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 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

Alleles and phenotypes

All 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)

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)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	6

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(17) cDNA(16) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000003476 (Evidence)
Ensembl Gene Model	ENSMUSG00000020744 (Evidence)
Entrez Gene	67283 (Evidence)
Consensus CDS Project	CCDS25644.1, CCDS56819.1
International Mouse Knockout Project Status	Slc25a19

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003476	VEGA Gene Model | MGI Sequence Detail	14104	C57BL/6J
transcript	OTTMUST00000007425	VEGA | MGI Sequence Detail	2307	Not Applicable
polypeptide	OTTMUSP00000003574	VEGA | MGI Sequence Detail	318	Not Applicable

All sequences(77) RefSeq(14) UniProt(7)

Polymorphisms

SNPs within 2kb(116 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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)