Free for academic non-profit institutions. Other users need a Commercial license
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]
SLC25A19 (Solute Carrier Family 25 Member 19) is a Protein Coding gene. Diseases associated with SLC25A19 include Microcephaly, Amish Type and Thiamine Metabolism Dysfunction Syndrome 4. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include deoxynucleotide transmembrane transporter activity. An important paralog of this gene is SLC25A12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005347 | ATP transmembrane transporter activity | IEA | -- |
GO:0015234 | thiamine transmembrane transporter activity | IBA | 21873635 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO:0030233 | deoxynucleotide transmembrane transporter activity | TAS | 11226231 |
GO:0090422 | thiamine pyrophosphate transmembrane transporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015867 | ATP transport | IEA | -- |
GO:0030302 | deoxynucleotide transport | NAS | 11226231 |
GO:0030974 | thiamine pyrophosphate transmembrane transport | IBA | 21873635 |
GO:0042723 | thiamine-containing compound metabolic process | TAS | -- |
GO:0055085 | transmembrane transport | IEA | -- |
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: | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC25A19 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC25A19 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC25A19 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc25a19 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc25a19 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC25A19 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A19 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC25A19 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC25A19 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc25a19 30 |
|
||
Str.3933 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | slc25a19 30 31 |
|
OneToOne | |
wufj01c08 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006806 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tpc1 30 31 |
|
OneToMany | |
CG6608 32 |
|
|
|||
CG2857 32 |
|
|
|||
Tpc2 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | hpo-12 30 |
|
||
C42C1.10 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR036W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D15015g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TPC1 30 33 |
|
||
-- 31 |
|
OneToOne | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G48970 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0934200 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07384 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC1604.04 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
676198 | Benign: not provided | 75,277,222(-) | G/C | INTRON_VARIANT | |
692004 | Likely Pathogenic: Amish lethal microcephaly | 75,278,325(-) | G/A | MISSENSE_VARIANT | |
692005 | Pathogenic: Amish lethal microcephaly | 75,273,640(-) | C/G | SPLICE_ACCEPTOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
752204 | Likely Benign: not provided | 75,286,690(-) | A/C | SYNONYMOUS_VARIANT | |
755591 | Likely Benign: not provided | 75,273,535(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2671377 | CNV | deletion | 23128226 |
esv2716237 | CNV | deletion | 23290073 |
esv3554784 | CNV | deletion | 23714750 |
nsv1066312 | CNV | gain | 25217958 |
nsv510727 | CNV | deletion | 20534489 |
nsv576027 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly, amish type |
|
|
thiamine metabolism dysfunction syndrome 4 |
|
|
microcephaly |
|
|
polyneuropathy |
|
|
dry beriberi |
|
|