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Aliases for SLC25A19 Gene

Aliases for SLC25A19 Gene

  • Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate Carrier), Member 19 2 3
  • MUP1 3 4 6
  • DNC 3 4 6
  • Solute Carrier Family 25 (Mitochondrial Deoxynucleotide Carrier), Member 19 2 3
  • Mitochondrial Uncoupling Protein 1 3 4
  • Microcephaly, Amish 2 3
  • THMD3 3 6
  • THMD4 3 6
  • MCPHA 3 6
  • Mitochondrial Thiamine Pyrophosphate Carrier 3
  • Solute Carrier Family 25 Member 19 4
  • TPC 3

External Ids for SLC25A19 Gene

Previous HGNC Symbols for SLC25A19 Gene

  • MCPHA

Previous GeneCards Identifiers for SLC25A19 Gene

  • GC17M073266
  • GC17M076328
  • GC17M073733
  • GC17M073866
  • GC17M070780
  • GC17M068679

Summaries for SLC25A19 Gene

Entrez Gene Summary for SLC25A19 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]

GeneCards Summary for SLC25A19 Gene

SLC25A19 (Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate Carrier), Member 19) is a Protein Coding gene. Diseases associated with SLC25A19 include microcephaly, amish type and thiamine metabolism dysfunction syndrome 4. GO annotations related to this gene include deoxynucleotide transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC25A19 Gene

  • Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Gene Wiki entry for SLC25A19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A19 Gene

Genomics for SLC25A19 Gene

Regulatory Elements for SLC25A19 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC25A19 Gene

Start:
75,272,980 bp from pter
End:
75,289,510 bp from pter
Size:
16,531 bases
Orientation:
Minus strand

Genomic View for SLC25A19 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC25A19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A19 Gene

Proteins for SLC25A19 Gene

  • Protein details for SLC25A19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC21-TPC_HUMAN
    Recommended name:
    Mitochondrial thiamine pyrophosphate carrier
    Protein Accession:
    Q9HC21
    Secondary Accessions:
    • E9PF74
    • Q6V9R7

    Protein attributes for SLC25A19 Gene

    Size:
    320 amino acids
    Molecular mass:
    35511 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity).

    Alternative splice isoforms for SLC25A19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A19 Gene

Proteomics data for SLC25A19 Gene at MOPED

Post-translational modifications for SLC25A19 Gene

  • Ubiquitination at Lys153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A19 Gene

Domains for SLC25A19 Gene

Gene Families for SLC25A19 Gene

Protein Domains for SLC25A19 Gene

Suggested Antigen Peptide Sequences for SLC25A19 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC21

UniProtKB/Swiss-Prot:

TPC_HUMAN :
  • Q9HC21
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A19: view

Function for SLC25A19 Gene

Molecular function for SLC25A19 Gene

UniProtKB/Swiss-Prot Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Gene Ontology (GO) - Molecular Function for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030233 deoxynucleotide transmembrane transporter activity TAS 11226231
genes like me logo Genes that share ontologies with SLC25A19: view
genes like me logo Genes that share phenotypes with SLC25A19: view

Animal Models for SLC25A19 Gene

MGI Knock Outs for SLC25A19:

Animal Model Products

CRISPR Products

miRNA for SLC25A19 Gene

miRTarBase miRNAs that target SLC25A19

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A19

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC25A19 Gene

Localization for SLC25A19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A19 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A19 Gene COMPARTMENTS Subcellular localization image for SLC25A19 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A19: view

Pathways for SLC25A19 Gene

SuperPathways for SLC25A19 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for SLC25A19 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000319574%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000016171%0d%0a9606.ENSP00000233146%0d%0a
Selected Interacting proteins: ENSP00000319574 Q9HC21-TPC_HUMAN for SLC25A19 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006810 transport --
GO:0030302 deoxynucleotide transport NAS 11226231
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A19: view

No data available for Pathways by source for SLC25A19 Gene

Compounds for SLC25A19 Gene

(5) Novoseek inferred chemical compound relationships for SLC25A19 Gene

Compound -log(P) Hits PubMed IDs
nucleoside 48 2
fatty acid 29 2
thymidine 15.8 1
lipid 7.75 1
glucose 5.93 1
genes like me logo Genes that share compounds with SLC25A19: view

Transcripts for SLC25A19 Gene

Unigene Clusters for SLC25A19 Gene

Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A19

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A19 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e
SP1: - -
SP2: -
SP3: - - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - -
SP7: - -
SP8: - - - - -
SP9: -
SP10: - - -
SP11: - - -
SP12: - - -

Relevant External Links for SLC25A19 Gene

GeneLoc Exon Structure for
SLC25A19
ECgene alternative splicing isoforms for
SLC25A19

Expression for SLC25A19 Gene

mRNA expression in normal human tissues for SLC25A19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC25A19 Gene

SOURCE GeneReport for Unigene cluster for SLC25A19 Gene Hs.514470

mRNA Expression by UniProt/SwissProt for SLC25A19 Gene

Q9HC21-TPC_HUMAN
Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
genes like me logo Genes that share expressions with SLC25A19: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SLC25A19 Gene

Orthologs for SLC25A19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A19 35
  • 98.85 (n)
  • 99.06 (a)
SLC25A19 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A19 35
  • 84.38 (n)
  • 81.76 (a)
SLC25A19 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A19 35
  • 83.23 (n)
  • 81.76 (a)
SLC25A19 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a19 35
  • 80.63 (n)
  • 76.19 (a)
Slc25a19 16
Slc25a19 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A19 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A19 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a19 35
  • 81.16 (n)
  • 76.51 (a)
chicken
(Gallus gallus)
Aves SLC25A19 35
  • 67.82 (n)
  • 66.35 (a)
SLC25A19 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A19 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a19 35
  • 65.26 (n)
  • 67.31 (a)
Str.3933 35
zebrafish
(Danio rerio)
Actinopterygii slc25a19 35
  • 61.2 (n)
  • 62.62 (a)
slc25a19 36
  • 61 (a)
OneToOne
wufj01c08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006806 35
  • 47.93 (n)
  • 39.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tpc1 35
  • 47.64 (n)
  • 40.2 (a)
Tpc1 36
  • 34 (a)
OneToMany
Tpc2 36
  • 33 (a)
OneToMany
CG2857 37
  • 34 (a)
CG6608 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea hpo-12 35
  • 49.11 (n)
  • 43.33 (a)
C42C1.10 37
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR036W 35
  • 48.04 (n)
  • 36.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 25 (a)
OneToOne
TPC1 35
  • 42.64 (n)
  • 30 (a)
TPC1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15015g 35
  • 43.12 (n)
  • 31.82 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G48970 35
  • 49.26 (n)
  • 43.69 (a)
rice
(Oryza sativa)
Liliopsida Os01g0934200 35
  • 50.29 (n)
  • 43.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07384 35
  • 49.37 (n)
  • 39.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1604.04 35
  • 46.59 (n)
  • 35.34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for SLC25A19:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A19 Gene

ENSEMBL:
Gene Tree for SLC25A19 (if available)
TreeFam:
Gene Tree for SLC25A19 (if available)

Paralogs for SLC25A19 Gene

genes like me logo Genes that share paralogs with SLC25A19: view

No data available for Paralogs for SLC25A19 Gene

Variants for SLC25A19 Gene

Sequence variations from dbSNP and Humsavar for SLC25A19 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs899320 -- 75,284,634(+) Ctttc(A/T)ttttt intron-variant
rs899321 -- 75,284,711(+) aaaca(C/T)ggctc intron-variant
rs899322 -- 75,284,889(+) ctgcc(C/T)gcctt intron-variant
rs2291033 -- 75,289,380(+) GGCTC(A/C)GCGCT utr-variant-5-prime, upstream-variant-2KB
rs2306217 -- 75,278,100(+) GGGGG(C/T)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A19 Gene

Variant ID Type Subtype PubMed ID
nsv908758 CNV Loss 21882294
nsv908760 CNV Loss 21882294
nsv510727 CNV Loss 20534489
nsv908761 CNV Loss 21882294
esv2716237 CNV Deletion 23290073
esv2671377 CNV Deletion 23128226

Relevant External Links for SLC25A19 Gene

HapMap Linkage Disequilibrium report
SLC25A19
Human Gene Mutation Database (HGMD)
SLC25A19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A19 Gene

Disorders for SLC25A19 Gene

(2) OMIM Diseases for SLC25A19 Gene (606521)

UniProtKB/Swiss-Prot

TPC_HUMAN
  • Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. {ECO:0000269 PubMed:12185364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO:0000269 PubMed:19798730}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC25A19

GeneTests
SLC25A19
GeneReviews
SLC25A19
Genetic Association Database (GAD)
SLC25A19
Human Genome Epidemiology (HuGE) Navigator
SLC25A19
genes like me logo Genes that share disorders with SLC25A19: view

Publications for SLC25A19 Gene

  1. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. (PMID: 11226231) Dolce V. … Walker J.E. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 23
  2. Mutant deoxynucleotide carrier is associated with congenital microcephaly. (PMID: 12185364) Rosenberg M.J. … Biesecker L.G. (Nat. Genet. 2002) 3 4 23
  3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. (PMID: 18280798) Kang J. … Samuels D.C. (Mitochondrion 2008) 3 4 23
  4. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). (PMID: 11474176) Iacobazzi V. … Palmieri F. (Cytogenet. Cell Genet. 2001) 2 3 23
  5. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. (PMID: 19798730) Spiegel R. … Elpeleg O. (Ann. Neurol. 2009) 2 3 4

Products for SLC25A19 Gene

Sources for SLC25A19 Gene

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