Alg10b ALG10 alpha-1,2-glucosyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alg10bprovided by MGI
Official Full Name: ALG10 alpha-1,2-glucosyltransferaseprovided by MGI
Primary source: MGI:MGI:2146159
See related: Ensembl:ENSMUSG00000075470 AllianceGenome:MGI:2146159
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: nse5; Deaf1; Gm917
Summary: Predicted to enable dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Acts upstream of or within auditory receptor cell development and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; nose; and respiratory system. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in long QT syndrome 2. Orthologous to several human genes including ALG10B (ALG10 alpha-1,2-glucosyltransferase B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 13.4), CNS E11.5 (RPKM 12.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 45.07 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (90108506..90117674)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (90224311..90230554)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice.
Title: A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Targeted (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237379

AU045404 (e-PCR)
- UniSTS:180821

Alg10b (e-PCR), detects polymorphism
- UniSTS:546647

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

RH127209 (e-PCR)
- UniSTS:209133

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within auditory receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dolichol-linked oligosaccharide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase

Names: alpha-1,2-glucosyltransferase ALG10-A; alpha-2-glucosyltransferase ALG10-B; asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase); asparagine-linked glycosylation 10B (alpha-1,2-glucosyltransferase); asparagine-linked glycosylation protein 10 homolog B; potassium channel regulator 1; putative alpha-1,2-glucosyltransferase ALG10-B

NP_001028613.1

EC 2.4.1.256

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.