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    Alg13 asparagine-linked glycosylation 13 [ Mus musculus (house mouse) ]

    Gene ID: 67574, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Alg13provided by MGI
    Official Full Name
    asparagine-linked glycosylation 13provided by MGI
    Primary source
    MGI:MGI:1914824
    See related
    Ensembl:ENSMUSG00000041718 AllianceGenome:MGI:1914824
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MDS031; Glt28d1; 2810046O15Rik; 4833435D08Rik
    Summary
    Predicted to enable N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. Acts upstream of or within negative regulation of TORC1 signaling and regulation of synaptic plasticity. Located in cytoplasm. Is expressed in several structures, including forelimb bud; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 36. Orthologous to human ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 4.3), limb E14.5 (RPKM 4.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Alg13 in Genome Data Viewer
    Location:
    X F2; X 65.42 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (143100962..143157446)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (144317966..144374450)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_48037 Neighboring gene eukaryotic translation elongation factor pseudogene Neighboring gene microRNA 680-2 Neighboring gene STARR-seq mESC enhancer starr_48041 Neighboring gene STARR-seq mESC enhancer starr_48042 Neighboring gene predicted gene, 33235 Neighboring gene 60S ribosomal protein L35a pseudogene Neighboring gene STARR-seq mESC enhancer starr_48044 Neighboring gene transient receptor potential cation channel, subfamily C, member 5 Neighboring gene transient receptor potential cation channel, subfamily C, member 5, opposite strand Neighboring gene BRCA1 associated RING domain 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Decreased cognitive function of ALG13KO female mice may be related to the decreased plasticity of hippocampal neurons. Guo B, et al. Neuropeptides, 2022 Dec. PMID 36152356
    2. ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity. Gao P, et al. Neuroscience, 2019 Jun 15. PMID 30872163
    3. Phenotypic annotation of the mouse X chromosome. Cox BJ, et al. Genome Res, 2010 Aug. PMID 20548051, Free PMC Article
    4. Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Lewandowski JP, et al. Dev Biol, 2015 Oct 1. PMID 26238476, Free PMC Article
    5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (3) 
    • Targeted (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dolichol-linked oligosaccharide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_positive_effect protein N-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_positive_effect protein N-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of UDP-N-acetylglucosamine transferase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of UDP-N-acetylglucosamine transferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic side of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasmic side of endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylglucosamine transferase subunit ALG13
    Names
    UDP-N-acetylglucosamine transferase subunit ALG13 homolog
    asparagine-linked glycosylation 13 homolog
    glycosyltransferase 28 domain containing 1
    glycosyltransferase 28 domain-containing protein 1
    putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
    NP_080523.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_026247.3 → NP_080523.2  UDP-N-acetylglucosamine transferase subunit ALG13

      See identical proteins and their annotated locations for NP_080523.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the protein-coding variant.
      Source sequence(s)
      AK086546, BC137692
      Consensus CDS
      CCDS30456.1
      UniProtKB/TrEMBL
      Q0VD95, Q8C132
      Related
      ENSMUSP00000068403.5, ENSMUST00000070801.11
      Conserved Domains (1) summary
      cl10013
      Location:5 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    RNA

    1. NR_037145.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript. Orthologous transcripts in other organisms encode proteins >1000 aa. However, an in-frame premature stop codon prevents this transcript from being protein-coding in mouse.
      Source sequence(s)
      BC053004, BC059024, BC137692
      Related
      ENSMUST00000154827.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      143100962..143157446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D8C3.2 GenPept UniProtKB/Swiss-Prot:Q9D8C3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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