Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ALG8 Gene

protein-coding   GIFtS: 67
GCID: GC11M077811

ALG8, Alpha-1,3-Glucosyltransferase

(Previous names: asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase),...)
  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

TryGeneCards Plus

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
ALG8, Alpha-1,3-Glucosyltransferase1 2     HUSSY-022
Asparagine-Linked Glycosylation 8 Homolog (Yeast,
Alpha-1,3-Glucosyltransferase)1 2
     Asparagine-Linked Glycosylation 8 Homolog (S. Cerevisiae,
Alpha-1,3-Glucosyltransferase)2
Dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-Dolichol Alpha-
1->3-Glucosyltransferase1 2
     Asparagine-Linked Glycosylation 8, Alpha-1,3-Glucosyltransferase Homolog2
Asparagine-Linked Glycosylation Protein 8 Homolog2 3     Dolichyl Pyrophosphate Glc1Man9GlcNAc2 Alpha-1,3-Glucosyltransferase2
Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-Dolichyl Alpha-1,3-Glucosyltransferase2 3     dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase2
Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-Dolichyl Glucosyltransferase2 3     Probable Dolichyl Pyrophosphate Glc1Man9GlcNAc2
Alpha-1,3-Glucosyltransferase2
CDG1H2 5     EC 2.4.1.2653
Asparagine-Linked Glycosylation 8, Alpha-1,3-Glucosyltransferase Homolog
(S. Cerevisiae)1
     EC 2.4.18

External Ids:    HGNC: 231611   Entrez Gene: 790532   Ensembl: ENSG000001590637   OMIM: 6081035   UniProtKB: Q9BVK23   
ORGUL members:         

Export aliases for ALG8 gene to outside databases

Previous GC identifers: GC11M077538 GC11M077489 GC11M074110


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ALG8 Gene:
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition
of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of
proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih).
Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ALG8 Gene:
ALG8 (ALG8, alpha-1,3-glucosyltransferase) is a protein-coding gene. Diseases associated with ALG8 include congenital disorder of glycosylation type 1h, and congenital disorder of glycosylation. GO annotations related to this gene include alpha-1,3-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2
Function: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked
glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked
oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity)

Gene Wiki entry for ALG8 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG8 gene promoter:
         STAT5B   c-Fos   HOXA3   AML1a   AP-1   STAT5A   XBP-1   GATA-1   Cart-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG8 promoter sequence
   Search Chromatin IP Primers for ALG8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG8


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

Entrez Gene cytogenetic band: 11q14.1   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q14.1

ALG8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M077811:  view genomic region     (about GC identifiers)

Start:
77,811,982 bp from pter      End:
77,850,706 bp from pter
Size:
38,725 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2 (See protein sequence)
Recommended Name: Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase  
Size: 526 amino acids; 60088 Da
Sequence caution: Sequence=CAA12176.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NDW6 O60860
Alternative splicing: 2 isoforms:  Q9BVK2-1   Q9BVK2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALG8: NX_Q9BVK2

Explore proteomics data for ALG8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys304
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALG8 (Q9BVK2) (see all 8)
     LPISQWY  HAYWAPN  VHRNWLAIT  DHIHFQYNG 


    See ALG8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001007028.1  NP_076984.2  

    ENSEMBL proteins: 
     ENSP00000432381   ENSP00000299626   ENSP00000434066   ENSP00000434388   ENSP00000365326  
     ENSP00000436366   ENSP00000435626   ENSP00000433429   ENSP00000432953   ENSP00000435467  
     ENSP00000434660   ENSP00000435417   ENSP00000437199   ENSP00000436064   ENSP00000437033  
     ENSP00000431357  
    Reactome Protein details: Q9BVK2

    ALG8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ALG8
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ALG8
    GenScript Custom Purified and Recombinant Proteins Services for ALG8
    Novus Biologicals ALG8 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALG8

    ALG8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ALG8
    OriGene Custom Antibody Services for ALG8
    Novus Biologicals ALG8 Antibodies
    Abcam antibodies for ALG8
    Cloud-Clone Corp. Antibodies for ALG8
    Search ThermoFisher Antibodies for ALG8
    LSBio Antibodies in human, mouse, rat for ALG8

