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    Slc25a19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [ Mus musculus (house mouse) ]

    Gene ID: 67283, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Slc25a19provided by MGI
    Official Full Name
    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19provided by MGI
    Primary source
    MGI:MGI:1914533
    See related
    Ensembl:ENSMUSG00000020744 AllianceGenome:MGI:1914533
    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
    DNC; TPC; MUP1; 2900089E13Rik
    Summary
    Predicted to enable thiamine transmembrane transporter activity. Predicted to be involved in thiamine pyrophosphate transmembrane transport. Located in mitochondrion. Is expressed in central nervous system; embryo; retina inner nuclear layer; retina layer; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in inherited metabolic disorder and microcephaly. Orthologous to human SLC25A19 (solute carrier family 25 member 19). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 38.7), mammary gland adult (RPKM 32.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc25a19 in Genome Data Viewer
    Location:
    11 E2; 11 80.91 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (115504991..115519122, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (115614165..115628296, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene STARR-seq mESC enhancer starr_31165 Neighboring gene predicted gene, 25364 Neighboring gene STARR-positive B cell enhancer ABC_E7096 Neighboring gene mitchondrial ribosomal protein S7 Neighboring gene MIF4G domain containing Neighboring gene STARR-seq mESC enhancer starr_31166 Neighboring gene STARR-positive B cell enhancer mm9_chr11:115494169-115494470 Neighboring gene STARR-positive B cell enhancer ABC_E8470 Neighboring gene STARR-positive B cell enhancer ABC_E2375 Neighboring gene growth factor receptor bound protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E10730 Neighboring gene STARR-positive B cell enhancer ABC_E7098 Neighboring gene STARR-positive B cell enhancer ABC_E9146 Neighboring gene STARR-positive B cell enhancer ABC_E10731 Neighboring gene STARR-positive B cell enhancer ABC_E3038 Neighboring gene predicted gene, 42096 Neighboring gene predicted gene 11703

    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. Transgenic expression of the deoxynucleotide carrier causes mitochondrial damage that is enhanced by NRTIs for AIDS. Lewis W, et al. Lab Invest, 2005 Aug. PMID 15951836
    2. Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells. Srinivasan P, et al. Am J Physiol Gastrointest Liver Physiol, 2015 Nov 1. PMID 26316591, Free PMC Article
    3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. Kang J, et al. Mitochondrion, 2008 Mar. PMID 18280798
    4. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Lindhurst MJ, et al. Proc Natl Acad Sci U S A, 2006 Oct 24. PMID 17035501, Free PMC Article
    5. The compartmentation of phosphorylated thiamine derivatives in cultured neuroblastoma cells. Bettendorff L. Biochim Biophys Acta, 1994 May 26. PMID 8186267

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chronic alcohol exposure negatively impacts pancreatic mitochondrial thiamin pyrophosphate transport, and this effect is exerted, at least in part, at the level of Slc25a19 transcription and appears to involve an epigenetic mechanism.
      Title: Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.
    2. We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate.[review]
      Title: The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.
    3. mitochondria of Slc25a19(-/-) and Amish lethal microcephaly cells have undetectable and markedly reduced thiamine pyrophosphate content, respectively
      Title: Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables thiamine pyrophosphate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thiamine pyrophosphate transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables thiamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in thiamine diphosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thiamine diphosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in thiamine pyrophosphate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thiamine pyrophosphate transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial thiamine pyrophosphate carrier
    Names
    solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
    solute carrier family 25 member 19

    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_001252384.1 → NP_001239313.1  mitochondrial thiamine pyrophosphate carrier isoform 1

