Slc25a46 solute carrier family 25, member 46 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc25a46provided by MGI
Official Full Name: solute carrier family 25, member 46provided by MGI
Primary source: MGI:MGI:1914703
See related: Ensembl:ENSMUSG00000024259 AllianceGenome:MGI:1914703
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: 1200007B05Rik
Summary: Acts upstream of or within several processes, including autophagy of mitochondrion; locomotion involved in locomotory behavior; and nervous system development. Located in mitochondrial outer membrane. Is expressed in craniocervical region bone; ear; jaw; nervous system; and respiratory system. Used to study Charcot-Marie-Tooth disease type 6. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Orthologous to human SLC25A46 (solute carrier family 25 member 46). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 11.8), frontal lobe adult (RPKM 11.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B1; 18 17.79 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (31713217..31743585, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (31580164..31610532, complement)

Chromosome 18 - NC_000084.7 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
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?

Our mutant mice provide a valid model for understanding the mechanistic basis of the complex SLC25A46-mediated pathologies, as well as for screening potential therapeutic interventions.
Title: Novel insights into SLC25A46-related pathologies in a genetic mouse model.
we showed that the Slc25a46 disruption caused a fusion/fission imbalance and an abnormal mitochondrial architecture that disturbed mitochondrial metabolism. These data extended the range of phenotypes associated with Slc25a46 dysfunction. Moreover, this Slc25a46 knock-out mouse model should be useful to further elucidate the role of SLC25A46 in mitochondrial dynamics
Title: Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.

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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 (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI325987 (e-PCR)
- UniSTS:166091

Slc25a46 (e-PCR), detects polymorphism
- UniSTS:547061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cristae formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotion involved in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial fission	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial membrane fission	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mitochondrial transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nerve development	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within optic nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory chain complex IV assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: mitochondrial outer membrane protein SLC25A46

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_001357461.1 → NP_001344390.1 mitochondrial outer membrane protein SLC25A46 isoform 2

Status: VALIDATED

Source sequence(s)

AK030346, AK161372, BB615124, BY669800

Conserved Domains (1) summary

cl28162
Location:171 → 256

Mito_carr; Mitochondrial carrier protein
NM_026165.4 → NP_080441.1 mitochondrial outer membrane protein SLC25A46 isoform 1

See identical proteins and their annotated locations for NP_080441.1

Status: VALIDATED

Source sequence(s)

AK030346, BY669800, CA319087

Consensus CDS

CCDS29110.1

UniProtKB/Swiss-Prot

Q3TUD3, Q3UGG7, Q8VDX9, Q9CQS4

Related

ENSMUSP00000053325.7, ENSMUST00000060396.7

Conserved Domains (1) summary

pfam00153
Location:317 → 402

Mito_carr; Mitochondrial carrier protein