    ALG8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ALG8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ALG8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALG8
    Cloud-Clone Corp. CLIAs for ALG8


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

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR004856 Glyco_trans_ALG6/ALG8

    Graphical View of Domain Structure for InterPro Entry Q9BVK2

    ProtoNet protein and cluster: Q9BVK2

    1 Blocks protein domain: IPB004856 ALG6

    UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2
    Similarity: Belongs to the ALG6/ALG8 glucosyltransferase family


    ALG8 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG8_HUMAN, Q9BVK2
    Function: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked
    glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked
    oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity)
    Catalytic activity: Dolichyl beta-D-glucosyl phosphate +
    D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    =
    D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.2651

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000033alpha-1,3-mannosyltransferase activity IMP12480927
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    ALG8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ALG8:
     Decreased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG8

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALG8:
    hsa-mir-98-5p (MIRT027758)

    Block miRNA regulation of human, mouse, rat ALG8 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALG8
    SwitchGear 3'UTR luciferase reporter plasmidALG8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALG8
    Predesigned siRNA for gene silencing in human, mouse, rat ALG8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALG8

    Clone
    Products:
         
    OriGene clones in human, mouse for ALG8 (see all 13)
    OriGene ORF clones in mouse, rat for ALG8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ALG8 (NM_024079)
    Sino Biological Human cDNA Clone for ALG8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ALG8
    Browse ESI BIO Cell Lines and PureStem Progenitors for ALG8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ALG8_HUMAN, Q9BVK2: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    nucleus1

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

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

    ALG8 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for ALG8 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 ALG8
        dolichyl-diphosphooligosaccharide biosynthesis


    1 Reactome Pathway for ALG8
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG8):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2
    Pathway: Protein modification; protein glycosylation


    ALG8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG8
    Interactions:

        Search GeneGlobe Interaction Network for ALG8

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

    Selected Interacting proteins for ALG8 (Q9BVK23 ENSP000002996264) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG12Q9BV103, ENSP000003338134I2D: score=1 STRING: ENSP00000333813
    ALG3Q926853, ENSP000003807934I2D: score=1 STRING: ENSP00000380793
    ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
    DDOSTP396563, ENSP000003641884I2D: score=1 STRING: ENSP00000364188
    ERN1O754603, ENSP000004014454I2D: score=1 STRING: ENSP00000401445
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation IMP12480927
    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--

    ALG8 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALG8

    1 HMDB Compound for ALG8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichyl b-D-glucosyl phosphateDolichol monophosphate glucose (see all 10)220496-27-5--



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

    TryGeneCards Plus

    REFSEQ mRNAs for ALG8 gene (3 alternative transcripts): 
    NM_001007027.2  NM_024079.4  NM_001007028.1  

    Unigene Cluster for ALG8:

    ALG8, alpha-1,3-glucosyltransferase
    Hs.503368  [show with all ESTs]
    Unigene Representative Sequence: NM_001007027
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000530608 ENST00000299626(uc001oza.1) ENST00000525783 ENST00000531213
    ENST00000526849 ENST00000376156(uc001oyz.1) ENST00000526737 ENST00000532306
    ENST00000532552 ENST00000532440 ENST00000524925 ENST00000529139 ENST00000525755
    ENST00000530454 ENST00000525870 ENST00000532050(uc009yuy.1) ENST00000527099
    ENST00000530910
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ALG8 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALG8
    SwitchGear 3'UTR luciferase reporter plasmidALG8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ALG8
    Predesigned siRNA for gene silencing in human, mouse, rat ALG8
    Clone
    Products:
         
    OriGene clones in human, mouse for ALG8 (see all 13)
    OriGene ORF clones in mouse, rat for ALG8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ALG8 (NM_024079)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ALG8
    OriGene qSTAR qPCR primer pairs in human, mouse for ALG8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG8
      QuantiTect SYBR Green Assays in human, mouse, rat ALG8
      QuantiFast Probe-based Assays in human, mouse, rat ALG8

    Additional mRNA sequence: 

