Human Gene ALG9 (uc021qql.1)
  Description: Homo sapiens ALG9, alpha-1,2-mannosyltransferase (ALG9), transcript variant 2, mRNA.
RefSeq Summary (NM_001077690): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:111,652,919-111,742,305 Size: 89,387 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr11:111,657,121-111,731,321 Size: 74,201 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:111,652,919-111,742,305)mRNA (may differ from genome)Protein (611 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALG9_HUMAN
DESCRIPTION: RecName: Full=Alpha-1,2-mannosyltransferase ALG9; EC=2.4.1.259; EC=2.4.1.261; AltName: Full=Asparagine-linked glycosylation protein 9 homolog; AltName: Full=Disrupted in bipolar disorder protein 1; AltName: Full=Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; AltName: Full=Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;
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.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Ubiquitously expressed; with highest levels in heart, liver and pancreas.
DISEASE: 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.
DISEASE: Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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.
SIMILARITY: Belongs to the glycosyltransferase 22 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG9";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG9";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ALG9
CDC HuGE Published Literature: ALG9

-  MalaCards Disease Associations
  MalaCards Gene Search: ALG9
Diseases sorted by gene-association score: congenital disorder of glycosylation, type il* (1229), gillessen-kaesbach-nishimura syndrome* (920)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.40 RPKM in Pituitary
Total median expression: 107.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -224.70613-0.367 Picture PostScript Text
3' UTR -1244.084202-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005599 - GPI_mannosylTrfase

Pfam Domains:
PF03901 - Alg9-like mannosyltransferase family

ModBase Predicted Comparative 3D Structure on Q9H6U8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserGenome Browser
Gene Details   Gene DetailsGene Details
Gene Sorter   Gene SorterGene Sorter
  Ensembl WormBaseSGD
  Protein Sequence Protein SequenceProtein Sequence
  Alignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000026 alpha-1,2-mannosyltransferase activity
GO:0000030 mannosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0052918 dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity
GO:0052926 dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0097502 mannosylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KJ894734 - Synthetic construct Homo sapiens clone ccsbBroadEn_04128 ALG9 gene, encodes complete protein.
AF395532 - Homo sapiens DIBD1 (DIBD1) mRNA, complete cds.
AK172828 - Homo sapiens cDNA FLJ23989 fis, clone HRC04156.
AF454937 - Homo sapiens DIBD1 B mRNA, complete cds.
AL136927 - Homo sapiens mRNA; cDNA DKFZp586M2420 (from clone DKFZp586M2420).
BC009255 - Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone MGC:4563 IMAGE:3029372), complete cds.
AK225261 - Homo sapiens mRNA for Alpha-1,2-mannosyltransferase ALG9 variant, clone: DMC06487.
AK025498 - Homo sapiens cDNA: FLJ21845 fis, clone HEP01884.
AK302630 - Homo sapiens cDNA FLJ58308 complete cds, highly similar to Alpha-1,2-mannosyltransferase ALG9 (EC 2.4.1.-).
DQ892761 - Synthetic construct clone IMAGE:100005391; FLH189442.01X; RZPDo839F0374D asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) (ALG9) gene, encodes complete protein.
DQ896006 - Synthetic construct Homo sapiens clone IMAGE:100010466; FLH189438.01L; RZPDo839F0364D asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) (ALG9) gene, encodes complete protein.
KU178783 - Homo sapiens asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein isoform 1 (ALG9) mRNA, complete cds.
KU178784 - Homo sapiens asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein isoform 2 (ALG9) mRNA, complete cds.
AM393011 - Synthetic construct Homo sapiens clone IMAGE:100002437 for hypothetical protein (ALG9 gene).
AM393178 - Synthetic construct Homo sapiens clone IMAGE:100002436 for hypothetical protein (ALG9 gene).
AB527104 - Synthetic construct DNA, clone: pF1KE0327, Homo sapiens ALG9 gene for asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog, without stop codon, in Flexi system.
AK298811 - Homo sapiens cDNA FLJ60796 complete cds, highly similar to Alpha-1,2-mannosyltransferase ALG9 (EC 2.4.1.-).
LF208486 - JP 2014500723-A/15989: Polycomb-Associated Non-Coding RNAs.
AB096249 - Homo sapiens LOH11CR1J gene, loss of heterozygosity, 11, chromosomal region 1 gene J product.
JD022782 - Sequence 3806 from Patent EP1572962.
JD030763 - Sequence 11787 from Patent EP1572962.
JD033061 - Sequence 14085 from Patent EP1572962.
JD095342 - Sequence 76366 from Patent EP1572962.
JD337628 - Sequence 318652 from Patent EP1572962.
JD533892 - Sequence 514916 from Patent EP1572962.
JD371306 - Sequence 352330 from Patent EP1572962.
JD514459 - Sequence 495483 from Patent EP1572962.
JD414517 - Sequence 395541 from Patent EP1572962.
JD524728 - Sequence 505752 from Patent EP1572962.
JD352502 - Sequence 333526 from Patent EP1572962.
JD346780 - Sequence 327804 from Patent EP1572962.
JD415022 - Sequence 396046 from Patent EP1572962.
JD312246 - Sequence 293270 from Patent EP1572962.
JD080204 - Sequence 61228 from Patent EP1572962.
JD379772 - Sequence 360796 from Patent EP1572962.
JD120605 - Sequence 101629 from Patent EP1572962.
JD415021 - Sequence 396045 from Patent EP1572962.
JD072285 - Sequence 53309 from Patent EP1572962.
JD225342 - Sequence 206366 from Patent EP1572962.
JD523106 - Sequence 504130 from Patent EP1572962.
JD161678 - Sequence 142702 from Patent EP1572962.
JD153330 - Sequence 134354 from Patent EP1572962.
JD198496 - Sequence 179520 from Patent EP1572962.
JD272083 - Sequence 253107 from Patent EP1572962.
JD227660 - Sequence 208684 from Patent EP1572962.
JD405653 - Sequence 386677 from Patent EP1572962.
JD523105 - Sequence 504129 from Patent EP1572962.
JD547692 - Sequence 528716 from Patent EP1572962.
JD547691 - Sequence 528715 from Patent EP1572962.
JD161677 - Sequence 142701 from Patent EP1572962.
MA444063 - JP 2018138019-A/15989: Polycomb-Associated Non-Coding RNAs.
LF208484 - JP 2014500723-A/15987: Polycomb-Associated Non-Coding RNAs.
LF376943 - JP 2014500723-A/184446: Polycomb-Associated Non-Coding RNAs.
AK308025 - Homo sapiens cDNA, FLJ97973.
CU679277 - Synthetic construct Homo sapiens gateway clone IMAGE:100019950 5' read ALG9 mRNA.
JD342635 - Sequence 323659 from Patent EP1572962.
MA444061 - JP 2018138019-A/15987: Polycomb-Associated Non-Coding RNAs.
MA612520 - JP 2018138019-A/184446: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q9H6U8 (Reactome details) participates in the following event(s):

R-HSA-446215 ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1
R-HSA-446216 ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ALG9_HUMAN, DIBD1, NM_001077690, NP_001071158, Q6ZMD5, Q7Z4R4, Q96GS7, Q96PB9, Q9H068, Q9H6U8
UCSC ID: uc021qql.1
RefSeq Accession: NM_001077690
Protein: Q9H6U8 (aka ALG9_HUMAN)
CCDS: CCDS41714.1, CCDS53709.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG9:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)
pkd-ad (Polycystic Kidney Disease, Autosomal Dominant)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001077690.1
exon count: 15CDS single in 3' UTR: no RNA size: 6137
ORF size: 1323CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2393.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 92# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.