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Aliases for ALG13 Gene

Aliases for ALG13 Gene

  • ALG13, UDP-N-Acetylglucosaminyltransferase Subunit 2 3
  • GLT28D1 3 4 6
  • N-Acetylglucosaminyldiphosphodolichol N-Acetylglucosaminyltransferase 2 3
  • UDP-N-Acetylglucosamine Transferase Subunit ALG13 Homolog 3 4
  • Glycosyltransferase 28 Domain-Containing Protein 1 3 4
  • Asparagine-Linked Glycosylation 13 Homolog 3 4
  • Tudor Domain Containing 13 2 3
  • CXorf45 3 4
  • CDG1S 3 6
  • Putative Bifunctional UDP-N-Acetylglucosamine Transferase And Deubiquitinase ALG13 3
  • Asparagine-Linked Glycosylation 13 Homolog (S. Cerevisiae) 2
  • Hematopoietic Stem/Progenitor Cells Protein MDS031 3
  • Glycosyltransferase 28 Domain Containing 1 2
  • Chromosome X Open Reading Frame 45 2
  • EC 2.4.1.141 4
  • EC 3.4.19.12 4
  • YGL047W 3
  • MDS031 3
  • TDRD13 3

External Ids for ALG13 Gene

Previous HGNC Symbols for ALG13 Gene

  • GLT28D1
  • CXorf45

Previous GeneCards Identifiers for ALG13 Gene

  • GC0XP110811
  • GC0XP110909
  • GC0XP100545

Summaries for ALG13 Gene

Entrez Gene Summary for ALG13 Gene

  • 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]

GeneCards Summary for ALG13 Gene

ALG13 (ALG13, UDP-N-Acetylglucosaminyltransferase Subunit) is a Protein Coding gene. Diseases associated with ALG13 include congenital disorder of glycosylation, type ie and non-syndromic x-linked intellectual disability. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include carbohydrate binding and N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. An important paralog of this gene is OTUD4.

UniProtKB/Swiss-Prot for ALG13 Gene

  • Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities

  • Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway

Gene Wiki entry for ALG13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG13 Gene

Genomics for ALG13 Gene

Regulatory Elements for ALG13 Gene

Genomic Location for ALG13 Gene

Start:
111,665,811 bp from pter
End:
111,760,649 bp from pter
Size:
94,839 bases
Orientation:
Plus strand

Genomic View for ALG13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALG13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG13 Gene

Proteins for ALG13 Gene

  • Protein details for ALG13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP73-ALG13_HUMAN
    Recommended name:
    Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
    Protein Accession:
    Q9NP73
    Secondary Accessions:
    • B1AKD6
    • B1AKM1
    • B2R5L5
    • B7Z6J0
    • B7Z804
    • B7Z847
    • B7Z9A8
    • B7ZAJ1
    • B7ZB57
    • Q17RC3
    • Q5JXY9
    • Q9H5U8

    Protein attributes for ALG13 Gene

    Size:
    1137 amino acids
    Molecular mass:
    126056 Da
    Quaternary structure:
    • Isoform 2 may interact with ALG14.
    SequenceCaution:
    • Sequence=AAI17378.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI17380.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15521.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96874.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH14244.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH14244.1; Type=Erroneous termination; Positions=424; Note=Translated as Cys.; Evidence={ECO:0000305}; Sequence=CAI43016.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM28219.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ALG13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG13 Gene

Proteomics data for ALG13 Gene at MOPED

Post-translational modifications for ALG13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALG13 Gene

Domains for ALG13 Gene

Gene Families for ALG13 Gene

HGNC:
  • OTUD :OTU domain containing
  • TDRD :Tudor domain containing

Protein Domains for ALG13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NP73

UniProtKB/Swiss-Prot:

ALG13_HUMAN :
  • Q9NP73
Domain:
  • Contains 1 OTU domain with intact active sites. No deubiquitinase activity has been detected when tested (PubMed:23827681).
  • Contains 1 OTU domain.
  • Contains 1 Tudor domain.
Family:
  • Belongs to the glycosyltransferase 28 family.
genes like me logo Genes that share domains with ALG13: view

Function for ALG13 Gene

Molecular function for ALG13 Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-D-glucosamine + N-acetyl-D-glucosaminyl-diphosphodolichol = UDP + N,N-diacetylchitobiosyl-diphosphodolichol
UniProtKB/Swiss-Prot CatalyticActivity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)
UniProtKB/Swiss-Prot Function: Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities
UniProtKB/Swiss-Prot Function: Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway

Enzyme Numbers (IUBMB) for ALG13 Gene

Gene Ontology (GO) - Molecular Function for ALG13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with ALG13: view