      See identical proteins and their annotated locations for NP_001239313.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      AK005710, AV155885, BY276424, CA322885, CF584740, CX241396
      Consensus CDS
      CCDS25644.1
      UniProtKB/Swiss-Prot
      A2A9V6, Q3T9C4, Q9DAM5
      UniProtKB/TrEMBL
      Q80XJ6
      Related
      ENSMUSP00000137534.2, ENSMUST00000178003.8
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    2. NM_001252394.1 → NP_001239323.1  mitochondrial thiamine pyrophosphate carrier isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region and another exon in the 3' region, compared to variant 1. The absence of the exon in the 3' region results in a frameshift. The resulting isoform (2) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AV155885, BC046767, BY276424, CA322885, CF584740
      Consensus CDS
      CCDS56819.1
      UniProtKB/TrEMBL
      A2A9V5
      Related
      ENSMUSP00000102112.4, ENSMUST00000106503.10
      Conserved Domains (1) summary
      pfam00153
      Location:16 → 108
      Mito_carr; Mitochondrial carrier protein

    3. NM_001252395.1 → NP_001239324.1  mitochondrial thiamine pyrophosphate carrier isoform 3

      See identical proteins and their annotated locations for NP_001239324.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an additional exon in the 5' coding region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK005710, AV155885, BI736130, BY276424, CA322885, CF584740
      UniProtKB/TrEMBL
      A2A9V7
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 111
      Mito_carr; Mitochondrial carrier protein

    4. NM_001252396.1 → NP_001239325.1  mitochondrial thiamine pyrophosphate carrier isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' coding region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AV155885, BC046767, BY276424, CA322885, CF584740, CF730205
      UniProtKB/TrEMBL
      Q80XJ6
      Conserved Domains (1) summary
      pfam00153
      Location:48 → 147
      Mito_carr; Mitochondrial carrier protein

    5. NM_026071.3 → NP_080347.1  mitochondrial thiamine pyrophosphate carrier isoform 1

      See identical proteins and their annotated locations for NP_080347.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a predominant transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK005710, AV155885, BY276424, CA322885, CF584740
      Consensus CDS
      CCDS25644.1
      UniProtKB/Swiss-Prot
      A2A9V6, Q3T9C4, Q9DAM5
      UniProtKB/TrEMBL
      Q80XJ6
      Related
      ENSMUSP00000021089.5, ENSMUST00000021089.11
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 203
      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_000077.7 Reference GRCm39 C57BL/6J

      Range
      115504991..115519122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249183.3 → XP_011247485.1  mitochondrial thiamine pyrophosphate carrier isoform X3

      See identical proteins and their annotated locations for XP_011247485.1

      UniProtKB/TrEMBL
      A2A9V7
      Related
      ENSMUSP00000114566.2, ENSMUST00000135552.2
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 111
      Mito_carr; Mitochondrial carrier protein

    2. XM_036156904.1 → XP_036012797.1  mitochondrial thiamine pyrophosphate carrier isoform X4

      Conserved Domains (1) summary
      pfam00153
      Location:48 → 147
      Mito_carr; Mitochondrial carrier protein

    3. XM_036156903.1 → XP_036012796.1  mitochondrial thiamine pyrophosphate carrier isoform X3

      UniProtKB/TrEMBL
      A2A9V7
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 111
      Mito_carr; Mitochondrial carrier protein

    4. XM_036156902.1 → XP_036012795.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      A2A9V6, Q3T9C4, Q9DAM5
      UniProtKB/TrEMBL
      Q80XJ6
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    5. XM_030246244.1 → XP_030102104.1  mitochondrial thiamine pyrophosphate carrier isoform X2

      UniProtKB/TrEMBL
      A2A9V5
      Conserved Domains (1) summary
      pfam00153
      Location:16 → 108
      Mito_carr; Mitochondrial carrier protein

    6. XM_030246245.1 → XP_030102105.1  mitochondrial thiamine pyrophosphate carrier isoform X3

      UniProtKB/TrEMBL
      A2A9V7
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 111
      Mito_carr; Mitochondrial carrier protein

    7. XM_006533979.4 → XP_006534042.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_006534042.1

      UniProtKB/Swiss-Prot
      A2A9V6, Q3T9C4, Q9DAM5
      UniProtKB/TrEMBL
      Q80XJ6
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    8. XM_017314714.2 → XP_017170203.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      A2A9V6, Q3T9C4, Q9DAM5
      UniProtKB/TrEMBL
      Q80XJ6
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DAM5.1 GenPept UniProtKB/Swiss-Prot:Q9DAM5

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