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

Summary

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 and thiol-dependent deubiquitinase. Acts upstream of or within negative regulation of TORC1 signaling; negative regulation of neuron death; 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, Apr 2022]
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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decreased cognitive function of ALG13KO female mice may be related to the decreased plasticity of hippocampal neurons.
Title: Decreased cognitive function of ALG13KO female mice may be related to the decreased plasticity of hippocampal neurons.
Expression of ALG13 in the central nervous system (CNS) had histologically and cellular specificity, mainly in the neurons in the cortex and hippocampus. KA-induced seizures significantly affected the expression levels of ALG13 mRNA and protein in the forebrain of wild-type (WT) mice. KA-induced epileptic progressions were dramatically increased in Alg13 knockout (KO) mice.
Title: ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-46b1 (e-PCR)
- UniSTS:257841

NoName (e-PCR)
- UniSTS:491470

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type deubiquitinase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type peptidase activity	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables hexosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in dolichol-linked oligosaccharide biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation 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

EC 2.4.1.141

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)

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

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