Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Mitochondrial thiamine pyrophosphate carrier

Gene

SLC25A19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.1 Publication

Miscellaneous

The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity).By similarity

GO - Molecular functioni

  • deoxynucleotide transmembrane transporter activity Source: UniProtKB
  • thiamine pyrophosphate transmembrane transporter activity Source: Reactome
  • thiamine transmembrane transporter activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism

Protein family/group databases

TCDBi2.A.29.16.1 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial thiamine pyrophosphate carrier
Alternative name(s):
Mitochondrial uncoupling protein 1
Solute carrier family 25 member 19
Gene namesi
Name:SLC25A19
Synonyms:DNC, MUP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000125454.11
HGNCiHGNC:14409 SLC25A19
MIMi606521 gene
neXtProtiNX_Q9HC21

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei19 – 39Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei87 – 107Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei122 – 142Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei173 – 193Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei220 – 240Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei293 – 313Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Microcephaly, Amish type (MCPHA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.
See also OMIM:607196
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014103177G → A in MCPHA. 1 PublicationCorresponds to variant dbSNP:rs119473030EnsemblClinVar.1
Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
See also OMIM:613710
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065125125G → S in THMD4; affects function as shown by complementation studies in yeast. 1 PublicationCorresponds to variant dbSNP:rs387906944EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi60386
GeneReviewsiSLC25A19
MalaCardsiSLC25A19
MIMi607196 phenotype
613710 phenotype
OpenTargetsiENSG00000125454
Orphaneti99742 Amish lethal microcephaly
217396 Progressive polyneuropathy with bilateral striatal necrosis
PharmGKBiPA37879

Polymorphism and mutation databases

BioMutaiSLC25A19
DMDMi20137652

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000906111 – 320Mitochondrial thiamine pyrophosphate carrierAdd BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei51PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HC21
MaxQBiQ9HC21
PaxDbiQ9HC21
PeptideAtlasiQ9HC21
PRIDEiQ9HC21
ProteomicsDBi81625

PTM databases

iPTMnetiQ9HC21
PhosphoSitePlusiQ9HC21

Expressioni

Tissue specificityi

Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.1 Publication

Gene expression databases

BgeeiENSG00000125454 Expressed in 176 organ(s), highest expression level in testis
CleanExiHS_SLC25A19
ExpressionAtlasiQ9HC21 baseline and differential
GenevisibleiQ9HC21 HS

Interactioni

Protein-protein interaction databases

BioGridi121903, 18 interactors
IntActiQ9HC21, 18 interactors
MINTiQ9HC21
STRINGi9606.ENSP00000319574

Structurei

3D structure databases

ProteinModelPortaliQ9HC21
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati13 – 106Solcar 1Add BLAST94
Repeati116 – 202Solcar 2Add BLAST87
Repeati214 – 309Solcar 3Add BLAST96

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi241 – 246Substrate recognitionBy similarity6

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0752 Eukaryota
ENOG410ZRF1 LUCA
GeneTreeiENSGT00550000074902
HOGENOMiHOG000165726
HOVERGENiHBG105731
InParanoidiQ9HC21
KOiK15108
OMAiEPRVYKT
OrthoDBiEOG091G0FNV
PhylomeDBiQ9HC21
TreeFamiTF313047

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067 Mit_carrier
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PANTHERiPTHR24089 PTHR24089, 1 hit
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00926 MITOCARRIER
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HC21-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVGYDPKPDG RNNTKFQVAV AGSVSGLVTR ALISPFDVIK IRFQLQHERL
60 70 80 90 100
SRSDPSAKYH GILQASRQIL QEEGPTAFWK GHVPAQILSI GYGAVQFLSF
110 120 130 140 150
EMLTELVHRG SVYDAREFSV HFVCGGLAAC MATLTVHPVD VLRTRFAAQG
160 170 180 190 200
EPKVYNTLRH AVGTMYRSEG PQVFYKGLAP TLIAIFPYAG LQFSCYSSLK
210 220 230 240 250
HLYKWAIPAE GKKNENLQNL LCGSGAGVIS KTLTYPLDLF KKRLQVGGFE
260 270 280 290 300
HARAAFGQVR RYKGLMDCAK QVLQKEGALG FFKGLSPSLL KAALSTGFMF
310 320
FSYEFFCNVF HCMNRTASQR
Length:320
Mass (Da):35,511
Last modified:March 1, 2001 - v1
Checksum:i57CE0F01D538B1BE
GO
Isoform 2 (identifier: Q9HC21-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     97-153: Missing.

Show »
Length:263
Mass (Da):29,217
Checksum:iC8AB0D60A989456C
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QLV3J3QLV3_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
153Annotation score:
J3KSB1J3KSB1_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
67Annotation score:
J3KS44J3KS44_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
151Annotation score:
J3KSI7J3KSI7_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
85Annotation score:
J3KRY6J3KRY6_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
182Annotation score:
J3KTL0J3KTL0_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
84Annotation score:
J3QL84J3QL84_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
105Annotation score:
J3QS02J3QS02_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
39Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti186F → L in AAQ54327 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065125125G → S in THMD4; affects function as shown by complementation studies in yeast. 1 PublicationCorresponds to variant dbSNP:rs387906944EnsemblClinVar.1
Natural variantiVAR_014103177G → A in MCPHA. 1 PublicationCorresponds to variant dbSNP:rs119473030EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05390897 – 153Missing in isoform 2. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251857 mRNA Translation: CAC27560.1
AJ301616 Genomic DNA Translation: CAC37793.1
AF182404 mRNA Translation: AAG16903.1
AY346372 mRNA Translation: AAQ54327.1
AC022211 Genomic DNA No translation available.
BC001075 mRNA Translation: AAH01075.1
BC005120 mRNA Translation: AAH05120.1
CCDSiCCDS11720.1 [Q9HC21-1]
RefSeqiNP_001119593.1, NM_001126121.1 [Q9HC21-1]
NP_001119594.1, NM_001126122.1 [Q9HC21-1]
NP_068380.3, NM_021734.4 [Q9HC21-1]
XP_005257616.1, XM_005257559.3 [Q9HC21-1]
XP_005257617.1, XM_005257560.2 [Q9HC21-1]
XP_005257618.1, XM_005257561.3 [Q9HC21-1]
XP_005257619.1, XM_005257562.2 [Q9HC21-1]
XP_006722070.1, XM_006722007.2 [Q9HC21-1]
XP_016880415.1, XM_017024926.1 [Q9HC21-1]
UniGeneiHs.514470

