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

Gene ID: 67283, updated on 21-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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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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