U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    SLC25A19 solute carrier family 25 member 19 [ Homo sapiens (human) ]

    Gene ID: 60386, updated on 11-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SLC25A19provided by HGNC
    Official Full Name
    solute carrier family 25 member 19provided by HGNC
    Primary source
    HGNC:HGNC:14409
    See related
    Ensembl:ENSG00000125454 MIM:606521; AllianceGenome:HGNC:14409
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNC; TPC; MUP1; MCPHA; MTPPT; THMD3; THMD4
    Summary
    This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    17q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75272992..75289433, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76165078..76181525, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73269073..73285514, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12740 Neighboring gene Sharpr-MPRA regulatory region 8279 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12741 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73257869-73258746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73268227-73269014 Neighboring gene mitochondrial ribosomal protein S7 Neighboring gene MIF4GD divergent transcript Neighboring gene MIF4G domain containing Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:73284659-73285160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8963 Neighboring gene uncharacterized LOC124904059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73297250-73297750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12753 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:73315884-73317083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73322960-73323460 Neighboring gene growth factor receptor bound protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12757 Neighboring gene ribosomal protein L36a pseudogene 7

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature. Samur BM, et al. Clin Dysmorphol, 2022 Jul 1. PMID 35102031, Free PMC Article
    2. Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4. Chen Y, et al. Orphanet J Rare Dis, 2021 Sep 29. PMID 34587972, Free PMC Article
    3. Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4. Bottega R, et al. J Hum Genet, 2019 Nov. PMID 31506564, Free PMC Article
    4. Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s). Sabui S, et al. Am J Physiol Gastrointest Liver Physiol, 2017 Nov 1. PMID 28729247, Free PMC Article
    5. Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291). Sabui S, et al. Biochim Biophys Acta, 2016 Aug. PMID 27188525, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (SLC25A19) in pancreatic acinar cells.
      Title: miR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (SLC25A19) in pancreatic acinar cells.
    2. Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.
      Title: Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.
    3. Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
      Title: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
    4. Pancreatic acinar cells Mitochondrial Thiamin Pyrophosphate uptake process is adaptively regulated by the prevailing thiamin level and this regulation is exerted at the level of transcription of the SLC25A19 gene and involves transcription factor binding affinity/epigenetic mechanisms.
      Title: Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).
    5. Among 6 residues predicted by the docking model ( Thr(29), Arg(30), Ile(33), Ser(34), Asp(37) and Phe(298)), only Ile(33), Ser(34) and Asp(37) were critical for function. Ser(34) did not affect translation/stability. Ile(33) and Asp(37) mutants decreased this parameter andwere expressed less in mitochondria. A polar residue was needed at position 34. His(137) and Lys(291) are needed for delivery to mitochondria.
      Title: Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).
    6. 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.
    7. These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.
      Title: Up-regulation of vitamin B1 homeostasis genes in breast cancer.
    8. Characterization of the SLC25A19 promoter and demonstration of an essential role for NF-Y in its basal activity.
      Title: Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.
    9. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables deoxynucleotide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deoxynucleotide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables thiamine pyrophosphate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thiamine pyrophosphate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables thiamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    NOT involved_in deoxynucleotide transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in deoxynucleotide transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in thiamine diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine pyrophosphate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thiamine pyrophosphate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thiamine-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    mitochondrial thiamine pyrophosphate carrier
    Names
    Deoxynucleotide carrier
    mitochondrial thiamine pyrophosphate transporter
    mitochondrial uncoupling protein 1
    solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008274.1 RefSeqGene

      Range
      5017..21458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126121.2 → NP_001119593.1  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_001119593.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BM455504, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Related
      ENSP00000397818.2, ENST00000416858.7
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    2. NM_001126122.2 → NP_001119594.1  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_001119594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BM455504, BU177306, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Related
      ENSP00000402202.2, ENST00000442286.6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    3. NM_021734.5 → NP_068380.3  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_068380.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BC005120, BM455504, DA605220, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Related
      ENSP00000463795.1, ENST00000580994.5
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75272992..75289433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436514.1 → XP_047292470.1  mitochondrial thiamine pyrophosphate carrier isoform X2

      Related
      ENSP00000462214.1, ENST00000583332.5

    2. XM_047436512.1 → XP_047292468.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    3. XM_017024928.3 → XP_016880417.1  mitochondrial thiamine pyrophosphate carrier isoform X2

      UniProtKB/TrEMBL
      J3KRY6
      Conserved Domains (1) summary
      pfam00153
      Location:118 → 201
      Mito_carr; Mitochondrial carrier protein

    4. XM_005257561.5 → XP_005257618.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257618.1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    5. XM_005257559.5 → XP_005257616.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257616.1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    6. XM_047436513.1 → XP_047292469.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    7. XM_005257562.3 → XP_005257619.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257619.1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    8. XM_005257560.3 → XP_005257617.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257617.1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    9. XM_006722007.3 → XP_006722070.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_006722070.1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1, Q8NBT6
      Conserved Domains (2) summary
      PTZ00169
      Location:20 → 293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 203
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76165078..76181525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316862.1 → XP_054172837.1  mitochondrial thiamine pyrophosphate carrier isoform X2

    2. XM_054316859.1 → XP_054172834.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    3. XM_054316863.1 → XP_054172838.1  mitochondrial thiamine pyrophosphate carrier isoform X2

    4. XM_054316857.1 → XP_054172832.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    5. XM_054316856.1 → XP_054172831.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    6. XM_054316860.1 → XP_054172835.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    7. XM_054316855.1 → XP_054172830.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    8. XM_054316858.1 → XP_054172833.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1

    9. XM_054316861.1 → XP_054172836.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      E9PF74, Q6V9R7, Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HC21.1 GenPept UniProtKB/Swiss-Prot:Q9HC21

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous