Human Gene ALG13 (ENST00000394780.8) from GENCODE V44
  Description: Homo sapiens ALG13 UDP-N-acetylglucosaminyltransferase subunit (ALG13), transcript variant 18, mRNA. (from RefSeq NM_001324292)
RefSeq Summary (NM_001099922): The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009].
Gencode Transcript: ENST00000394780.8
Gencode Gene: ENSG00000101901.13
Transcript (Including UTRs)
   Position: hg38 chrX:111,681,170-111,760,649 Size: 79,480 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg38 chrX:111,681,219-111,759,999 Size: 78,781 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:111,681,170-111,760,649)mRNA (may differ from genome)Protein (1137 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALG13_HUMAN
DESCRIPTION: RecName: Full=UDP-N-acetylglucosamine transferase subunit ALG13 homolog; EC=2.4.1.141; AltName: Full=Asparagine-linked glycosylation 13 homolog; AltName: Full=Glycosyltransferase 28 domain-containing protein 1;
FUNCTION: Isoform 2 may be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.
CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + N-acetyl-D- glucosaminyl-diphosphodolichol = UDP + N,N'-diacetylchitobiosyl- diphosphodolichol.
SUBUNIT: Isoform 2 may interact with ALG14 (By similarity).
SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum (Probable). Note=Could be recruited to the cytosolic face of the endoplasmic reticulum membrane through its interaction with ALG14.
SIMILARITY: Belongs to the glycosyltransferase 28 family.
SIMILARITY: Contains 1 OTU domain.
SIMILARITY: Contains 1 Tudor domain.
SEQUENCE CAUTION: Sequence=AAI17378.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI17380.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15521.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD96874.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous termination; Positions=424; Note=Translated as Cys; Sequence=CAI43016.2; Type=Erroneous gene model prediction; Sequence=CAM28219.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GLT28D1";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ALG13
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 36* (1730), x-linked non-specific intellectual disability* (80), lennox-gastaut syndrome (4), west syndrome (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.98 RPKM in Spleen
Total median expression: 300.96 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 -15.7049-0.320 Picture PostScript Text
3' UTR -135.30650-0.208 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
IPR007235 - Glyco_trans_28_C
IPR003323 - OTU
IPR002999 - Tudor

Pfam Domains:
PF04101 - Glycosyltransferase family 28 C-terminal domain
PF02338 - OTU-like cysteine protease

ModBase Predicted Comparative 3D Structure on Q9NP73
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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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups
GO:0016787 hydrolase activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity

Biological Process:
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0006508 proteolysis
GO:0008152 metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0043541 UDP-N-acetylglucosamine transferase complex


-  Descriptions from all associated GenBank mRNAs
  AK300394 - Homo sapiens cDNA FLJ50394 complete cds.
AK302729 - Homo sapiens cDNA FLJ61626 complete cds.
AK312229 - Homo sapiens cDNA, FLJ92520, Homo sapiens uncharacterized hematopoietic stem/progenitor cellsprotein MDS031 (MDS031), mRNA.
AK311608 - Homo sapiens cDNA, FLJ18650.
BC005336 - Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae), mRNA (cDNA clone MGC:12423 IMAGE:3996922), complete cds.
AF220051 - Homo sapiens uncharacterized hematopoietic stem/progenitor cells protein MDS031 mRNA, complete cds.
AK316306 - Homo sapiens cDNA, FLJ79205 complete cds.
KJ899580 - Synthetic construct Homo sapiens clone ccsbBroadEn_08974 ALG13 gene, encodes complete protein.
AK316522 - Homo sapiens cDNA, FLJ79421 complete cds.
AK304712 - Homo sapiens cDNA FLJ58392 complete cds.
AK302890 - Homo sapiens cDNA FLJ52583 complete cds.
AK223154 - Homo sapiens mRNA for chromosome X open reading frame 45 variant, clone: LNG00903.
AK026671 - Homo sapiens cDNA: FLJ23018 fis, clone LNG00903.
BC117377 - Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150986 IMAGE:40125928), complete cds.
BC117379 - Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150988 IMAGE:40125930), complete cds.
KJ900859 - Synthetic construct Homo sapiens clone ccsbBroadEn_10253 ALG13 gene, encodes complete protein.
HQ258248 - Synthetic construct Homo sapiens clone IMAGE:100072557 Unknown protein gene, encodes complete protein.
U00944 - Human clone A9A2BRB6 (CAC)n/(GTG)n repeat-containing mRNA.
JD148511 - Sequence 129535 from Patent EP1572962.
JD345987 - Sequence 327011 from Patent EP1572962.
JD367768 - Sequence 348792 from Patent EP1572962.
JD110762 - Sequence 91786 from Patent EP1572962.

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

BioCyc Knowledge Library
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS - protein N-glycosylation initial phase (eukaryotic)

Reactome (by CSHL, EBI, and GO)

Protein Q9NP73 (Reactome details) participates in the following event(s):

R-HSA-446207 ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
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: ALG13_HUMAN, B1AKD6, B1AKM1, B2R5L5, B7Z6J0, B7Z804, B7Z847, B7Z9A8, B7ZAJ1, B7ZB57, CXorf45, ENST00000394780.1, ENST00000394780.2, ENST00000394780.3, ENST00000394780.4, ENST00000394780.5, ENST00000394780.6, ENST00000394780.7, GLT28D1, MDS031, NM_001324292, Q17RC3, Q5JXY9, Q9H5U8, Q9NP73, uc011msy.1, uc011msy.2, uc011msy.3, uc011msy.4
UCSC ID: ENST00000394780.8
RefSeq Accession: NM_001099922
Protein: Q9NP73 (aka ALG13_HUMAN)
CCDS: CCDS55477.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG13:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

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