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

ALG13 Gene

protein-coding   GIFtS: 56
GCID: GC0XP110909

ALG13, UDP-N-Acetylglucosaminyltransferase Subunit

(Previous names: glycosyltransferase 28 domain containing 1, chromosome X...)
(Previous symbols: GLT28D1, CXorf45)
  See related diseases
at  

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ALG13, UDP-N-Acetylglucosaminyltransferase Subunit1 2     Glycosyltransferase 28 Domain Containing 11
CXorf451 2 3     CDG1S2
GLT28D11 2 5     MDS0312
N-Acetylglucosaminyldiphosphodolichol N-Acetylglucosaminyltransferase1 2     TDRD132
Tudor Domain Containing 131 2     YGL047W2
Asparagine-Linked Glycosylation 13 Homolog2 3     Hematopoietic Stem/Progenitor Cells Protein MDS0312
Glycosyltransferase 28 Domain-Containing Protein 12 3     UDP-N-Acetylglucosamine Transferase Subunit ALG13 Homolog2
Asparagine-Linked Glycosylation 13 Homolog (S. Cerevisiae)1     EC 2.4.1.1413
Chromosome X Open Reading Frame 451     

External Ids:    HGNC: 308811   Entrez Gene: 798682   Ensembl: ENSG000001019017   OMIM: 3007765   UniProtKB: Q9NP733   
ORGUL members:         
NONCODE14:n409066 n409064      

Export aliases for ALG13 gene to outside databases

Previous GC identifers: GC0XP110811 GC0XP100545


(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 ALG13 Gene:
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It
heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc
glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in
endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Dec 2009)

GeneCards Summary for ALG13 Gene: 
ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with ALG13 include congenital myasthenic syndrome, and uterine fibroid, and among its related super-pathways are WNT ligand biogenesis and trafficking and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include carbohydrate binding and N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. An important paralog of this gene is OTUD4.

UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
Function: Isoform 2 may be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide
pathway

Gene Wiki entry for ALG13 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALG13 gene promoter:
         Pbx1a   GCNF   NF-E2 p45   TFIID   GCNF-1   COMP1   Cart-1   NF-E2   GCNF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG13 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALG13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG13


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

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq23

ALG13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG13 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP110909:  view genomic region     (about GC identifiers)

Start:
110,909,043 bp from pter      End:
111,003,877 bp from pter
Size:
94,835 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73 (See protein sequence)
Recommended Name: UDP-N-acetylglucosamine transferase subunit ALG13 homolog  
Size: 1137 amino acids; 126056 Da
Subunit: Isoform 2 may interact with ALG14 (By similarity)
Subcellular location: Isoform 2: Endoplasmic reticulum (Probable). Note=Could be recruited to the cytosolic face
of the endoplasmic reticulum membrane through its interaction with ALG14
Sequence caution: Sequence=AAI17378.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI17380.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15521.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD96874.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous termination; Positions=424;
Note=Translated as Cys; Sequence=CAI43016.2; Type=Erroneous gene model prediction; Sequence=CAM28219.1;
Type=Erroneous gene model prediction;
Secondary accessions: B1AKD6 B1AKM1 B2R5L5 B7Z6J0 B7Z804 B7Z847 B7Z9A8 B7ZAJ1 B7ZB57 Q17RC3
Q5JXY9 Q9H5U8
Alternative splicing: 4 isoforms:  Q9NP73-1   Q9NP73-2   Q9NP73-3   Q9NP73-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALG13: NX_Q9NP73

Explore proteomics data for ALG13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NP73

  • ALG13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALG13 Protein Expression
    REFSEQ proteins (12 alternative transcripts): 
    NP_001034299.3  NP_001093392.1  NP_001161857.1  NP_001244159.1  NP_001244160.1  NP_001244163.1  NP_001244164.1  NP_001244166.1  
    NP_001244168.1  NP_001244169.1  NP_001244170.1  NP_060936.1  

    ENSEMBL proteins: 
     ENSP00000361047   ENSP00000426892   ENSP00000378260   ENSP00000427093   ENSP00000392990  
     ENSP00000251943  
    Reactome Protein details: Q9NP73
    Human Recombinant Protein Products for ALG13: 
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    Cloud-Clone Corp. Proteins for ALG13 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    ALG13 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TDRD: Tudor domain containing

    3 InterPro protein domains:
     IPR003323 OTU
     IPR007235 Glyco_trans_28_C
     IPR002999 Tudor

    Graphical View of Domain Structure for InterPro Entry Q9NP73

    ProtoNet protein and cluster: Q9NP73

    UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
    Similarity: Belongs to the glycosyltransferase 28 family
    Similarity: Contains 1 OTU domain
    Similarity: Contains 1 Tudor domain


    ALG13 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG13_HUMAN, Q9NP73
    Function: Isoform 2 may be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide
    pathway
    Catalytic activity: UDP-N-acetyl-D-glucosamine + N-acetyl-D-glucosaminyl-diphosphodolichol = UDP +
    N,N'-diacetylchitobiosyl-diphosphodolichol

         Enzyme Number (IUBMB): EC 2.4.1.1411

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004577N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity IEA--
    GO:0008234cysteine-type peptidase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0030246carbohydrate binding IEA--
         
    ALG13 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Alg13):
     cardiovascular system  embryogenesis  mortality/aging 

    ALG13 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALG13 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG13 
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    SwitchGear 3'UTR luciferase reporter plasmidALG13 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALG13 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ALG13
        dolichyl-diphosphooligosaccharide biosynthesis

    5/7        Reactome Pathways for ALG13 (see all 7)
        Signaling by Wnt
    Asparagine N-linked glycosylation
    Signal Transduction
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for ALG13):
        N-Glycan biosynthesis
    Metabolic pathways


    ALG13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/11 Interacting proteins for ALG13 (Q9NP732, 3 ENSP000003610474) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    REREQ9P2R62, 3, ENSP000003386294MINT-2876453 I2D: score=2 STRING: ENSP00000338629
    ATN1P542592, 3, ENSP000003490764MINT-2876415 I2D: score=2 STRING: ENSP00000349076
    MSNP260383I2D: score=4 
    CUX1P398803I2D: score=1 
    PUF60Q9UHX13I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006508proteolysis IEA--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030259lipid glycosylation IEA--

    ALG13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALG13

    4 HMDB Compounds for ALG13    About this table
    CompoundSynonyms CAS #PubMed Ids
    N,N'-DiacetylchitobiosyldiphosphodolicholChitobiosyldiphosphodolichol (see all 2)----
    N-Acetyl-D-glucosaminyldiphosphodolicholN-Acetyl-D-glucosaminyl-diphosphodolichol ----
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylglucosamineN-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)528-04-1--

    Search CenterWatch for drugs/clinical trials and news about ALG13

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

    REFSEQ mRNAs for ALG13 gene (12 alternative transcripts): 
    NM_001039210.3  NM_001099922.2  NM_001168385.1  NM_001257230.1  NM_001257231.1  NM_001257234.1  NM_001257235.1  NM_001257237.1  
    NM_001257239.1  NM_001257240.1  NM_001257241.1  NM_018466.4  

    Unigene Cluster for ALG13:

    ALG13, UDP-N-acetylglucosaminyltransferase subunit
    Hs.443061  [show with all ESTs]
    Unigene Representative Sequence: NM_001257231
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000487141 ENST00000371979(uc022ccl.1 uc022ccm.1 uc022ccn.1 uc004epi.2 uc022cco.1 uc022ccp.1 uc022ccq.1)
    ENST00000473389 ENST00000482374 ENST00000486353 ENST00000492038 ENST00000394780(uc011msy.2 uc011msz.2)
    ENST00000489033 ENST00000495283 ENST00000468657 ENST00000471924 ENST00000482742
    ENST00000470704 ENST00000436609 ENST00000490774 ENST00000470971 ENST00000460092
    ENST00000486578
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    Additional mRNA sequence: 

    AF220051.1 AK026671.1 AK056347.1 AK223154.1 AK300394.1 AK302729.1 AK302890.1 AK304712.1 
    AK311608.1 AK312229.1 AK316306.1 AK316522.1 BC005336.1 BC117377.1 BC117379.1 NR_033125.1 

    24/27 DOTS entries (see all 27):

    DT.113134  DT.448810  DT.91757707  DT.91743885  DT.75101403  DT.91935306  DT.100022949  DT.86847583 
    DT.87006558  DT.97841620  DT.100788710  DT.91743884  DT.121306345  DT.121306350  DT.121306352  DT.91753670 
    DT.91757709  DT.92023993  DT.95271494  DT.121306371  DT.40308966  DT.91653774  DT.91803643  DT.95365627 

