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ALG6 Gene

protein-coding   GIFtS: 61
GCID: GC01P063834

ALG6, Alpha-1,3-Glucosyltransferase

(Previous names: asparagine-linked glycosylation 6 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)
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Aliases
ALG6, Alpha-1,3-Glucosyltransferase1 2     Asparagine-Linked Glycosylation 6 Homolog (S. Cerevisiae,
Alpha-1,3-Glucosyltransferase)2
Asparagine-Linked Glycosylation 6 Homolog (Yeast,
Alpha-1,3-Glucosyltransferase)1 2
     Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog2
Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-Dolichol Alpha- 1->3-Glucosyltransferase1 2     Dolichyl Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase2
Asparagine-Linked Glycosylation Protein 6 Homolog2 3     dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase2
Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase2 3     Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase2
Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichyl Glucosyltransferase2 3     EC 2.4.1.2673
CDG1C2 5     EC 2.4.18
Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog
(S. Cerevisiae)1
     

External Ids:    HGNC: 231571   Entrez Gene: 299292   Ensembl: ENSG000000880357   OMIM: 6045665   UniProtKB: Q9Y6723   

Export aliases for ALG6 gene to outside databases

Previous GC identifers: GC01P063768 GC01P062756 GC01P063191 GC01P063203 GC01P063545 GC01P063605 GC01P061941


(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 ALG6 Gene:
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition
of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation.
Mutations in this gene are associated with congenital disorders of glycosylation type Ic. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ALG6 Gene:
ALG6 (ALG6, alpha-1,3-glucosyltransferase) is a protein-coding gene. Diseases associated with ALG6 include congenital disorder of glycosylation type 1c, and pseudotumor cerebri. GO annotations related to this gene include glucosyltransferase activity.

UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
Function: Adds the first 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
Man(9)GlcNAc(2)-PP-Dol

Gene Wiki entry for ALG6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG6 gene promoter:
         TBP   E2F-3a   E2F-4   E2F-5   E2F-2   Nkx2-5   POU3F2   E2F-1   E2F   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG6 promoter sequence
   Search Chromatin IP Primers for ALG6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG6


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

ALG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P063834:  view genomic region     (about GC identifiers)

Start:
63,833,261 bp from pter      End:
63,904,233 bp from pter
Size:
70,973 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672 (See protein sequence)
Recommended Name: Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase  
Size: 507 amino acids; 58181 Da
Secondary accessions: B3KMU2 Q5SXR9 Q9H3I0

Explore the universe of human proteins at neXtProt for ALG6: NX_Q9Y672

Explore proteomics data for ALG6 at MOPED

Selected DME Specific Peptides for ALG6 (Q9Y672) (see all 10)
 NYKQMELYH  HKLFMRTTV  LTVRWTVSL  SYSGAGKPPM 


See ALG6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_037471.2  
ENSEMBL proteins: 
 ENSP00000360149   ENSP00000473328   ENSP00000473934   ENSP00000263440  
Reactome Protein details: Q9Y672

ALG6 Human Recombinant Protein Products:

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Novus Biologicals ALG6 Protein
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Cloud-Clone Corp. Proteins for ALG6

ALG6 Antibody Products:

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LSBio Antibodies in human, mouse, rat for ALG6

ALG6 Assay Products:

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Cloud-Clone Corp. ELISAs for ALG6
Cloud-Clone Corp. CLIAs for ALG6


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR004856 Glyco_trans_ALG6/ALG8

Graphical View of Domain Structure for InterPro Entry Q9Y672

ProtoNet protein and cluster: Q9Y672

1 Blocks protein domain: IPB004856 ALG6

UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
Similarity: Belongs to the ALG6/ALG8 glucosyltransferase family


ALG6 for domains           About GeneDecksing


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

     UniProtKB/Swiss-Prot Summary: ALG6_HUMAN, Q9Y672
Function: Adds the first 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
Man(9)GlcNAc(2)-PP-Dol
Catalytic activity: Dolichyl beta-D-glucosyl phosphate +
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-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 2.4.1.2671

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016758transferase activity, transferring hexosyl groups ----
GO:0046527glucosyltransferase activity IDA10359825
     
ALG6 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for ALG6:
 Decreased Salmonella enterica  

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG6
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG6

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG6
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG6

miRNA
Products:
    
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Selected qRT-PCR Assays for microRNAs that regulate ALG6 (see all 17):
hsa-miR-3194-5p hsa-miR-631 hsa-miR-3661 hsa-miR-373* hsa-miR-9 hsa-miR-591 hsa-miR-924 hsa-miR-23a
SwitchGear 3'UTR luciferase reporter plasmidALG6 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ALG6
Predesigned siRNA for gene silencing in human, mouse, rat ALG6

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for ALG6

Clone
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OriGene clones in human, mouse for ALG6 (see all 7)
OriGene ORF clones in mouse, rat for ALG6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ALG6 (NM_013339)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG6
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG6

