ALG9 Gene
protein-coding GIFtS: 55
GCID: GC11M111652
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|
ALG9, alpha-1,2-mannosyltransferase(Previous names: disrupted in bipolar affective disorder 1, asparagine-linked...)
(Previous symbol: DIBD1)
| |
Aliases
for ALG9 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ALG9, Alpha-1,2-Mannosyltransferase1 2 | | LOH11CR1J2 | | DIBD11 2 3 5 | | Alpha-1,2-Mannosyltransferase ALG92 | | Disrupted In Bipolar Affective Disorder 11 2 | | Asparagine-Linked Glycosylation 9 Homolog (S. Cerevisiae, Alpha-1,2-Mannosyltransferase)2 | | Asparagine-Linked Glycosylation Protein 9 Homolog2 3 | | Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha-1,2-Mannosyltransferase)2 | | Disrupted In Bipolar Disorder Protein 12 3 | | Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog2 | | Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3 | | Dol-P-Man Dependent Alpha-1,2-Mannosyltransferase2 | | Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3 | | Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2 | | CDG1L2 5 | | Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2 | | Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha 1,2Mannosyltransferase)1 | | Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product2 | | Asparagine-Linked Glycosylation 9, Alpha- 1,2-Mannosyltransferase Homolog (S.Cerevisiae, Alpha- 1,2-Mannosyltransferase)1 | | EC 2.4.1.2593 | | Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog (S.Cerevisiae)1 | | EC 2.4.1.2613 |
Export aliases for ALG9 gene to outside databasesPrevious GC identifer: GC11M111162 |
Summaries
for ALG9 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 ALG9:
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly.Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encodingdifferent isoforms have been found for this gene. (provided by RefSeq, Dec 2008)
UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides
Gene Wiki entry for ALG9
|
Genomic Views
for ALG9 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_033899.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ALG9 gene promoter:
POU2F1 Nkx2-2 POU2F1a Nkx2-5 Gfi-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ALG9
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG9 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.1 HGNC cytogenetic band: 11q23ALG9 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 GC11M111652: view genomic region
(about GC identifiers)
Start:
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111,652,919 bp from pter |
End:
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111,742,305 bp from pter |
Size:
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89,387 bases |
Orientation:
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minus strand |
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Proteins
for ALG9 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: ALG9_HUMAN, Q9H6U8 (See
protein sequence)Recommended Name: Alpha-1,2-mannosyltransferase ALG9 Size: 611 amino acids; 69863 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Secondary accessions: Q6ZMD5 Q7Z4R4 Q96GS7 Q96PB9 Q9H068Alternative splicing: 4 isoforms: Q9H6U8-1 Q9H6U8-2 Q9H6U8-3 Q9H6U8-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALG9: NX_Q9H6U8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H6U8
ALG9 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001071158.1 NP_001071159.1 NP_001071160.1 NP_079016.2
ENSEMBL proteins: ENSP00000432442 ENSP00000436798 ENSP00000435517 ENSP00000381090 ENSP00000437211 Reactome Protein details: Q9H6U8
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:0005789 | endoplasmic reticulum membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- | | GO:0031227 | intrinsic to endoplasmic reticulum membrane |
IEA | -- |
ALG9 for ontologies About GeneDecksing
ALG9 Antibody Products:
Assay Products for ALG9: |
Protein
Domains /
Families
for ALG9 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALG9 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H6U8ProtoNet protein and cluster: Q9H6U8 UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8Similarity: Belongs to the glycosyltransferase 22 family |
Function
for ALG9 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: ALG9_HUMAN, Q9H6U8Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharidesCatalytic activity: Dolichyl beta-D-mannosyl phosphate +D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol=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->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol+ dolichyl phosphateCatalytic activity: Dolichyl beta-D-mannosyl 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->6))-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol=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 2.4.1.2591 EC 2.4.1.2611
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 ALG9 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG9 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for ALG9 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG9 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG9 |
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:0052918 | dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity |
IEA | -- | | GO:0052926 | dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity |
IEA | -- |
ALG9 for ontologies About GeneDecksing
|
Pathways & Interactions
for ALG9 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
4 
Reactome Pathways for ALG9
2 
Kegg Pathways (Kegg details for ALG9):
UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8Pathway: Protein modification; protein glycosylation
ALG9 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG9
5/67 Interacting proteins for ALG9 (Q9H6U83) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
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:0006488 | dolichol-linked oligosaccharide biosynthetic process |
TAS | -- | | GO:0006506 | GPI anchor biosynthetic process |
IEA | -- | | GO:0018279 | protein N-linked glycosylation via asparagine |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
ALG9 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALG9 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 ALG9
Search CenterWatch for drugs/clinical trials and news about ALG9
|
Transcripts
for ALG9 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 ALG9 gene (4 alternative transcripts): NM_001077690.1 NM_001077691.1 NM_001077692.1 NM_024740.2 Unigene Cluster for ALG9: Asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) Hs.503850 [show with all ESTs]Unigene Representative Sequence: NM_00107769117 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000532425(uc001ply.3 uc001plz.3 uc021qql.1 uc021qqm.1 uc010rwn.2 uc010rwo.2)
ENST00000527212 ENST00000524457 ENST00000526272 ENST00000532374 ENST00000524671
ENST00000531154 ENST00000398006 ENST00000527228(uc009yyh.1) ENST00000525910
ENST00000530851 ENST00000527883 ENST00000527294 ENST00000527714 ENST00000524386
ENST00000529754 ENST00000530723
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG9 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG9 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): ALG9 (NM_001077690) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALG9 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG9 |
Additional cDNA sequence: AB096249.1 AF395532.1 AF454937.1 AK025214.1 AK025498.1 AK172828.1 AK225261.1 AK298811.1 AL136927.1 BC009255.2 15 DOTS entries: DT.100786164 DT.100786162 DT.92426229 DT.207051 DT.92426228 DT.99997332 DT.120750615 DT.75101345 DT.95169459 DT.92426224 DT.120750587 DT.120750616 DT.120750687 DT.120750695 DT.95169455 24/921 AceView cDNA sequences (see all 921): AK097483 BX369641 BU631207 BF727452 BQ015100 BF447235 BF726501 BF727006 BF726412 BF726460 H43615 BM704981 F29556 F22794 AI676170 F21491 BU752237 AA322276 BF726243 BF726448 BF726927 BF726795 AL600634 BF726332
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ALG9 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | - | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ALG9
|
Expression
for ALG9 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
| ALG9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCAAATGA
About this image
See ALG9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALG9
SOURCE GeneReport for Unigene cluster: Hs.503850
UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8Tissue specificity: Ubiquitously expressed; with highest levels in heart, liver and pancreas
SABiosciences Custom PCR Arrays for ALG9
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG9
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALG9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALG9 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG9 |
Orthologs
for ALG9 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 ALG9 gene from 9/31 species (see all 31) About this table
ENSEMBL Gene Tree for ALG9 (if available)
TreeFam Gene Tree for ALG9 (if available) |
Paralogs
for ALG9 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ALG9 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 ALG9 (111652919 - 111742305 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALG9: --
Human Gene Mutation Database (HGMD): ALG9
Locus Specific Mutation Databases (LSDB): ALG9
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG9 |
|
Disorders
/ Diseases
for ALG9 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
|
ALG9 for disorders About GeneDecksing
OMIM gene information: 606941
OMIM disorders: 608776
UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
Note=A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder.Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition tobipolar affective disorder Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]. 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
8  diseases for ALG9: About MalaCardsbipolar affective disorder congenital disorder of glycosylation bipolar disorder congenital disorder of glycosylation type 1l
pericardial effusion bipolar i disorder esotropia hypotonia
1 disease from the University of Copenhagen DISEASES database for ALG9:Bipolar I disorder 4 Novoseek disease relationships for ALG9 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| congenital disorders |
83 |
1 |
16859551 (1) |
| hepatomegaly |
61.9 |
2 |
15148656 (1), 16859551 (1) |
| developmental delay |
59.8 |
2 |
15148656 (1), 16859551 (1) |
| bipolar disorder |
49.2 |
4 |
16859551 (3) |
GeneTests: ALG9
Congenital Disorders of Glycosylation
Human Genome Epidemiology (HuGE) Navigator: ALG9 (1 document)
Export disorders for ALG9 gene to outside databases
|
Publications
for ALG9 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 ALG9 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with ALG9) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. (PubMed id 15148656)1, 2, 3, 9 Frank C.G....Hennet T. (2004)
- A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. (PubMed id 12030331)1, 2, 3, 9 Baysal B.E.... Detera-Wadleigh S.D. (2002)
- Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. (PubMed id 16859551)1, 2, 9 Baysal B.E....Nimgaonkar V.L. (2006)
- CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. (PubMed id 15945070)1, 2, 9 Weinstein M.... Poplawski N. (2005)
- 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)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Quality control of glycoproteins bearing truncated gl ycans in an ALG9-defective (CDG-IL) patient. (PubMed id 19451548)1 Vleugels W....Foulquier F. (2009)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
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External Searches for ALG9 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ALG9 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ALG9 gene
(According to HUGE)
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Specialized Databases showing ALG9 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 ALG9 | Pharmacogenomics, SNPs, Pathways | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG9 | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG9 |
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About This Section
| Patent Information for ALG9 gene:
Search GeneIP for patents involving ALG9
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ALG9 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 ALG9 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALG9 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG9 | | | OriGene Protein Over-expression Lysate for ALG9 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ALG9 | | OriGene 3'-UTR Clone for ALG9 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG9 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG9 | | | 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 ALG9 | | OriGene Custom Protein Services for ALG9 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALG9 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG9 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG9 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALG9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALG9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG9 |
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| | | | Search Tocris compounds for ALG9 |
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 | | | ALG9 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG9 |
|  |  |  | | | | ThermoFisher Antibody for ALG9 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG9 |
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