    AJ224875.1 AK075184.1 AK075194.1 AK098614.1 AK309050.1 BC001133.2 BC017892.1 

    15 DOTS entries:

    DT.441006  DT.100028332  DT.120726972  DT.100838277  DT.92414910  DT.91753415  DT.100810507  DT.91753412 
    DT.100810508  DT.101983283  DT.120726996  DT.120727001  DT.75103350  DT.100810499  DT.95189018 

    Selected AceView cDNA sequences (see all 276):

    CA489630 CR595136 BI759475 AK098614 BM761584 CR621003 BU152846 AA336834 
    BU165111 CB155957 CR623474 CR620133 BM995057 CA489742 BM924807 AW960744 
    BP338275 CR618228 BG721569 CR599637 BM711882 BU623765 CR607665 BM972979 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALG8 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a ·
    SP1:                                            -     -     -     -                                                                                         -   
    SP2:                                            -     -     -     -                                                                                         -   
    SP3:                                            -     -     -     -     -     -                                                                                 
    SP4:                                            -     -     -     -                                                                                             
    SP5:                                      -     -     -     -     -                                                                                             

    ExUns: 14b ^ 15 ^ 16 ^ 17
    SP1:                        
    SP2:              -         
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ALG8

    (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)
    About This Section

    TryGeneCards Plus

    ALG8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTATTCA
    ALG8 Expression
    About this image

    ALG8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503368
        Custom PCR Arrays for ALG8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ALG8
    OriGene qSTAR qPCR primer pairs in human, mouse for ALG8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG8
    QuantiTect SYBR Green Assays in human, mouse, rat ALG8
    QuantiFast Probe-based Assays in human, mouse, rat ALG8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG8

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG8 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg81 , 5 asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)5
    asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)1
    86.88(n)1
    89.92(a)1
      7 (53.48 cM)5
    3819031  NM_199035.21  NP_950200.21 
     973716065 
    chicken
    (Gallus gallus)
    Aves ALG81 asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase more 74.24(n)
    77.67(a)
      428097  XM_004938936.1  XP_004938993.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG86
    ALG8, alpha-1,3-glucosyltransferase
    75(a)
    1 ↔ 1
    GL343337.1(515590-533222)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76752 Xenopus laevis transcribed sequence with weak similarity more 75.06(n)    AW646579.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi19e092 wufi19e09 72.35(n)   327600  AW153351.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45421 CG4542 53.35(n)
    52.17(a)
      31623  NM_132127.3  NP_572355.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C08H9.36
    Protein C08H9.3, isoform a
    24(a)
    1 ↔ 1
    II(9882728-9886442) WBGene00007464
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG8(YOR067C)4
    ALG81
    Glucosyl transferase, involved in N-linked glycosylation; more4
    ALG81
    51.44(n)1
    42.53(a)1
      15(453462-451729)4
    8542331, 4  NP_014710.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G446601 AT2G44660 51.46(n)
    47.76(a)
      819074  NM_130030.5  NP_181994.5 
    rice
    (Oryza sativa)
    Liliopsida Os02g06885001 Os02g0688500 48.49(n)
    42.8(a)
      4330363  NM_001054314.1  NP_001047779.1 


    ENSEMBL Gene Tree for ALG8 (if available)
    TreeFam Gene Tree for ALG8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ALG8 gene
    1 SIMAP similar gene for ALG8 using alignment to 16 protein entries:     ALG8_HUMAN (see all proteins):
    ALG6

    ALG8 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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ALG8 (see all 1135)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0234804
    Congenital disorder of glycosylation 1H (CDG1H)4--see VAR_0234802 T P mis40--------
    VAR_0234824
    Congenital disorder of glycosylation 1H (CDG1H)4--see VAR_0234822 G D mis40--------
    rs1219082931,2
    Cpathogenic177838439(-) CTATCA/C/TCTCAC 4 T P mis11NA 4550
    rs12718481,2
    C,F,O,A,H--77811520(-) TGTTCC/GAGATT 2 -- ds500120Minor allele frequency- G:0.35MN NA NS EA WA CSA 1297
    rs12683981,2
    C,F,O,A,H--77811634(-) AAATGA/CAATGC 2 -- ds500125Minor allele frequency- C:0.17NA NS EA WA 2678
    rs28455561,2
    C,F,O,A,H--77811726(-) AGGGAG/ATCTGA 2 -- ds500131Minor allele frequency- A:0.30NA NS EA WA CSA 2920
    rs1829983161,2
    --77811779(+) ATTTTA/CATAGG 2 -- ds50010--------
    rs1875327791,2
    --77811787(+) AGGGAA/GAGGTG 2 -- ds50010--------
    rs38417451,2
    C--77811794(-) AAAAA-/ACTCAC 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs171362311,2
    C,F,H--77811863(+) GGTTGC/TTAGGC 2 -- ds500112Minor allele frequency- T:0.07NA NS EA WA 1348

