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Q9HC21

- TPC_HUMAN

UniProt

Q9HC21 - TPC_HUMAN

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Protein

Mitochondrial thiamine pyrophosphate carrier

Gene

SLC25A19

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. deoxynucleotide transmembrane transporter activity Source: UniProtKB

GO - Biological processi

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

Keywords - Biological processi

Transport

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:14409. SLC25A19.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB-KW
  3. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771G → A in MCPHA. 1 Publication
VAR_014103
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251G → S in THMD4; affects function as shown by complementation studies in yeast. 1 Publication
VAR_065125

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

MIMi607196. phenotype.
613710. phenotype.
Orphaneti99742. Amish lethal microcephaly.
217396. Progressive demyelinating neuropathy with bilateral striatal necrosis.
PharmGKBiPA37879.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 320320Mitochondrial thiamine pyrophosphate carrierPRO_0000090611Add
BLAST

Proteomic databases

MaxQBiQ9HC21.
PaxDbiQ9HC21.
PRIDEiQ9HC21.

PTM databases

PhosphoSiteiQ9HC21.

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

BgeeiQ9HC21.
CleanExiHS_SLC25A19.
ExpressionAtlasiQ9HC21. baseline and differential.
GenevestigatoriQ9HC21.

Interactioni

Protein-protein interaction databases

BioGridi121903. 1 interaction.
IntActiQ9HC21. 2 interactions.
STRINGi9606.ENSP00000319574.

Structurei

3D structure databases

ProteinModelPortaliQ9HC21.
SMRiQ9HC21. Positions 20-305.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei19 – 3921Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei87 – 10721Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei122 – 14221Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei173 – 19321Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei220 – 24021Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei293 – 31321Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati13 – 10694Solcar 1Add
BLAST
Repeati116 – 20287Solcar 2Add
BLAST
Repeati214 – 30996Solcar 3Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi241 – 2466Substrate recognitionBy similarity

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG310116.
GeneTreeiENSGT00550000074902.
HOGENOMiHOG000165726.
HOVERGENiHBG105731.
InParanoidiQ9HC21.
KOiK15108.
OMAiMFFWYEF.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti186 – 1861F → L in AAQ54327. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251G → S in THMD4; affects function as shown by complementation studies in yeast. 1 Publication
VAR_065125
Natural varianti177 – 1771G → A in MCPHA. 1 Publication
VAR_014103

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei97 – 15357Missing in isoform 2. 1 PublicationVSP_053908Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005257559.1. [Q9HC21-1]
XP_005257617.1. XM_005257560.1. [Q9HC21-1]
XP_005257618.1. XM_005257561.1. [Q9HC21-1]
XP_005257619.1. XM_005257562.1. [Q9HC21-1]
XP_006722070.1. XM_006722007.1. [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.4. human. [Q9HC21-1]

Polymorphism databases

DMDMi20137652.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11720.1. [Q9HC21-1 ]
RefSeqi NP_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_005257559.1. [Q9HC21-1 ]
XP_005257617.1. XM_005257560.1. [Q9HC21-1 ]
XP_005257618.1. XM_005257561.1. [Q9HC21-1 ]
XP_005257619.1. XM_005257562.1. [Q9HC21-1 ]
XP_006722070.1. XM_006722007.1. [Q9HC21-1 ]
UniGenei Hs.514470.

3D structure databases

ProteinModelPortali Q9HC21.
SMRi Q9HC21. Positions 20-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121903. 1 interaction.
IntActi Q9HC21. 2 interactions.
STRINGi 9606.ENSP00000319574.

Protein family/group databases

TCDBi 2.A.29.16.1. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9HC21.

Polymorphism databases

DMDMi 20137652.

Proteomic databases

MaxQBi Q9HC21.
PaxDbi Q9HC21.
PRIDEi Q9HC21.

Protocols and materials databases

DNASUi 60386.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320362 ; 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 ]
GeneIDi 60386.
KEGGi hsa:60386.
UCSCi uc002jns.4. human. [Q9HC21-1 ]

Organism-specific databases

CTDi 60386.
GeneCardsi GC17M073266.
GeneReviewsi SLC25A19.
HGNCi HGNC:14409. SLC25A19.
MIMi 606521. gene.
607196. phenotype.
613710. phenotype.
neXtProti NX_Q9HC21.
Orphaneti 99742. Amish lethal microcephaly.
217396. Progressive demyelinating neuropathy with bilateral striatal necrosis.
PharmGKBi PA37879.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310116.
GeneTreei ENSGT00550000074902.
HOGENOMi HOG000165726.
HOVERGENi HBG105731.
InParanoidi Q9HC21.
KOi K15108.
OMAi MFFWYEF.
PhylomeDBi Q9HC21.
TreeFami TF313047.

Miscellaneous databases

GeneWikii SLC25A19.
GenomeRNAii 60386.
NextBioi 35501809.
PROi Q9HC21.
SOURCEi Search...

Gene expression databases

Bgeei Q9HC21.
CleanExi HS_SLC25A19.
ExpressionAtlasi Q9HC21. baseline and differential.
Genevestigatori Q9HC21.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals."
    Dolce V., Fiermonte G., Runswick M.J., Palmieri F., Walker J.E.
    Proc. Natl. Acad. Sci. U.S.A. 98:2284-2288(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION, TISSUE SPECIFICITY.
    Tissue: Liver.
  2. "MUP 1, a mitochondrial uncoupling protein."
    Renard S., Mondesert G., Besnard F.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Li H., Yu R., Zhou G., Ke R., Shen C., Lin L., Yang S.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  6. "The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier."
    Kang J., Samuels D.C.
    Mitochondrion 8:103-108(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: VARIANT MCPHA ALA-177.
  9. "SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis."
    Spiegel R., Shaag A., Edvardson S., Mandel H., Stepensky P., Shalev S.A., Horovitz Y., Pines O., Elpeleg O.
    Ann. Neurol. 66:419-424(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THMD4 SER-125, CHARACTERIZATION OF VARIANT THMD4 SER-125.

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: October 29, 2014
This is version 129 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

External Data

Dasty 3