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

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

Summary

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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
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Genomic context

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See SLC25A19 in Genome Data Viewer
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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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

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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)

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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.

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

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