Myorg myogenesis regulating glycosidase (putative) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myorgprovided by MGI
Official Full Name: myogenesis regulating glycosidase (putative)provided by MGI
Primary source: MGI:MGI:2140300
See related: Ensembl:ENSMUSG00000046312 AllianceGenome:MGI:2140300
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: Gm762; NET37; Kiaa1161
Summary: Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Acts upstream of or within positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of protein kinase B signaling; and skeletal muscle fiber development. Located in endoplasmic reticulum membrane and nuclear membrane. Is expressed in several structures, including alimentary system; brain; connective tissue; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in basal ganglia calcification. Orthologous to human MYORG (myogenesis regulating glycosidase (putative)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in mammary gland adult (RPKM 7.2), liver adult (RPKM 7.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 21.69 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (41495601..41503132, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (41491847..41503135, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

In mice, Myorg mRNA was expressed specifically in S100beta-positive astrocytes, and knockout of Myorg induced the formation of brain calcification at 9 months of age.
Title: Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (2)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI464131 (e-PCR)
- UniSTS:178982

AI604836 (e-PCR)
- UniSTS:178988

NoName (e-PCR)
- UniSTS:234900

RH124675 (e-PCR)
- UniSTS:161497

RH125773 (e-PCR)
- UniSTS:162521

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic 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 positive regulation of insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myogenesis-regulating glycosidase

Names: full=Nuclear envelope transmembrane protein 37; nuclear envelope transmembrane protein 37

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_001085515.2 → NP_001078984.1 myogenesis-regulating glycosidase

See identical proteins and their annotated locations for NP_001078984.1

Status: VALIDATED

Source sequence(s)

AL831723, BY246173, BY283520, CO044386

Consensus CDS

CCDS38716.1

UniProtKB/Swiss-Prot

A2ANN6, B2RU42, Q69ZQ1

Related

ENSMUSP00000059038.5, ENSMUST00000054920.5

Conserved Domains (1) summary

cd06592
Location:313 → 684

GH31_NET37; glucosidase NET37

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

41495601..41503132 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164190.1 → XP_036020083.1 myogenesis-regulating glycosidase isoform X1

UniProtKB/Swiss-Prot

A2ANN6, B2RU42, Q69ZQ1

Conserved Domains (1) summary

cd06592
Location:313 → 684

GH31_NET37; glucosidase NET37
XM_036164189.1 → XP_036020082.1 myogenesis-regulating glycosidase isoform X1

UniProtKB/Swiss-Prot

A2ANN6, B2RU42, Q69ZQ1

Conserved Domains (1) summary

cd06592
Location:313 → 684

GH31_NET37; glucosidase NET37