Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9HC21

- TPC_HUMAN

UniProt

Q9HC21 - TPC_HUMAN

Protein

Mitochondrial thiamine pyrophosphate carrier

Gene

SLC25A19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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-SubCell
    3. nucleus Source: UniProt

    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

    ArrayExpressiQ9HC21.
    BgeeiQ9HC21.
    CleanExiHS_SLC25A19.
    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.
    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

    MVGYDPKPDG RNNTKFQVAV AGSVSGLVTR ALISPFDVIK IRFQLQHERL    50
    SRSDPSAKYH GILQASRQIL QEEGPTAFWK GHVPAQILSI GYGAVQFLSF 100
    EMLTELVHRG SVYDAREFSV HFVCGGLAAC MATLTVHPVD VLRTRFAAQG 150
    EPKVYNTLRH AVGTMYRSEG PQVFYKGLAP TLIAIFPYAG LQFSCYSSLK 200
    HLYKWAIPAE GKKNENLQNL LCGSGAGVIS KTLTYPLDLF KKRLQVGGFE 250
    HARAAFGQVR RYKGLMDCAK QVLQKEGALG FFKGLSPSLL KAALSTGFMF 300
    FSYEFFCNVF HCMNRTASQR 320
    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.
    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

    ArrayExpressi Q9HC21.
    Bgeei Q9HC21.
    CleanExi HS_SLC25A19.
    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

    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 1, 2014
    This is version 128 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