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

Gene ID: 67453, updated on 26-Sep-2022

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
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Genomic context

See Slc25a46 in Genome Data Viewer
Location:
18; 18 B1
Exon count:
9
Annotation release Status Assembly Chr Location
109 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_000084.7Genomic Context describing neighboring genes Neighboring gene actin, beta pseudogene Neighboring gene predicted gene, 38606 Neighboring gene Sin3A associated protein Neighboring gene predicted gene, 52327 Neighboring gene protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 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
PubMed 
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
PubMed 
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 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

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)

  1. NM_001357461.1NP_001344390.1  mitochondrial outer membrane protein SLC25A46 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK030346, AK161372, BB615124, BY669800
    Conserved Domains (1) summary
    cl28162
    Location:171256
    Mito_carr; Mitochondrial carrier protein
  2. NM_026165.4NP_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
    Q8VDX9, Q9CQS4
    UniProtKB/TrEMBL
    A0A8C6IL99
    Related
    ENSMUSP00000053325.7, ENSMUST00000060396.7
    Conserved Domains (1) summary
    pfam00153
    Location:317402
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    31713217..31743585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)