SLC25A19 | ENSG00000125454 | NCBI 60386

Details for: SLC25A19

Gene ID: 60386

Symbol: SLC25A19

Ensembl ID: ENSG00000125454

Description: solute carrier family 25 member 19

Associated with

Metabolism
(R-HSA-1430728)
Metabolism of vitamins and cofactors
(R-HSA-196854)
Metabolism of water-soluble vitamins and cofactors
(R-HSA-196849)
Vitamin b1 (thiamin) metabolism
(R-HSA-196819)
Antiporter activity
(GO:0015297)
Deoxynucleotide transmembrane transporter activity
(GO:0030233)
Deoxynucleotide transport
(GO:0030302)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrion
(GO:0005739)
Nucleus
(GO:0005634)
Thiamine-containing compound metabolic process
(GO:0042723)
Thiamine diphosphate biosynthetic process
(GO:0009229)
Thiamine pyrophosphate transmembrane transport
(GO:0030974)
Thiamine pyrophosphate transmembrane transporter activity
(GO:0090422)
Thiamine transmembrane transporter activity
(GO:0015234)

Other Information

Proteins

Mitochondrial thiamine pyrophosphate carrier

Genular Protein ID: 3036500615

Symbol: TPC_HUMAN

Name: Mitochondrial thiamine pyrophosphate carrier

UniProtKB Accession Codes:

Q9HC21 E9PF74 Q6V9R7

Database IDs:

Citations:

PubMed ID: 11226231

Title: The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals.

PubMed ID: 11226231

DOI: 10.1073/pnas.031430998

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15539640

Title: Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake.

PubMed ID: 15539640

DOI: 10.1124/mol.104.007120

PubMed ID: 18280798

Title: The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.

PubMed ID: 18280798

DOI: 10.1016/j.mito.2008.01.001

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 12185364

Title: Mutant deoxynucleotide carrier is associated with congenital microcephaly.

PubMed ID: 12185364

DOI: 10.1038/ng948

PubMed ID: 17035501

Title: Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.

PubMed ID: 17035501

DOI: 10.1073/pnas.0607661103

PubMed ID: 19798730

Title: SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

PubMed ID: 19798730

DOI: 10.1002/ana.21752

PubMed ID: 27188525

Title: Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).

PubMed ID: 27188525

DOI: 10.1016/j.bbamem.2016.05.011

PubMed ID: 31506564

Title: Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

PubMed ID: 31506564

DOI: 10.1038/s10038-019-0666-5

PubMed ID: 34587972

Title: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

PubMed ID: 34587972

DOI: 10.1186/s13023-021-02028-4

Sequence Information:

Length: 320
Mass: 35511
Checksum: 57CE0F01D538B1BE
Sequence:

MVGYDPKPDG RNNTKFQVAV AGSVSGLVTR ALISPFDVIK IRFQLQHERL SRSDPSAKYH 
GILQASRQIL QEEGPTAFWK GHVPAQILSI GYGAVQFLSF EMLTELVHRG SVYDAREFSV 
HFVCGGLAAC MATLTVHPVD VLRTRFAAQG EPKVYNTLRH AVGTMYRSEG PQVFYKGLAP 
TLIAIFPYAG LQFSCYSSLK HLYKWAIPAE GKKNENLQNL LCGSGAGVIS KTLTYPLDLF 
KKRLQVGGFE HARAAFGQVR RYKGLMDCAK QVLQKEGALG FFKGLSPSLL KAALSTGFMF 
FSYEFFCNVF HCMNRTASQR

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SLC25A19

Associated with

Other Information

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. PubMed ID: 11226231

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake. PubMed ID: 15539640

The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. PubMed ID: 18280798

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Mutant deoxynucleotide carrier is associated with congenital microcephaly. PubMed ID: 12185364

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. PubMed ID: 17035501

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. PubMed ID: 19798730

Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291). PubMed ID: 27188525

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4. PubMed ID: 31506564

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4. PubMed ID: 34587972