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Protein

Mitochondrial thiamine pyrophosphate carrier

Gene

SLC25A19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • deoxynucleotide transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • deoxynucleotide transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125454-MONOMER.
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

HGNCiHGNC:14409. SLC25A19.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs119473030dbSNPEnsembl.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 rs387906944dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi60386.
MalaCardsiSLC25A19.
MIMi607196. phenotype.
613710. phenotype.
OpenTargetsiENSG00000125454.
Orphaneti99742. Amish lethal microcephaly.
217396. Progressive demyelinating neuropathy 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.

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.
CleanExiHS_SLC25A19.
ExpressionAtlasiQ9HC21. baseline and differential.
GenevisibleiQ9HC21. HS.

Interactioni

Protein-protein interaction databases

BioGridi121903. 16 interactors.
IntActiQ9HC21. 16 interactors.
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

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 rs387906944dbSNPEnsembl.1
Natural variantiVAR_014103177G → A in MCPHA. 1 PublicationCorresponds to variant rs119473030dbSNPEnsembl.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

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. 16 interactors.
IntActiQ9HC21. 16 interactors.
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.

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.
GeneCardsiSLC25A19.
GeneReviewsiSLC25A19.
HGNCiHGNC:14409. SLC25A19.
MalaCardsiSLC25A19.
MIMi606521. gene.
607196. phenotype.
613710. phenotype.
neXtProtiNX_Q9HC21.
OpenTargetsiENSG00000125454.
Orphaneti99742. Amish lethal microcephaly.
217396. Progressive demyelinating neuropathy with bilateral striatal necrosis.
PharmGKBiPA37879.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125454-MONOMER.
ReactomeiR-HSA-196819. Vitamin B1 (thiamin) metabolism.

Miscellaneous databases

GeneWikiiSLC25A19.
GenomeRNAii60386.
PROiQ9HC21.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125454.
CleanExiHS_SLC25A19.
ExpressionAtlasiQ9HC21. baseline and differential.
GenevisibleiQ9HC21. HS.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTPC_HUMAN
AccessioniPrimary (citable) accession number: Q9HC21
Secondary accession number(s): E9PF74, Q6V9R7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.