Cell Line
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GenScript Custom overexpressing Cell Line Services for ALG6
Browse ESI BIO Cell Lines and PureStem Progenitors for ALG6 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG6


(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
ALG6_HUMAN, Q9Y672: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--

ALG6 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ALG6 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
3GPCRs, Other
GPCRs, Other

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for ALG6
    GPCRs, Other
dolichyl-diphosphooligosaccharide biosynthesis

1 Reactome Pathway for ALG6
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


2 Kegg Pathways  (Kegg details for ALG6):
    N-Glycan biosynthesis
Metabolic pathways

UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
Pathway: Protein modification; protein glycosylation


ALG6 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG6
Interactions:

    Search GeneGlobe Interaction Network for ALG6

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

Selected Interacting proteins for ALG6 (Q9Y6723 ENSP000003601494) via UniProtKB, MINT, STRING, and/or I2D (see all 99)

InteractantInteraction Details
GeneCardExternal ID(s)
ALG12Q9BV103, ENSP000003338134I2D: score=1 STRING: ENSP00000333813
ALG3Q926853, ENSP000003807934I2D: score=1 STRING: ENSP00000380793
ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
ALG8Q9BVK23, ENSP000002996264I2D: score=1 STRING: ENSP00000299626
AP3D1O146173, ENSP000003440554I2D: score=1 STRING: ENSP00000344055
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006487protein N-linked glycosylation IGI10359825
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--

ALG6 for ontologies           About GeneDecksing



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

Browse Tocris compounds for ALG6

1 HMDB Compound for ALG6    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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ALG6 gene: 
NM_013339.3  

Unigene Cluster for ALG6:

ALG6, alpha-1,3-glucosyltransferase
Hs.258501  [show with all ESTs]
Unigene Representative Sequence: NM_013339
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000371108(uc021oof.1 uc010oox.2) ENST00000487136 ENST00000603108
ENST00000263440 ENST00000465969 ENST00000462390 ENST00000494765
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat ALG6 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ALG6 (see all 17):
hsa-miR-3194-5p hsa-miR-631 hsa-miR-3661 hsa-miR-373* hsa-miR-9 hsa-miR-591 hsa-miR-924 hsa-miR-23a
SwitchGear 3'UTR luciferase reporter plasmidALG6 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for ALG6
Predesigned siRNA for gene silencing in human, mouse, rat ALG6
Clone
Products:
     
OriGene clones in human, mouse for ALG6 (see all 7)
OriGene ORF clones in mouse, rat for ALG6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ALG6 (NM_013339)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG6
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG6
Primer
Products:
    
OriGene qPCR primer pairs and template standards for ALG6
OriGene qSTAR qPCR primer pairs in human, mouse for ALG6
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG6
  QuantiTect SYBR Green Assays in human, mouse, rat ALG6
  QuantiFast Probe-based Assays in human, mouse, rat ALG6

Additional mRNA sequence: 

AF063604.2 AF102851.1 AK022700.1 AK295286.1 BC001253.1 

7 DOTS entries:

DT.407208  DT.40258656  DT.70101444  DT.121395672  DT.95188320  DT.95366878  DT.100653167 

Selected AceView cDNA sequences (see all 76):

AI670122 NM_013339 AL561062 BX483687 BM727901 AI633803 AU280221 CB215801 
AI422330 AW403508 BU193408 AW002649 AI151466 AW438880 CR618543 BX385082 
BE221343 AA910174 BC001253 CR602025 CA455164 AA877322 AL525016 CB136550 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ALG6    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1:              -                 -                                                     -                                             
SP2:              -                 -     -                                                                                             
SP3:                                                                                                                                    
SP4:              -                                                                                                                     
SP5:                                                                                                                                    


ECgene alternative splicing isoforms for ALG6

(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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ALG6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAACCACAGG
ALG6 Expression
About this image

ALG6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ALG6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.258501
    Custom PCR Arrays for ALG6
Primer
Products:
OriGene qPCR primer pairs and template standards for ALG6
OriGene qSTAR qPCR primer pairs in human, mouse for ALG6
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALG6
QuantiTect SYBR Green Assays in human, mouse, rat ALG6
QuantiFast Probe-based Assays in human, mouse, rat ALG6
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG6

