J....Bishop C.E. (Biol. Reprod. 2006)
    7. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    8. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 440138 HGNC: 32456 AceView: UTP14C Ensembl:ENSG00000253710 euGenes: HUgn440138
    ECgene: ALG11 Kegg: 440138 H-InvDB: ALG11

    (According to HUGE)
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    HUGE: KIAA1266

    (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 ALG11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ALG11 gene:
    Search GeneIP for patents involving ALG11

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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