    24/209 AceView cDNA sequences (see all 209):

    AA345374 AW290958 AA907248 AI373597 AI097292 BF055996 CB268871 BQ004828 
    CB528907 AI984956 BX118776 AL706526 BQ004489 AA789074 NM_018466 BU783837 
    AI700032 AI460228 D57954 AA806568 CR604429 AA676867 AL044081 AI277542 

    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

    ALG13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALG13 Expression
    About this image


    See ALG13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG13

    SOURCE GeneReport for Unigene cluster: Hs.443061
        SABiosciences Custom PCR Arrays for ALG13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG13

    (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 animals.

    Orthologs for ALG13 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg135 asparagine-linked glycosylation 13 homolog (S. cerevisiae)   --   X (65.42 cM) 144317812 
    chicken
    (Gallus gallus)
    Aves ALG131 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 69.21(n)
    63.63(a)
      422339  XM_420312.3  XP_420312.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    71(a)
    54(a)
    1 ↔ many
    1 ↔ many
    GL343376.1(479057-496466)
    GL343376.1(498268-509538)
    zebrafish
    (Danio rerio)
    Actinopterygii alg131 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 56.01(n)
    49.56(a)
      557181  NM_001031838.1  NP_001027008.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32516
    otu6
    ovarian tumor
    21(a)
    17(a)
    many ↔ many
    many ↔ many
    2L(4688965-4690702)
    X(8379041-8383568)


    ENSEMBL Gene Tree for ALG13 (if available)
    TreeFam Gene Tree for ALG13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALG13 gene
    OTUD42  
    2 SIMAP similar genes for ALG13 using alignment to 3 protein entries:     ALG13_HUMAN (see all proteins):
    OTUD4    HIN1L

    ALG13 for paralogs           About GeneDecksing



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

    10/999 SNPs in ALG13 are shown (see all 999)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692184
    Congenital disorder of glycosylation 1S (CDG1S)4--see VAR_0692182 K E mis40--------
    VAR_0694124
    ----see VAR_0694122 N S mis40--------
    rs1869416821,2
    --110902417(+) GAGGCA/GGGAGT 6 -- us2k10--------
    rs1510795211,2
    --110902445(+) AGGGTA/GGGGCT 12 -- us2k10--------
    rs732663131,2
    --110902515(+) TTTCTC/GTAACT 12 -- us2k10--------
    rs1901899151,2
    --110902530(+) ACAGGA/GAAAAG 12 -- us2k10--------
    rs1813977801,2
    --110902734(+) GGGTCA/CGGCAA 12 -- us2k10--------
    rs1864132121,2
    --110902931(+) GAATGA/GCGTGA 13 -- us2k10--------
    rs1899168361,2
    --110902964(+) TGAGCC/TGAGAT 13 -- us2k10--------
    rs24958091,2
    C,F--110903378(+) AGACGT/CGGCCT 13 -- us2k14Minor allele frequency- C:0.29NA WA CSA 7

    HapMap Linkage Disequilibrium report for ALG13 (110909043 - 111003877 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALG13:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740380CNV Deletion23290073


    Human Gene Mutation Database (HGMD): ALG13

    Locus Specific Mutation Databases (LSDB): ALG13
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG13
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG13

    (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.)
    About This Section
    OMIM gene information: 300776    OMIM disorders: --

    UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
  • Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]: 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

  • 5 diseases for ALG13:    About MalaCards
    congenital myasthenic syndrome    uterine fibroid    congenital disorder of glycosylation    leiomyoma
    gastric cancer

    1 disease from the University of Copenhagen DISEASES database for ALG13:
    Congenital myasthenic syndrome

    ALG13 for disorders           About GeneDecksing


    Export disorders for ALG13 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 ALG13 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with ALG13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    2. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. (PubMed id 16100110)1, 2 Gao X.-D.... Dean N. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    7. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (2012)
    8. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. (PubMed id 22492991)2 Timal S.... Lefeber D.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 79868 HGNC: 30881 AceView: GLT28D1andCXorf45 Ensembl:ENSG00000101901 euGenes: HUgn79868
    ECgene: ALG13 Kegg: 79868 H-InvDB: ALG13

    (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 ALG13 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GLT28D1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALG13 gene:
    Search GeneIP for patents involving ALG13

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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