    HapMap Linkage Disequilibrium report for ALG8 (77811982 - 77850706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALG8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520740CNV Gain19592680

    Human Gene Mutation Database (HGMD): ALG8
    Locus Specific Mutation Databases (LSDB): ALG8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG8
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG8

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608103   
    OMIM disorders: 608104  
    UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2
  • Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: 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

  • 7 diseases for ALG8:    
    About MalaCards
    congenital disorder of glycosylation type 1h    congenital disorder of glycosylation    congenital disorder of glycosylation, type it    hypotonia
    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for ALG8:
    Congenital disorder of glycosylation

    ALG8 for disorders           About GeneDecksing

    GeneTests: ALG8
    GeneReviews: ALG8
    Genetic Association Database (GAD): ALG8
    Human Genome Epidemiology (HuGE) Navigator: ALG8 (1 document)

    Export disorders for ALG8 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

    TryGeneCards Plus

    PubMed articles for ALG8 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with ALG8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (PubMed id 15235028)1, 2 Schollen E.... Matthijs G. (J. Med. Genet. 2004)
    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. (Genome Res. 2004)
    4. A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. (PubMed id 12480927)1, 2 Chantret I.... Moore S.E.H. (J. Biol. Chem. 2003)
    5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (Yeast 2001)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. (PubMed id 22306853)1 Sorte H....Prescott T. (Eur J Med Genet 2012)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 79053 HGNC: 23161 AceView: ALG8 Ensembl:ENSG00000159063 euGenes: HUgn79053
    ECgene: ALG8 Kegg: 79053 H-InvDB: ALG8

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ALG8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG8[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG8

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

    TryGeneCards Plus
    Patent Information for ALG8 gene:
    Search GeneIP for patents involving ALG8

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ALG8   OriGene RNAi products in human, mouse, rat for ALG8  
     OriGene qPCR primer pairs and template standards for ALG8   OriGene Protein Over-expression Lysate for ALG8  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ALG8  
     OriGene qSTAR qPCR primer pairs in human, mouse for ALG8   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ALG8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ALG8   OriGene Custom Protein Services for ALG8  

     
     
     Block miRNA regulation of human, mouse, rat ALG8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ALG8
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG8 Predesigned siRNA for gene silencing in human, mouse, rat ALG8
     QuantiFast Probe-based Assays in human, mouse, rat ALG8 QuantiTect SYBR Green Assays in human, mouse, rat ALG8
     Custom PCR Arrays for ALG8 Search Chromatin IP Primers for ALG8
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG8  Search GeneGlobe Interaction Network for ALG8
     Regulatory tfbs in ALG8 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ALG8 GenScript cDNA clones with any tag delivered in your preferred vector for ALG8
     GenScript Custom Assay Services for ALG8 GenScript Custom overexpressing Cell Line Services for ALG8
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ALG8
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ALG8
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ALG8 antibodies
     ALG8 proteins
     Antibodies for ALG8
     See all of Abcam's Antibodies, Kits and Proteins for ALG8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ALG8
     Antibodies for ALG8
     ELISAs for ALG8
     CLIAs for ALG8



     Browse ESI BIO Cell Lines and PureStem Progenitors for ALG8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG8
     SwitchGear 3'UTR luciferase reporter plasmids for ALG8
     SwitchGear Promoter luciferase reporter plasmids for ALG8
     Search ThermoFisher Antibodies for ALG8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG8
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG8
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG8
     LSBio Antibodies in human, mouse, rat for ALG8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ALG8 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4