Human Gene SLC25A19 (ENST00000416858.7_7) from GENCODE V47lift37
  Description: solute carrier family 25 member 19, transcript variant 1 (from RefSeq NM_001126121.2)
Gencode Transcript: ENST00000416858.7_7
Gencode Gene: ENSG00000125454.12_15
Transcript (Including UTRs)
   Position: hg19 chr17:73,269,073-73,285,514 Size: 16,442 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:73,269,532-73,282,845 Size: 13,314 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:73,269,073-73,285,514)mRNA (may differ from genome)Protein (320 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPC_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial thiamine pyrophosphate carrier; AltName: Full=Mitochondrial uncoupling protein 1; AltName: Full=Solute carrier family 25 member 19;
FUNCTION: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
DISEASE: Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA) [MIM:607196]; also known as Amish lethal microcephaly. MCPHA is an autosomal recessive metabolic disorder characterized by severe congenital microcephaly, severe 2- ketoglutaric aciduria and death within the first year.
DISEASE: Defects in SLC25A19 are the cause of striatal necrosis bilateral and progressive polyneuropathy (SNBPP) [MIM:613710]. A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
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).
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 3 Solcar repeats.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A19";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC25A19
Diseases sorted by gene-association score: microcephaly, amish type* (1690), thiamine metabolism dysfunction syndrome 4* (1680), nasal cavity cancer (15), microcephaly (14), nasal cavity squamous cell carcinoma (9), polyneuropathy (7), detrusor sphincter dyssynergia (7), thiamine metabolism dysfunction syndrome 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.64 RPKM in Testis
Total median expression: 170.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -61.20208-0.294 Picture PostScript Text
3' UTR -184.40459-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

SCOP Domains:
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on Q9HC21
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015234 thiamine transmembrane transporter activity
GO:0030233 deoxynucleotide transmembrane transporter activity
GO:0090422 thiamine pyrophosphate transporter activity

Biological Process:
GO:0006839 mitochondrial transport
GO:0030302 deoxynucleotide transport
GO:0030974 thiamine pyrophosphate transport
GO:0042723 thiamine-containing compound metabolic process
GO:0055085 transmembrane transport
GO:0071934 thiamine transmembrane transport

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  AK225881 - Homo sapiens mRNA for Mitochondrial deoxynucleotide carrier variant, clone: FCC123E02.
BC001075 - Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, mRNA (cDNA clone MGC:2707 IMAGE:2821142), complete cds.
BC005120 - Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, mRNA (cDNA clone MGC:4334 IMAGE:2821142), complete cds.
AL833387 - Homo sapiens mRNA; cDNA DKFZp667O1614 (from clone DKFZp667O1614).
AK097882 - Homo sapiens cDNA FLJ40563 fis, clone THYMU2004169, highly similar to Mitochondrial deoxynucleotide carrier.
AK075239 - Homo sapiens cDNA FLJ90758 fis, clone SKNMC1000082, highly similar to Mitochondrial deoxynucleotide carrier.
AJ251857 - Homo sapiens mRNA for thiamine pyrophosphate carrier (TPC gene).
JD150614 - Sequence 131638 from Patent EP1572962.
JD449988 - Sequence 431012 from Patent EP1572962.
JD131076 - Sequence 112100 from Patent EP1572962.
JD051678 - Sequence 32702 from Patent EP1572962.
JD446668 - Sequence 427692 from Patent EP1572962.
JD420890 - Sequence 401914 from Patent EP1572962.
JD073851 - Sequence 54875 from Patent EP1572962.
JD437292 - Sequence 418316 from Patent EP1572962.
AF182404 - Homo sapiens mitochondrial uncoupling protein 1 mRNA, complete cds.
AY346372 - Homo sapiens solute carrier family 25 member 19 (SLC25A19) mRNA, complete cds; alternatively spliced.
DQ892760 - Synthetic construct clone IMAGE:100005390; FLH189434.01X; RZPDo839F0274D solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 (SLC25A19) gene, encodes complete protein.
DQ896005 - Synthetic construct Homo sapiens clone IMAGE:100010465; FLH189430.01L; RZPDo839F0264D solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 (SLC25A19) gene, encodes complete protein.
JD233225 - Sequence 214249 from Patent EP1572962.
JD053272 - Sequence 34296 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HC21 (Reactome details) participates in the following event(s):

R-HSA-8875838 SLC25A19 transports ThDP from cytosol to mitochondrial matrix
R-HSA-196819 Vitamin B1 (thiamin) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: DNC , E9PF74, ENST00000416858.1, ENST00000416858.2, ENST00000416858.3, ENST00000416858.4, ENST00000416858.5, ENST00000416858.6, MUP1 , NM_001126121, Q6V9R7, Q9HC21, SLC25A19 , TPC_HUMAN, uc319mop.1, uc319mop.2
UCSC ID: ENST00000416858.7_7
RefSeq Accession: NM_001126121.2
Protein: Q9HC21 (aka TPC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC25A19:
amish-mcph (SLC25A19-Related Thiamine Metabolism Dysfunction)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.