Phenotypes for ALG13 Gene

genes like me logo Genes that share phenotypes with ALG13: view

miRNA for ALG13 Gene

miRTarBase miRNAs that target ALG13

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ALG13 Gene

Localization for ALG13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG13 Gene

Isoform 2: Endoplasmic reticulum. Note=Could be recruited to the cytosolic face of the endoplasmic reticulum membrane through its interaction with ALG14.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG13 Gene COMPARTMENTS Subcellular localization image for ALG13 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ALG13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with ALG13: view

Pathways for ALG13 Gene

genes like me logo Genes that share pathways with ALG13: view

Gene Ontology (GO) - Biological Process for ALG13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006508 proteolysis IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0030259 lipid glycosylation IEA --
genes like me logo Genes that share ontologies with ALG13: view

Compounds for ALG13 Gene

(4) HMDB Compounds for ALG13 Gene

Compound Synonyms Cas Number PubMed IDs
N,N'-Diacetylchitobiosyldiphosphodolichol
  • Chitobiosyldiphosphodolichol
Not Available
N-Acetyl-D-glucosaminyldiphosphodolichol
  • N-Acetyl-D-glucosaminyl-diphosphodolichol
Not Available
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1
genes like me logo Genes that share compounds with ALG13: view

Transcripts for ALG13 Gene

Unigene Clusters for ALG13 Gene

ALG13, UDP-N-acetylglucosaminyltransferase subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALG13 Gene

No ASD Table

Relevant External Links for ALG13 Gene

GeneLoc Exon Structure for
ALG13
ECgene alternative splicing isoforms for
ALG13

Expression for ALG13 Gene

mRNA expression in normal human tissues for ALG13 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALG13 Gene

SOURCE GeneReport for Unigene cluster for ALG13 Gene Hs.443061

genes like me logo Genes that share expressions with ALG13: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG13 Gene

Orthologs for ALG13 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALG13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG13 35
  • 99.44 (n)
  • 99.12 (a)
cow
(Bos Taurus)
Mammalia ALG13 35
  • 91.09 (n)
  • 86.98 (a)
CXORF45 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG13 35
  • 90.37 (n)
  • 85.37 (a)
ALG13 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg13 16
oppossum
(Monodelphis domestica)
Mammalia ALG13 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC102555242 35
  • 79.75 (n)
  • 69.68 (a)
chicken
(Gallus gallus)
Aves ALG13 35
  • 68.96 (n)
  • 63.1 (a)
ALG13 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia otud4 35
  • 66.23 (n)
  • 61.19 (a)
zebrafish
(Danio rerio)
Actinopterygii alg13 35
  • 56.12 (n)
  • 49.3 (a)
alg13 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3251 36
  • 25 (a)
ManyToMany
otu 36
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG13 38
Species with no ortholog for ALG13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALG13 Gene

ENSEMBL:
Gene Tree for ALG13 (if available)
TreeFam:
Gene Tree for ALG13 (if available)

Paralogs for ALG13 Gene

Paralogs for ALG13 Gene

Selected SIMAP similar genes for ALG13 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ALG13: view

Variants for ALG13 Gene

Sequence variations from dbSNP and Humsavar for ALG13 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1078540 -- 111,707,814(-) AACTC(A/G)GGGCA intron-variant, upstream-variant-2KB
rs2474281 -- 111,694,530(+) TTTGT(A/G)GTAAT intron-variant
rs2495809 -- 111,680,106(+) AGACG(C/T)GGCCT upstream-variant-2KB
rs2495810 -- 111,691,905(+) TCTTA(G/T)TTGTA intron-variant
rs3027817 -- 111,760,893(-) AAAAA(A/C)ACACA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ALG13 Gene

Variant ID Type Subtype PubMed ID
esv2740380 CNV Deletion 23290073

Relevant External Links for ALG13 Gene

HapMap Linkage Disequilibrium report
ALG13
Human Gene Mutation Database (HGMD)
ALG13
Locus Specific Mutation Databases (LSDB)
ALG13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG13 Gene

Disorders for ALG13 Gene

(1) OMIM Diseases for ALG13 Gene (300776)

UniProtKB/Swiss-Prot

ALG13_HUMAN
  • Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]: 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. {ECO:0000269 PubMed:22492991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALG13 Gene

genes like me logo Genes that share disorders with ALG13: view

Publications for ALG13 Gene

  1. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. (PMID: 24501762) Bissar-Tadmouri N. … Kantarci S. (Am. J. Med. Genet. A 2014) 2 3
  2. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. (PMID: 16100110) Gao X.-D. … Dean N. (J. Biol. Chem. 2005) 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ALG13 Gene

Sources for ALG13 Gene

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