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Aliases for ALG13 Gene

Aliases for ALG13 Gene

  • ALG13, UDP-N-Acetylglucosaminyltransferase Subunit 2 3 5
  • 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
  • GLT28D1 3 4
  • 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
  • EIEE36 3
  • MDS031 3
  • TDRD13 3
  • CDG1S 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 Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include poly(A) RNA binding and cysteine-type peptidase 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

Enhancers for ALG13 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALG13 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALG13 Gene

Chromosome:
X
Start:
111,665,811 bp from pter
End:
111,764,164 bp from pter
Size:
98,354 bases
Orientation:
Plus strand

Genomic View for ALG13 Gene

Genes around ALG13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for ALG13 Gene

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 :
  • Contains 1 OTU domain with intact active sites. No deubiquitinase activity has been detected when tested (PubMed:23827681).
  • Belongs to the glycosyltransferase 28 family.
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:0008234 cysteine-type peptidase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with ALG13: view
genes like me logo Genes that share phenotypes with ALG13: view

Human Phenotype Ontology for ALG13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ALG13

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for ALG13 Gene

Pathways & Interactions 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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ALG13: view

No data available for SIGNOR curated interactions for ALG13 Gene

Drugs & Compounds for ALG13 Gene

(1) Drugs for ALG13 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(3) Additional Compounds for ALG13 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N,N'-Diacetylchitobiosyldiphosphodolichol
  • Chitobiosyldiphosphodolichol
  • N,N'-Diacetylchitobiosyldiphosphodolichol
N-Acetyl-D-glucosaminyldiphosphodolichol
  • N-Acetyl-D-glucosaminyl-diphosphodolichol
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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
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:

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for ALG13 Gene

This gene is overexpressed in Skin (13.2), Salivary gland (7.2), and Stomach (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ALG13: view

Protein tissue co-expression partners for ALG13 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia ALG13 35
  • 99.44 (n)
  • 99.12 (a)
rat
(Rattus norvegicus)
Mammalia LOC102555242 35
  • 79.75 (n)
  • 69.68 (a)
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
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)
  • mouse (Mus musculus)
  • 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

(1) 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
VAR_069218 Congenital disorder of glycosylation 1S (CDG1S)
VAR_069412 -
rs747709416 -- 111,735,012(+) ATGTG(-/TTGT)TTGTT intron-variant
rs747719845 -- 111,747,610(+) GCCTC(C/T)TGAGC intron-variant
rs747722414 -- 111,726,992(+) TATGT(C/G)TAATG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2740380 CNV Deletion 23290073

Variation tolerance for ALG13 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG13 Gene

Human Gene Mutation Database (HGMD)
ALG13

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

Disorders for ALG13 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ALG13 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ie
  • congenital disorder of glycosylation, type iu
non-syndromic x-linked intellectual disability
  • mrx
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards
Search ALG13 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ALG13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG13
genes like me logo Genes that share disorders with ALG13: view

No data available for Genatlas for ALG13 Gene

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 67
  2. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. (PMID: 26138355) Dimassi S. … Lesca G. (Clin. Genet. 2016) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  5. The genetic landscape of infantile spasms. (PMID: 24781210) Michaud J.L. … Rossignol E. (Hum. Mol. Genet. 2014) 3

Products for ALG13 Gene

Sources for ALG13 Gene

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