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

    Gene ID: 328258, updated on 5-Mar-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 acyl carnitine transmembrane transporter activity. Predicted to be involved in acyl carnitine transport and amino acid transport. Located in mitochondrion. Orthologous to human SLC25A48 (solute carrier family 25 member 48). [provided by Alliance of Genome Resources, Apr 2022]
    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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    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
    • 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. 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
    2. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    3. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) 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 (4) 

    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
    		  
    Process Evidence Code Pubs
    involved_in transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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