Genome annotation databases

EnsembliENST00000320362; ENSP00000319574; ENSG00000125454 [Q9HC21-1]
ENST00000375261; ENSP00000364410; ENSG00000125454 [Q9HC21-2]
ENST00000402418; ENSP00000385312; ENSG00000125454 [Q9HC21-1]
ENST00000416858; ENSP00000397818; ENSG00000125454 [Q9HC21-1]
ENST00000442286; ENSP00000402202; ENSG00000125454 [Q9HC21-1]
ENST00000580994; ENSP00000463795; ENSG00000125454 [Q9HC21-1]
GeneIDi60386
KEGGihsa:60386
UCSCiuc002jns.5 human [Q9HC21-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251857 mRNA Translation: CAC27560.1
AJ301616 Genomic DNA Translation: CAC37793.1
AF182404 mRNA Translation: AAG16903.1
AY346372 mRNA Translation: AAQ54327.1
AC022211 Genomic DNA No translation available.
BC001075 mRNA Translation: AAH01075.1
BC005120 mRNA Translation: AAH05120.1
CCDSiCCDS11720.1 [Q9HC21-1]
RefSeqiNP_001119593.1, NM_001126121.1 [Q9HC21-1]
NP_001119594.1, NM_001126122.1 [Q9HC21-1]
NP_068380.3, NM_021734.4 [Q9HC21-1]
XP_005257616.1, XM_005257559.3 [Q9HC21-1]
XP_005257617.1, XM_005257560.2 [Q9HC21-1]
XP_005257618.1, XM_005257561.3 [Q9HC21-1]
XP_005257619.1, XM_005257562.2 [Q9HC21-1]
XP_006722070.1, XM_006722007.2 [Q9HC21-1]
XP_016880415.1, XM_017024926.1 [Q9HC21-1]
UniGeneiHs.514470

3D structure databases

ProteinModelPortaliQ9HC21
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121903, 18 interactors
IntActiQ9HC21, 18 interactors
MINTiQ9HC21
STRINGi9606.ENSP00000319574

Protein family/group databases

TCDBi2.A.29.16.1 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9HC21
PhosphoSitePlusiQ9HC21

Polymorphism and mutation databases

BioMutaiSLC25A19
DMDMi20137652

Proteomic databases

EPDiQ9HC21
MaxQBiQ9HC21
PaxDbiQ9HC21
PeptideAtlasiQ9HC21
PRIDEiQ9HC21
ProteomicsDBi81625

Protocols and materials databases

DNASUi60386
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320362; ENSP00000319574; ENSG00000125454 [Q9HC21-1]
ENST00000375261; ENSP00000364410; ENSG00000125454 [Q9HC21-2]
ENST00000402418; ENSP00000385312; ENSG00000125454 [Q9HC21-1]
ENST00000416858; ENSP00000397818; ENSG00000125454 [Q9HC21-1]
ENST00000442286; ENSP00000402202; ENSG00000125454 [Q9HC21-1]
ENST00000580994; ENSP00000463795; ENSG00000125454 [Q9HC21-1]
GeneIDi60386
KEGGihsa:60386
UCSCiuc002jns.5 human [Q9HC21-1]

Organism-specific databases

CTDi60386
DisGeNETi60386
EuPathDBiHostDB:ENSG00000125454.11
GeneCardsiSLC25A19
GeneReviewsiSLC25A19
HGNCiHGNC:14409 SLC25A19
MalaCardsiSLC25A19
MIMi606521 gene
607196 phenotype
613710 phenotype
neXtProtiNX_Q9HC21
OpenTargetsiENSG00000125454
Orphaneti99742 Amish lethal microcephaly
217396 Progressive polyneuropathy with bilateral striatal necrosis
PharmGKBiPA37879
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0752 Eukaryota
ENOG410ZRF1 LUCA
GeneTreeiENSGT00550000074902
HOGENOMiHOG000165726
HOVERGENiHBG105731
InParanoidiQ9HC21
KOiK15108
OMAiEPRVYKT
OrthoDBiEOG091G0FNV
PhylomeDBiQ9HC21
TreeFamiTF313047

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism

Miscellaneous databases

GeneWikiiSLC25A19
GenomeRNAii60386
PROiPR:Q9HC21
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125454 Expressed in 176 organ(s), highest expression level in testis
CleanExiHS_SLC25A19
ExpressionAtlasiQ9HC21 baseline and differential
GenevisibleiQ9HC21 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067 Mit_carrier
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PANTHERiPTHR24089 PTHR24089, 1 hit
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00926 MITOCARRIER
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiTPC_HUMAN
AccessioniPrimary (citable) accession number: Q9HC21
Secondary accession number(s): E9PF74, Q6V9R7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again