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ALG9 Gene

protein-coding   GIFtS: 57
GCID: GC11M111652

ALG9, Alpha-1,2-Mannosyltransferase

(Previous names: disrupted in bipolar affective disorder 1, asparagine-linked...)
(Previous symbol: DIBD1)
  See ALG9-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
ALG9, Alpha-1,2-Mannosyltransferase1 2     Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-11
DIBD11 2 3 5     Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-11
Disrupted In Bipolar Affective Disorder 11 2     LOH11CR1J2
Asparagine-Linked Glycosylation Protein 9 Homolog2 3     Alpha-1,2-Mannosyltransferase ALG92
Disrupted In Bipolar Disorder Protein 12 3     Asparagine-Linked Glycosylation 9 Homolog (S. Cerevisiae, Alpha-
1,2-Mannosyltransferase)2
Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3     Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha-
1,2-Mannosyltransferase)2
Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3     Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog2
CDG1L2 5     Dol-P-Man Dependent Alpha-1,2-Mannosyltransferase2
2-mannosyltransferase1     Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2
Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha 1,2
Mannosyltransferase)1
     Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2
Asparagine-Linked Glycosylation 9, Alpha- 1,2-Mannosyltransferase Homolog
(S. Cerevisiae, Alpha- 1,2-Mannosyltransferase)1
     Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product2
Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog
(S. Cerevisiae)1
     EC 2.4.1.2593
Dol-P-Man Dependent Alpha-11     EC 2.4.1.2613

External Ids:    HGNC: 156721   Entrez Gene: 797962   Ensembl: ENSG000000868487   OMIM: 6069415   UniProtKB: Q9H6U83   

Export aliases for ALG9 gene to outside databases

Previous GC identifer: GC11M111162


(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 ALG9 Gene:
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
encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2008)

GeneCards Summary for ALG9 Gene:
ALG9 (ALG9, alpha-1,2-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG9 include congenital disorder of glycosylation, type il, and bipolar disorder. GO annotations related to this gene include dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity and dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ALG9 gene promoter:
         POU2F1   Nkx2-2   POU2F1a   Nkx2-5   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG9 promoter sequence
   Search Chromatin IP Primers for ALG9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 11q23

ALG9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG9 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M111652:  view genomic region     (about GC identifiers)

Start:
111,652,919 bp from pter      End:
111,742,305 bp from pter
Size:
89,387 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8 (See protein sequence)
Recommended Name: Alpha-1,2-mannosyltransferase ALG9  
Size: 611 amino acids; 69863 Da
Secondary accessions: Q6ZMD5 Q7Z4R4 Q96GS7 Q96PB9 Q9H068
Alternative 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

Explore proteomics data for ALG9 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys49, Lys63, Lys470
  • Glycosylation2 at Asn77, Asn593
  • Modification sites at PhosphoSitePlus

  • See ALG9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ALG9 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ALG9

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

    1 InterPro protein domain:
     IPR005599 GPI_mannosylTrfase

    Graphical View of Domain Structure for InterPro Entry Q9H6U8

    ProtoNet protein and cluster: Q9H6U8

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Similarity: Belongs to the glycosyltransferase 22 family


    Find genes that share domains with ALG9           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG9_HUMAN, Q9H6U8
    Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides
    Catalytic 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 phosphate
    Catalytic 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 phosphate

         Enzyme Numbers (IUBMB): EC 2.4.1.2591 EC 2.4.1.2611

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0052918dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA--
    GO:0052926dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA--
         
    Find genes that share ontologies with ALG9           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG9
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    miRNA
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    miRTarBase miRNAs that target ALG9:
    hsa-mir-26b-5p (MIRT029830)

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    Selected qRT-PCR Assays for microRNAs that regulate ALG9 (see all 95):
    hsa-miR-579 hsa-miR-548j hsa-miR-576-3p hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-520f hsa-miR-128 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidALG9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALG9

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG9


    (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
    ALG9_HUMAN, Q9H6U8: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    extracellular1
    nucleus1
    peroxisome1
    plasma membrane1

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

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

    Find genes that share ontologies with ALG9           About GenesLikeMe


    (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 ALG9 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
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ALG9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ALG9
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG9):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG9
    Interactions:

        Search GeneGlobe Interaction Network for ALG9

    Selected Interacting proteins for ALG9 (Q9H6U83) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=1 
    ENSG00000223367P622693I2D: score=1 
    ENSG00000226225P622693I2D: score=1 
    ENSG00000235650P622693I2D: score=1 
    RPS18P622693I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--

    Find genes that share ontologies with ALG9           About GenesLikeMe



    (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 ALG9



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALG9 gene (4 alternative transcripts): 
    NM_001077690.1  NM_001077691.1  NM_001077692.1  NM_024740.2  

    17 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
    miRNA
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    hsa-miR-579 hsa-miR-548j hsa-miR-576-3p hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-520f hsa-miR-128 hsa-miR-30d
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    Selected AceView cDNA sequences (see all 921):

    BF727452 CR605278 C05629 F16257 BM696587 BE076509 AA371278 AJ708786 
    BU186063 BM456432 C05644 BF726501 F33799 BM697112 BF727016 F27248 
    CD677558 BF724790 CA397455 BX112158 AI720001 F34701 CA393212 BF337516 

    GeneLoc Exon Structure

    Selected 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

    (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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    ALG9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAAATGA
    ALG9 Expression
    About this image

    ALG9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG9 Protein Expression

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Tissue specificity: Ubiquitously expressed; with highest levels in heart, liver and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG9

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG9 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg91 , 5 asparagine-linked glycosylation 9 homolog (yeast, alpha more5
    asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)1
    87.77(n)1
    94.41(a)1
      9 (27.75 cM)5
    1025801  NM_133981.21  NP_598742.11 
     507750195 
    chicken
    (Gallus gallus)
    Aves ALG91 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase more 75.89(n)
    82.82(a)
      428255  XM_004948156.1  XP_004948213.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG96
    ALG9, alpha-1,2-mannosyltransferase
    44(a)
    1 ↔ 1
    GL343521.1(41906-75835)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alg91 ALG9, alpha-1,2-mannosyltransferase 73.47(n)
    78.55(a)
      100497477  XM_004916108.1  XP_004916165.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638202 hypothetical protein MGC63820 72.05(n)   393598  BC056834.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118511 CG11851 50.75(n)
    43.95(a)
      43031  NM_143096.3  NP_651353.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C14A4.31 C14A4.3 48.99(n)
    40.52(a)
      174633  NM_063881.4  NP_496282.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG91 ALG9 49.01(n)
    38.09(a)
      855502   NP_014180.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G169001 AT1G16900 45.42(n)
    35.19(a)
      838261  NM_101551.3  NP_173134.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g02090001 Os01g0209000 46.33(n)
    38.45(a)
      4325533  NM_001048895.1  NP_001042360.1 


    ENSEMBL Gene Tree for ALG9 (if available)
    TreeFam Gene Tree for ALG9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALG9 gene
    1 SIMAP similar gene for ALG9 using alignment to 5 protein entries:     ALG9_HUMAN (see all proteins):
    FDXACB1

    Find genes that share paralogs with ALG9           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ALG9 (see all 1691)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0234104
    Congenital disorder of glycosylation 1L (CDG1L)4--see VAR_0234102 Y C mis40--------
    VAR_0234134
    Congenital disorder of glycosylation 1L (CDG1L)4--see VAR_0234132 E K mis40--------
    rs6004081,2
    C--107598111(-) ttgttC/Tttttt 4 -- int1 trp30--------
    rs348793241,2
    C--107666463(+) AAAAAA/-AAAAC 4 -- us2k12Minor allele frequency- -:0.25NA 4
    rs1903597561,2
    --111516031(+) CCCATA/GTATTA 4 -- ds50010--------
    rs1837152161,2
    --111516052(+) TGCGTC/GGTTTT 4 -- ds50010--------
    rs1878005191,2
    --111516185(+) CTGGAA/GTCAGG 4 -- ds50010--------
    rs799004131,2
    C,F--111516514(+) TCCAAC/TGATGC 4 -- ut313Minor allele frequency- T:0.06CSA WA 122
    rs1386372131,2
    --111516623(+) TGCACG/TGATTA 4 -- ut310--------
    rs1929068401,2
    --111516713(+) CAAATG/TAAAAG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for ALG9 (111652919 - 111742305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALG9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv492CNV Insertion18451855
    nsv832269CNV Loss17160897

    Human Gene Mutation Database (HGMD): ALG9
    Locus Specific Mutation Databases (LSDB): ALG9

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG9
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG9

    (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.)
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    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 to
    bipolar affective disorder
  • Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]: 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

  • 4 diseases for ALG9:    
    About MalaCards
    congenital disorder of glycosylation, type il    bipolar disorder    congenital disorder of glycosylation    frontotemporal lobar degeneration with ubiquitin-positive inclusions

    1 disease from the University of Copenhagen DISEASES database for ALG9:
    Major depressive disorder

    Find genes that share disorders with ALG9           About GenesLikeMe

    4 Novoseek inferred 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
    GeneReviews: ALG9
    Genetic Association Database (GAD): ALG9
    Human Genome Epidemiology (HuGE) Navigator: ALG9 (1 document)

    Export disorders for ALG9 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 ALG9 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ALG9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. (PubMed id 16859551)1, 2, 4, 9 Baysal B.E....Nimgaonkar V.L. (Behav. Brain Funct. 2006)
    2. 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. (Am. J. Hum. Genet. 2004)
    3. 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. (Neurogenetics 2002)
    4. 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. (Am. J. Med. Genet. A 2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Genome Res. 2001)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 79796 HGNC: 15672 AceView: ALG9 Ensembl:ENSG00000086848 euGenes: HUgn79796
    ECgene: ALG9 Kegg: 79796 H-InvDB: ALG9

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ALG9 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG9
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG9[genesymbol]

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