Gan giant axonal neuropathy [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ganprovided by MGI
Official Full Name: giant axonal neuropathyprovided by MGI
Primary source: MGI:MGI:1890619
See related: Ensembl:ENSMUSG00000052557 AllianceGenome:MGI:1890619
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: gigaxonin; A330045G18
Summary: Predicted to be involved in protein ubiquitination. Predicted to act upstream of or within cytoskeleton organization. Predicted to be located in cytoplasm. Predicted to be part of Cul3-RING ubiquitin ligase complex. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and respiratory system. Used to study giant axonal neuropathy 1. Human ortholog(s) of this gene implicated in giant axonal neuropathy 1. Orthologous to human GAN (gigaxonin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 4.0), adrenal adult (RPKM 3.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 63.71 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (117884720..117932573)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (117157981..117205834)

Chromosome 8 - NC_000074.7 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?

We demonstrate that gigaxonin is crucial for ubiquitin-proteasomal degradation of neuronal Intermediate filaments. Moreover,Intermediate filaments accumulation impairs mitochondrial motility and is associated with metabolic and oxidative stress
Title: Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.
gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments
Title: Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
GAN variants are identified in brain sections of mutant mice with giant axonal neuropathy.
Title: Gigaxonin mutation analysis in patients with NIFID.
At 6 months of age the Gigaxonin-knockout(Deltaexon1;Deltaexon1) mice exhibit a modest hind limb muscle atrophy, a 10% decrease of muscle innervation and a 27% axonal loss in the L5 ventral roots.
Title: Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.
results identify gigaxonin as a ubiquitin scaffolding protein that controls MAP1B-LC degradation, and provide insight into the molecular mechanisms underlying human neurodegenerative disorders
Title: Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.
Disruption of gigaxonin results in an impaired ubiquitin-proteasome system leading to a substantial accumulation of toxic microtubule-associated protein MAP8 in the null mutants.
Title: Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gan (e-PCR), detects polymorphism
- UniSTS:506922

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within cytoskeleton organization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gigaxonin

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.