Seroatlas · Human Serome Atlas

SLC25A19

Mitochondrial thiamine pyrophosphate carrier

Also known as: DNC, MCPHA, MUP1, TPC, TPC_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9HC21
Gene
SLC25A19
Ensembl
ENSG00000125454
Chromosome
17
Canonical length
320 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

320 residues, UniProt reviewed canonical sequence.

>Q9HC21|SLC25A19
     1  MVGYDPKPDG RNNTKFQVAV AGSVSGLVTR ALISPFDVIK IRFQLQHERL SRSDPSAKYH
    61  GILQASRQIL QEEGPTAFWK GHVPAQILSI GYGAVQFLSF EMLTELVHRG SVYDAREFSV
   121  HFVCGGLAAC MATLTVHPVD VLRTRFAAQG EPKVYNTLRH AVGTMYRSEG PQVFYKGLAP
   181  TLIAIFPYAG LQFSCYSSLK HLYKWAIPAE GKKNENLQNL LCGSGAGVIS KTLTYPLDLF
   241  KKRLQVGGFE HARAAFGQVR RYKGLMDCAK QVLQKEGALG FFKGLSPSLL KAALSTGFMF
   301  FSYEFFCNVF HCMNRTASQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A19 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 33 nTPM
  • testis: 32 nTPM
  • lymph node: 21 nTPM
  • tonsil: 18 nTPM
  • tongue: 16 nTPM
  • appendix: 15 nTPM

Single-cell type

  • late primary spermatocytes: 171 nCPM
  • extravillous trophoblasts: 116 nCPM
  • cdc: 88 nCPM
  • monocytes: 49 nCPM
  • hofbauer cells: 43 nCPM
  • late spermatids: 38 nCPM

Immune cell

  • memory B-cell: 37 nTPM
  • plasmacytoid DC: 31 nTPM
  • naive B-cell: 30 nTPM
  • intermediate monocyte: 25 nTPM
  • myeloid DC: 25 nTPM
  • classical monocyte: 21 nTPM

Brain region

  • medulla oblongata: 18 nTPM
  • thalamus: 17 nTPM
  • white matter: 17 nTPM
  • cerebral cortex: 15 nTPM
  • pons: 14 nTPM
  • spinal cord: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A19.

Disease | AllUniProt

Conditions SLC25A19 is implicated in, by any mechanism.

  • Microcephaly, Amish type (MCPHA) MIM:607196
  • Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) MIM:613710

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 205 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Progressive demyelinating neuropathy with bilateral striatal necrosis
  • Amish lethal microcephaly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.52
gnomAD pLI
0.65
gnomAD missense Z
0.59
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A19 as an antibody target. Whether an autoantibody or antibody against SLC25A19 could matter depends on whether native SLC25A19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A19 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC25A19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC25A19. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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