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P53007

- TXTP_HUMAN

UniProt

P53007 - TXTP_HUMAN

Protein

Tricarboxylate transport protein, mitochondrial

Gene

SLC25A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (11 Feb 2002)
      Previous versions | rss
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    Functioni

    Involved in citrate-H+/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD+ for the glycolytic pathway.

    GO - Molecular functioni

    1. citrate transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cellular lipid metabolic process Source: Reactome
    3. citrate transport Source: GOC
    4. gluconeogenesis Source: Reactome
    5. glucose metabolic process Source: Reactome
    6. long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. triglyceride biosynthetic process Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_1319. Fatty Acyl-CoA Biosynthesis.
    REACT_1520. Gluconeogenesis.

    Protein family/group databases

    TCDBi2.A.29.7.2. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tricarboxylate transport protein, mitochondrial
    Alternative name(s):
    Citrate transport protein
    Short name:
    CTP
    Solute carrier family 25 member 1
    Tricarboxylate carrier protein
    Gene namesi
    Name:SLC25A1
    Synonyms:SLC20A3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:10979. SLC25A1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. mitochondrial inner membrane Source: Reactome
    4. nucleus Source: UniProt

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451P → L in D2L2AD. 1 Publication
    VAR_069490
    Natural varianti144 – 1441E → Q in D2L2AD. 1 Publication
    VAR_069491
    Natural varianti167 – 1671G → R in D2L2AD. 1 Publication
    VAR_069492
    Natural varianti193 – 1931S → W in D2L2AD. 1 Publication
    VAR_069493
    Natural varianti202 – 2021M → T in D2L2AD. 1 Publication
    VAR_069494
    Natural varianti282 – 2821R → C in D2L2AD. 1 Publication
    VAR_069495
    Natural varianti282 – 2821R → G in D2L2AD. 1 Publication
    VAR_069496
    Natural varianti297 – 2971Y → C in D2L2AD. 1 Publication
    VAR_069497

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615182. phenotype.
    Orphaneti356978. D,L-2-hydroxyglutaric aciduria.
    PharmGKBiPA35855.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 1313MitochondrionBy similarityAdd
    BLAST
    Chaini14 – 311298Tricarboxylate transport protein, mitochondrialPRO_0000019262Add
    BLAST

    Proteomic databases

    MaxQBiP53007.
    PaxDbiP53007.
    PeptideAtlasiP53007.
    PRIDEiP53007.

    PTM databases

    PhosphoSiteiP53007.

    Expressioni

    Gene expression databases

    ArrayExpressiP53007.
    BgeeiP53007.
    CleanExiHS_SLC25A1.
    GenevestigatoriP53007.

    Organism-specific databases

    HPAiHPA030183.

    Interactioni

    Protein-protein interaction databases

    BioGridi112464. 20 interactions.
    IntActiP53007. 10 interactions.
    MINTiMINT-1153318.
    STRINGi9606.ENSP00000215882.

    Structurei

    3D structure databases

    ProteinModelPortaliP53007.
    SMRiP53007. Positions 27-300.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei29 – 4618Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei86 – 10520Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei129 – 14315Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei183 – 20220Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei224 – 24118Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei278 – 29720Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati23 – 11189Solcar 1Add
    BLAST
    Repeati122 – 20887Solcar 2Add
    BLAST
    Repeati218 – 30386Solcar 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306627.
    HOVERGENiHBG103009.
    InParanoidiP53007.
    KOiK15100.
    OMAiFMIYDSI.
    PhylomeDBiP53007.
    TreeFamiTF105786.

    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]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P53007-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPAPRAPRAL AAAAPASGKA KLTHPGKAIL AGGLAGGIEI CITFPTEYVK    50
    TQLQLDERSH PPRYRGIGDC VRQTVRSHGV LGLYRGLSSL LYGSIPKAAV 100
    RFGMFEFLSN HMRDAQGRLD STRGLLCGLG AGVAEAVVVV CPMETIKVKF 150
    IHDQTSPNPK YRGFFHGVRE IVREQGLKGT YQGLTATVLK QGSNQAIRFF 200
    VMTSLRNWYR GDNPNKPMNP LITGVFGAIA GAASVFGNTP LDVIKTRMQG 250
    LEAHKYRNTW DCGLQILKKE GLKAFYKGTV PRLGRVCLDV AIVFVIYDEV 300
    VKLLNKVWKT D 311
    Length:311
    Mass (Da):34,013
    Last modified:February 11, 2002 - v2
    Checksum:iF1341629924953D6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 261G → E in AAB08515. (PubMed:8666394)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451P → L in D2L2AD. 1 Publication
    VAR_069490
    Natural varianti144 – 1441E → Q in D2L2AD. 1 Publication
    VAR_069491
    Natural varianti167 – 1671G → R in D2L2AD. 1 Publication
    VAR_069492
    Natural varianti193 – 1931S → W in D2L2AD. 1 Publication
    VAR_069493
    Natural varianti202 – 2021M → T in D2L2AD. 1 Publication
    VAR_069494
    Natural varianti282 – 2821R → C in D2L2AD. 1 Publication
    VAR_069495
    Natural varianti282 – 2821R → G in D2L2AD. 1 Publication
    VAR_069496
    Natural varianti297 – 2971Y → C in D2L2AD. 1 Publication
    VAR_069497

