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Slc25a19
Gene Detail
Symbol

Name
ID
Slc25a19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
MGI:1914533
Synonyms
2900089E13Rik, DNC, MUP1, TPC
Feature Type
protein coding gene
Genetic Map
Chromosome 11
80.91 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:115614178-115628281 bp, - strand
From VEGA annotation of GRCm38

  14104 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5982  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Slc25a19

Human
homologs
Human Homolog SLC25A19, solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
NCBI Gene ID 60386
neXtProt AC  NX_Q9HC21
Human Synonyms  DNC, MCPHA, MUP1, THMD3, THMD4, TPC
Human Chr (Location)  17q25.3; chr17:75272980-75289449 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human SLC25A19
Mutations,
alleles, and
phenotypes
All mutations/alleles(49) : Gene trapped(45) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria.
 
Human Diseases Modeled Using Mouse Slc25a19 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Interactions
Slc25a19 interacts with 127 markers (Mir17, Mir19a, Mir19b-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process transmembrane transport, transport
Component integral component of membrane, membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (6)    Tissues (5)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 6
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(17) cDNA(16) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000003476 (Evidence)
Ensembl Gene ModelENSMUSG00000020744 (Evidence)
Entrez Gene67283 (Evidence)
Consensus CDS ProjectCCDS25644.1, CCDS56819.1
International Mouse Knockout Project StatusSlc25a19
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003476 VEGA Gene Model | MGI Sequence Detail 14104 C57BL/6J ±  kb
transcript OTTMUST00000007425 VEGA | MGI Sequence Detail 2307 Not Applicable 
polypeptide OTTMUSP00000003574 VEGA | MGI Sequence Detail 318 Not Applicable 

For the selected sequences
All sequences(77) RefSeq(14) UniProt(7)
Polymorphisms
SNPs within 2kb(116 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023395 Mitochondrial carrier domain
InterPro IPR002067 Mitochondrial carrier protein
InterPro IPR018108 Mitochondrial substrate/solute carrier
Protein Ontology PR:000015014 mitochondrial thiamine pyrophosphate carrier
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(39)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory