SLC25A19
entrez
60386
canonical
uniprot
Q9HC21
canonical
ensembl
ENSG00000125454
resolver
ensp
ENSP00000397818
resolver
ensp
ENSP00000402202
resolver
ensp
ENSP00000462214
resolver
ensp
ENSP00000463795
resolver
ensp
ENSP00000565880
resolver
ensp
ENSP00000565883
resolver
ensp
ENSP00000591286
resolver
ensp
ENSP00000591287
resolver
ensp
ENSP00000626655
resolver
ensp
ENSP00000626657
resolver
genesymbol
DKFZp667O1614
resolver
genesymbol
SLC25A19
resolver
genesymbol_syn
DNC
resolver
genesymbol_syn
MUP1
resolver
genesymbol_syn
SLC25A19
resolver
hgnc
HGNC:14409
resolver
uniprot
E9PF74
resolver
uniprot
Q5JPC1
resolver
uniprot
Q6V9R7
resolver
uniprot_entry
Q5JPC1_HUMAN
resolver
uniprot_entry
TPC_HUMAN
resolver
uniprot_sec
E9PF74
resolver
uniprot_sec
Q6V9R7
resolver
amino_acid_sequence
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. {ECO:0000269|PubMed:12185364, ECO:0000269|PubMed:17035501}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO:0000269|PubMed:19798730, ECO:0000269|PubMed:31506564}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient. {ECO:0000269|PubMed:17035501, ECO:0000269|PubMed:18280798, ECO:0000269|PubMed:27188525, ECO:0000269|PubMed:34587972}.
uniprot
proteins
mass_dalton
35511
uniprot
proteins
mutagenesis
MUTAGEN 29; /note="T->A: Does not affect thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 30; /note="R->A: Does not affect thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 33; /note="I->A: Decreases thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 34; /note="S->A: Decreases thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 37; /note="D->A: Decreases thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 82; /note="H->A: Does not affect thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 137; /note="H->A: Decreases thiamine pyrophosphate transmembrane transporter activity. Does not affect protein expression."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 231; /note="K->A: Does not affect thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 291; /note="K->A: Decreases thiamine pyrophosphate transmembrane transporter activity. Does not affect protein expression."; /evidence="ECO:0000269|PubMed:27188525"; MUTAGEN 298; /note="F->A: Does not affect thiamine pyrophosphate transmembrane transporter activity."; /evidence="ECO:0000269|PubMed:27188525
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
11226231
uniprot
proteins
pubmed
12185364
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15539640
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17035501
uniprot
proteins
pubmed
18280798
uniprot
proteins
pubmed
19798730
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27188525
uniprot
proteins
pubmed
31506564
uniprot
proteins
pubmed
34587972
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:15539640, ECO:0000269|PubMed:27188525, ECO:0000269|PubMed:31506564}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 19..39; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 87..107; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 173..193; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 220..240; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 293..313; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins