Human Gene ALG13 (ENST00000394780.8_7) from GENCODE V48lift37

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Description: ALG13 UDP-N-acetylglucosaminyltransferase subunit, transcript variant 18 (from RefSeq NM_001324292.2)
Gencode Transcript: ENST00000394780.8_7
Gencode Gene: ENSG00000101901.13_13
Transcript (Including UTRs)
Position: hg19 chrX:110,924,398-111,003,877 Size: 79,480 Total Exon Count: 27 Strand: +
Coding Region
Position: hg19 chrX:110,924,447-111,003,227 Size: 78,781 Coding Exon Count: 27

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	GeneReviews	Model Information
Methods

Data last updated at UCSC: 2025-04-10 15:10:12

Sequence and Links to Tools and Databases

Genomic Sequence (chrX:110,924,398-111,003,877)			mRNA (may differ from genome)		Protein (1137 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
Malacards	MGI	neXtProt	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	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 D013749 Tetrachlorodibenzodioxin C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl D002117 Calcitriol D003300 Copper D003993 Dibutyl Phthalate D006861 Hydrogen Peroxide D015474 Isotretinoin C558013 NSC 689534 D010795 Phthalic Acids D011794 Quercetin more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-15.70	49	-0.320	Picture	PostScript	Text
3' UTR	-135.30	650	-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:
PF02338 - OTU-like cysteine protease
PF04101 - Glycosyltransferase family 28 C-terminal domain

SCOP Domains:
63748 - Tudor/PWWP/MBT
53756 - UDP-Glycosyltransferase/glycogen phosphorylase
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on Q9NP73


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD

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


	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, uc318wwy.1, uc318wwy.2 UCSC ID: ENST00000394780.8_7 RefSeq Accession: NM_001099922.3 Protein: Q9NP73 (aka ALG13_HUMAN)

GeneReviews for This Gene


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

Gene Model Information


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Methods, Credits, and Use Restrictions


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