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Slc25a48 solute carrier family 25, member 48 [ Mus musculus (house mouse) ]

Gene ID: 328258, updated on 11-Nov-2024

Summary

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Official Symbol
Slc25a48provided by MGI
Official Full Name
solute carrier family 25, member 48provided by MGI
Primary source
MGI:MGI:2145373
See related
Ensembl:ENSMUSG00000021509 AllianceGenome:MGI:2145373
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
E230025K15
Summary
Predicted to enable transmembrane transporter activity. Located in mitochondrion. Orthologous to human SLC25A48 (solute carrier family 25 member 48). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in ovary adult (RPKM 14.5), subcutaneous fat pad adult (RPKM 6.6) and 7 other tissues See more
Orthologs
human all
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Genomic context

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See Slc25a48 in Genome Data Viewer
Location:
13 B1; 13 30.06 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (56585774..56620180)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (56437960..56472367)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46418 Neighboring gene STARR-seq mESC enhancer starr_34644 Neighboring gene predicted gene 3045 Neighboring gene interleukin 9 Neighboring gene STARR-positive B cell enhancer mm9_chr13:56623558-56623859 Neighboring gene F-box and leucine-rich repeat protein 21 Neighboring gene leukocyte cell-derived chemotaxin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. SLC25A48 controls mitochondrial choline import and metabolism. Verkerke ARP, et al. Cell Metab, 2024 Sep 3. PMID 39111307
  2. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
  3. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
  5. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 

General gene information

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Markers

Homology

Clone Names

  • MGC130189, MGC130190

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
solute carrier family 25 member 48
Names
putative mitochondrial carrier protein FLJ44862 homolog

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_177809.4 → NP_808477.2  solute carrier family 25 member 48

    See identical proteins and their annotated locations for NP_808477.2

    Status: VALIDATED

    Source sequence(s)
    AC132901, AK054181, DV649007
    Consensus CDS
    CCDS26561.1
    UniProtKB/Swiss-Prot
    Q3KNJ4, Q8BW66
    Related
    ENSMUSP00000021971.6, ENSMUST00000021971.6
    Conserved Domains (1) summary
    pfam00153
    Location:209 → 299
    Mito_carr; Mitochondrial carrier protein

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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    56585774..56620180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030247304.2 → XP_030103164.1  solute carrier family 25 member 48 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:162 → 252
    Mito_carr; Mitochondrial carrier protein

  2. XM_006517278.4 → XP_006517341.1  solute carrier family 25 member 48 isoform X1

    See identical proteins and their annotated locations for XP_006517341.1

    UniProtKB/Swiss-Prot
    Q3KNJ4, Q8BW66
    Conserved Domains (1) summary
    pfam00153
    Location:209 → 299
    Mito_carr; Mitochondrial carrier protein

  3. XM_011244532.2 → XP_011242834.1  solute carrier family 25 member 48 isoform X1

    See identical proteins and their annotated locations for XP_011242834.1

    UniProtKB/Swiss-Prot
    Q3KNJ4, Q8BW66
    Conserved Domains (1) summary
    pfam00153
    Location:209 → 299
    Mito_carr; Mitochondrial carrier protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BW66.2 GenPept UniProtKB/Swiss-Prot:Q8BW66

Gene LinkOut

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