(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 ALG6 gene from Selected species (see all 23)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Alg61 , 5 asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)5
asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)1
85.47(n)1
84.42(a)1
  4 (45.71 cM)5
3204381  NM_001081264.11  NP_001074733.11 
 997156645 
chicken
(Gallus gallus)
Aves ALG61 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase more 74.88(n)
75.35(a)
  395078  NM_204435.1  NP_989766.1 
lizard
(Anolis carolinensis)
Reptilia ALG66
ALG6, alpha-1,3-glucosyltransferase
72(a)
1 ↔ 1
4(99309556-99358749)
African clawed frog
(Xenopus laevis)
Amphibia Xl.27392 Xenopus laevis transcribed sequence with moderate similarity more 77.19(n)    CA985768.1 
zebrafish
(Danio rerio)
Actinopterygii alg61 asparagine-linked glycosylation 6 homolog (S. cerevisiae, more 62.19(n)
61.07(a)
  445327  NM_001003784.2  NP_001003784.2 
fruit fly
(Drosophila melanogaster)
Insecta CG50913
gny1
N-linked glycosylation dolichyl
pyrophosphate more3
garnysstan1
44(a)3
50.81(n)1
47.36(a)1
  31D113
344091  NM_135549.41  NP_609393.11 
worm
(Caenorhabditis elegans)
Secernentea C08B11.81 , 3 C08B11.81 36(a)3
51.11(n)1
44.14(a)1
  II(8039932-8041639)3
1823921  NM_063284.11  NP_495685.11 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG6(YOR002W)4
ALG61
Alpha 1,3 glucosyltransferase, involved in transfer more4
ALG61
47.54(n)1
38.32(a)1
  15(329417-331051)4
8541631, 4  NP_014644.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G384601 AT5G38460 49.55(n)
41.75(a)
  833834  NM_123207.1  NP_198662.1 


ENSEMBL Gene Tree for ALG6 (if available)
TreeFam Gene Tree for ALG6 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ALG6 gene
1 SIMAP similar gene for ALG6 using alignment to 4 protein entries:     ALG6_HUMAN (see all proteins):
ALG8

ALG6 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)
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Selected SNPs for ALG6 (see all 1442)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs353831491,2,,4
C,FCongenital disorder of glycosylation 1C (CDG1C)4 --63945380(-) ACAGTA/GCAAAA 2 H Y mis15Minor allele frequency- G:0.02NA EU 6067
VAR_0225134
Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225132 G E mis40--------
VAR_0134434
Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0134432 A V mis40--------
VAR_0225144
Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225142 S R mis40--------
VAR_0134444
Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0134442 S P mis40--------
VAR_0225124
Congenital disorder of glycosylation 1C (CDG1C)4--see VAR_0225122 S I mis40--------
rs1219084431,2
Cpathogenic163958399(+) CTGTGC/TGCTAT 2 A V mis10--------
rs112081961,2
C,A--61947532(+) tttaCT/Attttt 1 -- int11Minor allele frequency- A:0.00WA 2
rs1413362391,2
C--61959713(+) GGCAT-/TTCTCTTT 1 -- cds10--------
rs1115533521,2
C--61960103(+) TGTAGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2

HapMap Linkage Disequilibrium report for ALG6 (63833261 - 63904233 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for ALG6:    About this table    
Variant IDTypeSubtypePubMed ID
esv1543308CNV Deletion17803354
nsv871017CNV Loss21882294
nsv1132CNV Loss18451855
nsv461672CNV Gain19166990
nsv470714CNV Gain18288195

Human Gene Mutation Database (HGMD): ALG6
Locus Specific Mutation Databases (LSDB): ALG6

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604566   
OMIM disorders: 603147  
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
  • Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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

  • 12 diseases for ALG6:    
    About MalaCards
    congenital disorder of glycosylation type 1c    pseudotumor cerebri    protein-losing enteropathy    congenital disorder of glycosylation
    congenital disorder of glycosylation, type it    skeletal dysplasias    hypotonia    dilated cardiomyopathy
    mental retardation    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for ALG6:
    Congenital disorder of glycosylation

    ALG6 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ALG6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 89.8 4 11558905 (1), 12855228 (1), 11106564 (1), 20447155 (1)
    carbohydrate-deficient glycoprotein syndrome 83.9 1 10359825 (1)

    GeneTests: ALG6
    GeneReviews: ALG6

    Export disorders for ALG6 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 ALG6 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with ALG6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. (PubMed id 10359825)1, 2, 3, 9 Imbach T....Hennet T. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (PubMed id 11875054)1, 2, 3 Westphal V.... Freeze H.H. (Hum. Mol. Genet. 2002)
    3. Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PubMed id 10914684)1, 2, 9 Imbach T.... Hennet T. (Hum. Genet. 2000)
    4. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PubMed id 12357336)1, 2, 9 Schollen E.... Matthijs G. (Eur. J. Hum. Genet. 2002)
    5. The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. (PubMed id 11558905)1, 2, 9 Vuillaumier-Barrot S.... Seta N. (J. Hum. Genet. 2001)
    6. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (PubMed id 11106564)1, 2, 9 Westphal V....Freeze H.H. (Am. J. Pathol. 2000)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic. (PubMed id 14517965)1, 2 Westphal V.... Freeze H.H. (Hum. Mutat. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29929 HGNC: 23157 AceView: ALG6 Ensembl:ENSG00000088035 euGenes: HUgn29929
    ECgene: ALG6 Kegg: 29929 H-InvDB: ALG6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALG6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG6[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG6 gene:
    Search GeneIP for patents involving ALG6

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



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