ALG8 Gene
protein-coding GIFtS: 60
GCID: GC11M077811
|
|
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase...(Previous names: asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)...)
| |
Aliases
for ALG8 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 8, Alpha-1,3-Glucosyltransferase Homolog (S.Cerevisiae)1 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 | | 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-Glucosyltransferase1 | | Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-Dolichyl Glucosyltransferase2 3 | | Probable Dolichyl Pyrophosphate Glc1Man9GlcNAc2 Alpha-1,3-Glucosyltransferase2 | | CDG1H2 5 | | EC 2.4.1.2653 | | MGC28401 | | EC 2.4.18 |
Export aliases for ALG8 gene to outside databasesPrevious GC identifers: GC11M077538 GC11M077489 GC11M074110 |
Summaries
for ALG8 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 ALG8:
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition ofthe 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). Alternativelyspliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2Function: 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 oligosaccharideGlc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity)
Gene Wiki entry for ALG8
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ALG8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11q14.1ALG8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
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Proteins
for ALG8 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: ALG8_HUMAN, Q9BVK2 (See
protein sequence)Recommended Name: Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase Size: 526 amino acids; 60088 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=CAA12176.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NDW6 O60860Alternative splicing: 2 isoforms: Q9BVK2-1 Q9BVK2-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALG8: NX_Q9BVK2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BVK2
4/8 DME Specific Peptides for ALG8 (Q9BVK2) (see all 8)
ALG8 Protein expression data from MOPED and PaxDb: About this image 
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
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
ALG8 for ontologies About GeneDecksing
ALG8 Antibody Products:
Assay Products for ALG8: |
Protein
Domains /
Families
for ALG8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALG8 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BVK2ProtoNet protein and cluster: Q9BVK2 1 Blocks protein family: IPB004856 ALG6
UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2Similarity: Belongs to the ALG6/ALG8 glucosyltransferase family |
Function
for ALG8 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: ALG8_HUMAN, Q9BVK2Function: 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 oligosaccharideGlc(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 phosphateEnzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.2651
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 ALG8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG8 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for ALG8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG8 |
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:0000033 | alpha-1,3-mannosyltransferase activity |
IMP | 12480927 | | GO:0016758 | transferase activity, transferring hexosyl groups |
-- | -- |
ALG8 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ALG8:
|
Pathways & Interactions
for ALG8 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 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for ALG8
4 
Reactome Pathways for ALG8
2 
Kegg Pathways (Kegg details for ALG8):
UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2Pathway: Protein modification; protein glycosylation
ALG8 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 24)
5/50 Interacting proteins for ALG8 (Q9BVK23 ENSP000002996264) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
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 |
IMP | 12480927 | | 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 | -- |
ALG8 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALG8 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 ALG8
1 HMDB Compound for ALG8 About this table
Search CenterWatch for drugs/clinical trials and news about ALG8
|
Transcripts
for ALG8 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 ALG8 gene (3 alternative transcripts): NM_001007027.2 NM_024079.4 NM_001007028.1 Unigene Cluster for ALG8: Asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) Hs.503368 [show with all ESTs]Unigene Representative Sequence: NM_00100702718/20 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG8 (see all 3)
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 |
Additional cDNA 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 24/276 AceView cDNA sequences (see all 276): BM804130 CR620133 BU623765 CA495293 NM_024079 AI221246 AW960744 BM711882 BM924807 BG721569 CR607665 CA489630 CB155957 AL520279 CK820039 CA489742 CK820038 BM761584 CB529726 CR595136 BX282681 AA055337 BX397647 BM972979
GeneLoc Exon Structure
5/11 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
|
Expression
for ALG8 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
| ALG8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTACTATTCA
About this image
See ALG8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALG8
SOURCE GeneReport for Unigene cluster: Hs.503368
SABiosciences Custom PCR Arrays for ALG8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALG8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG8 | | | QIAGEN 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
for ALG8 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 ALG8 gene from 9/34 species (see all 34) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ALG81 |
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase more |
74.5(n)
78.06(a) |
|
428097 XM_425656.3 XP_425656.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ALG86 |
-- |
77(a) |
1 ↔ 1 |
GL343337.1(515732-533222) |
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 |
53.32(n)
52.75(a) |
|
31623 NM_132127.3 NP_572355.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
C08H9.36 |
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 al... |
24(a) |
1 ↔ 1 |
II(9882669-9886383) |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
ALG8(YOR067C)4
ALG81 |
Glucosyl transferase, involved in N-linked glycosylation; more4
Alg8p1 |
51.98(n)1
42.59(a)1 |
|
15(453462-451729)4
8542331, 4 NP_014710.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G446601 |
alpha-1,3-glucosyltransferase |
51.49(n)
47.66(a) |
|
819074 NM_130030.5 NP_181994.5 |
rice
(Oryza sativa) |
Liliopsida |
Os02g06885001 |
hypothetical protein |
48.83(n)
43.39(a) |
|
4330363 NM_001054314.1 NP_001047779.1 |
ENSEMBL Gene Tree for ALG8 (if available)
TreeFam Gene Tree for ALG8 (if available) |
Paralogs
for ALG8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ALG8 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 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ALG8 (77811982 - 77850706 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALG8: --
Human Gene Mutation Database (HGMD): ALG8
Locus Specific Mutation Databases (LSDB): ALG8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG8 |
|
Disorders
/ Diseases
for ALG8 gene
(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
|
ALG8 for disorders About GeneDecksing
OMIM gene information: 608103
OMIM disorders: 608104
UniProtKB/Swiss-Prot: ALG8_HUMAN, Q9BVK2
Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]. CDGs are afamily of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized byunder-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, suchas disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulationdisorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins duringembryonic development, differentiation, and maintenance of cell functions
3  diseases for ALG8: About MalaCardscongenital disorder of glycosylation congenital disorder of glycosylation type 1h hypotonia
1 disease from the University of Copenhagen DISEASES database for ALG8:Congenital disorder of glycosylation GeneTests: ALG8
Congenital Disorders of Glycosylation
Human Genome Epidemiology (HuGE) Navigator: ALG8 (1 document)
Export disorders for ALG8 gene to outside databases
|
Publications
for ALG8 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
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PubMed articles for ALG8 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with ALG8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2004)
- 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)
- 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. (2003)
- Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
- 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. (2012)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
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External Searches for ALG8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ALG8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ALG8 gene
(According to HUGE)
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Specialized Databases showing ALG8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for ALG8 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG8 | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ |
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| 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
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Products
for ALG8 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
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ALG8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALG8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG8 | | | OriGene Protein Over-expression Lysate for ALG8 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ALG8 | | OriGene 3'-UTR Clone for ALG8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG8 | | | 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,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG8 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG8 |
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