ALG6 Gene
protein-coding GIFtS: 60
GCID: GC01P063834
|
|
asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase...(Previous names: asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)...)
| |
Aliases
for ALG6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog (S.Cerevisiae)1 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 | | Dolichyl Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase2 | | Asparagine-Linked Glycosylation Protein 6 Homolog2 3 | | Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichylglucosyltransferase1 | | 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 |
Export aliases for ALG6 gene to outside databasesPrevious GC identifers: GC01P063768 GC01P062756 GC01P063191 GC01P063203 GC01P063545 GC01P063605 GC01P061941 |
Summaries
for ALG6 gene(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 ALG6:
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition ofthe first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutationsin this gene are associated with congenital disorders of glycosylation type Ic. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672Function: 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 oligosaccharideMan(9)GlcNAc(2)-PP-Dol
Gene Wiki entry for ALG6
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ALG6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 1p31.3ALG6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for ALG6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672 (See
protein sequence)Recommended Name: Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase Size: 507 amino acids; 58181 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B3KMU2 Q5SXR9 Q9H3I0Explore the universe of human proteins at neXtProt for ALG6: NX_Q9Y672
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y672
4/10 DME Specific Peptides for ALG6 (Q9Y672) (see all 10)
ALG6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_037471.2
ENSEMBL proteins: ENSP00000360149 ENSP00000263440 Reactome Protein details: Q9Y672
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005789 | endoplasmic reticulum membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
ALG6 for ontologies About GeneDecksing
ALG6 Antibody Products:
Assay Products for ALG6: |
Protein
Domains /
Families
for ALG6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALG6 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y672ProtoNet protein and cluster: Q9Y672 1 Blocks protein family: IPB004856 ALG6
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672Similarity: Belongs to the ALG6/ALG8 glucosyltransferase family |
Function
for ALG6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672Function: 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 oligosaccharideMan(9)GlcNAc(2)-PP-DolCatalytic 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 phosphateEnzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.2671
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for ALG6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG6 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016758 | transferase activity, transferring hexosyl groups |
-- | -- | | GO:0046527 | glucosyltransferase activity |
IDA | 10359825 |
ALG6 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ALG6:
|
Pathways & Interactions
for ALG6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Asparagine N-linked glycosylation | | | 2 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | | | 3 | GPCRs, Other | | | 4 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for ALG6
4 
Reactome Pathways for ALG6
2 
Kegg Pathways (Kegg details for ALG6):
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672Pathway: Protein modification; protein glycosylation
ALG6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/63 Interacting proteins for ALG6 (Q9Y6723 ENSP000003601494) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006487 | protein N-linked glycosylation |
IGI | 11106564 | | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
TAS | -- | | GO:0018279 | protein N-linked glycosylation via asparagine |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
ALG6 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALG6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ALG6
1 HMDB Compound for ALG6 About this table
Search CenterWatch for drugs/clinical trials and news about ALG6
|
Transcripts
for ALG6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ALG6 gene: NM_013339.3 Unigene Cluster for ALG6: Asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) Hs.258501 [show with all ESTs]Unigene Representative Sequence: NM_0133396 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000371108(uc021oof.1 uc010oox.2) ENST00000487136 ENST00000263440
ENST00000465969 ENST00000462390 ENST00000494765
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 |
Additional cDNA 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 24/76 AceView cDNA sequences (see all 76): AI151466 BM727901 BU193408 AI633803 AA910174 AU280221 AW002649 AW403508 AI670122 AL561062 CR618543 CR602025 BC001253 CA455164 CB215801 AW438880 AL525016 AA877322 BX483687 AI422330 BE221343 NM_013339 BX385082 BU602699
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
|
Expression
for ALG6 gene
(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
| ALG6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACCACAGG
About this image
See ALG6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALG6
SOURCE GeneReport for Unigene cluster: Hs.258501
SABiosciences Custom PCR Arrays for ALG6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALG6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG6 | | | QIAGEN 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
for ALG6 gene
(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 eukaryotes.
Orthologs for ALG6 gene from 10/33 species (see all 33) 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 |
85.64(n)1
84.58(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 |
-- |
71(a) |
1 ↔ 1 |
4(99309565-99349387) |
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 |
62.24(n)
61.31(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
50.29(n)1
46.49(a)1 |
|
31D113
344091 NM_135549.31 NP_609393.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C08B11.81 , 3 |
Protein C08B11.81 |
36(a)3
50.45(n)1
42.6(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
Alg6p1 |
47.19(n)1
38.07(a)1 |
|
15(329417-331051)4
8541631, 4 NP_014644.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G384601 |
alpha-1,3-glucosyltransferase |
49.46(n)
41.51(a) |
|
833834 NM_001203505.1 NP_001190434.1 |
rice
(Oryza sativa) |
Liliopsida |
-- |
glucosyltransferase, putative, expressed |
34(a) |
1 ↔ 1 |
7(3452912-3456174) |
ENSEMBL Gene Tree for ALG6 (if available)
TreeFam Gene Tree for ALG6 (if available) |
Paralogs
for ALG6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ALG6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ALG6 (63833261 - 63904233 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALG6: --
Human Gene Mutation Database (HGMD): ALG6
Locus Specific Mutation Databases (LSDB): ALG6
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG6 |
|
Disorders
/ Diseases
for ALG6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ALG6 for disorders About GeneDecksing
OMIM gene information: 604566
OMIM disorders: 603147
UniProtKB/Swiss-Prot: ALG6_HUMAN, Q9Y672
Defects in ALG6 are the cause of congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]; also knownas carbohydrate-deficient glycoprotein syndrome type V. CDGs are metabolic deficiencies in glycoprotein biosynthesisthat usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serumglycoproteins. CDG1C patients have muscular hypotonia, show a delayed statomotor development and are mentallyretarded. CDG1C is biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) inthe endoplasmic reticulum
5  diseases for ALG6: About MalaCardscongenital disorder of glycosylation protein-losing enteropathy congenital disorder of glycosylation type 1c pseudotumor cerebri
hypotonia
1 disease from the University of Copenhagen DISEASES database for ALG6:Congenital disorder of glycosylation 2 Novoseek 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
Congenital Disorders of Glycosylation
Export disorders for ALG6 gene to outside databases
|
Publications
for ALG6 gene (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 ALG6 gene, integrated from 9 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 |
- 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. (1999)
- 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. (2002)
- Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PubMed id 10914684)1, 2, 9 Imbach T.... Hennet T. (2000)
- DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PubMed id 12357336)1, 2, 9 Schollen E.... Matthijs G. (2002)
- 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. (2001)
- 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. (2000)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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. (2003)
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External Searches for ALG6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ALG6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ALG6 gene
(According to HUGE)
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Specialized Databases showing ALG6 gene(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
|
| Name | Description |
| PharmGKB entry for ALG6 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG6 | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ |
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About This Section
| 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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Products
for ALG6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ALG6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALG6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG6 | | | OriGene Protein Over-expression Lysate for ALG6 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ALG6 | | OriGene 3'-UTR Clone for ALG6 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ALG6 | | OriGene Custom Protein Services for ALG6 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALG6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALG6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALG6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG6 |
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| | | | Search Tocris compounds for ALG6 |
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 | | | ALG6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG6 |
|  |  |  | | | | Search ThermoFisher Antibodies for ALG6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG6 |
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