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U25147 mRNA. Translation: AAB08515.1.
    L76134 Genomic DNA. Translation: AAL40091.1.
    L75823 mRNA. Translation: AAL40090.1.
    AK292313 mRNA. Translation: BAF85002.1.
    BC004980 mRNA. Translation: AAH04980.1.
    BC008061 mRNA. Translation: AAH08061.1.
    CCDSiCCDS13758.1.
    PIRiG01789.
    RefSeqiNP_005975.1. NM_005984.4.
    UniGeneiHs.111024.

    Genome annotation databases

    EnsembliENST00000215882; ENSP00000215882; ENSG00000100075.
    GeneIDi6576.
    KEGGihsa:6576.
    UCSCiuc002zoy.4. human.

    Polymorphism databases

    DMDMi20141931.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U25147 mRNA. Translation: AAB08515.1 .
    L76134 Genomic DNA. Translation: AAL40091.1 .
    L75823 mRNA. Translation: AAL40090.1 .
    AK292313 mRNA. Translation: BAF85002.1 .
    BC004980 mRNA. Translation: AAH04980.1 .
    BC008061 mRNA. Translation: AAH08061.1 .
    CCDSi CCDS13758.1.
    PIRi G01789.
    RefSeqi NP_005975.1. NM_005984.4.
    UniGenei Hs.111024.

    3D structure databases

    ProteinModelPortali P53007.
    SMRi P53007. Positions 27-300.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112464. 20 interactions.
    IntActi P53007. 10 interactions.
    MINTi MINT-1153318.
    STRINGi 9606.ENSP00000215882.

    Chemistry

    GuidetoPHARMACOLOGYi 1051.

    Protein family/group databases

    TCDBi 2.A.29.7.2. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei P53007.

    Polymorphism databases

    DMDMi 20141931.

    Proteomic databases

    MaxQBi P53007.
    PaxDbi P53007.
    PeptideAtlasi P53007.
    PRIDEi P53007.

    Protocols and materials databases

    DNASUi 6576.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000215882 ; ENSP00000215882 ; ENSG00000100075 .
    GeneIDi 6576.
    KEGGi hsa:6576.
    UCSCi uc002zoy.4. human.

    Organism-specific databases

    CTDi 6576.
    GeneCardsi GC22M019163.
    H-InvDB HIX0040279.
    HGNCi HGNC:10979. SLC25A1.
    HPAi HPA030183.
    MIMi 190315. gene.
    615182. phenotype.
    neXtProti NX_P53007.
    Orphaneti 356978. D,L-2-hydroxyglutaric aciduria.
    PharmGKBi PA35855.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306627.
    HOVERGENi HBG103009.
    InParanoidi P53007.
    KOi K15100.
    OMAi FMIYDSI.
    PhylomeDBi P53007.
    TreeFami TF105786.

    Enzyme and pathway databases

    Reactomei REACT_1319. Fatty Acyl-CoA Biosynthesis.
    REACT_1520. Gluconeogenesis.

    Miscellaneous databases

    ChiTaRSi SLC25A1. human.
    GeneWikii SLC25A1.
    GenomeRNAii 6576.
    NextBioi 25587.
    PROi P53007.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P53007.
    Bgeei P53007.
    CleanExi HS_SLC25A1.
    Genevestigatori P53007.

    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. "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region."
      Heisterkamp N., Mulder M.P., Langeveld A., ten Hoeve J., Wang Z., Roe B., Groffen J.
      Genomics 29:451-456(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region."
      Goldmuntz E., Wang Z., Roe B.A., Budarf M.L.
      Genomics 33:271-276(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    4. "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].
      Tissue: Kidney.
    5. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: VARIANTS D2L2AD LEU-45; GLN-144; ARG-167; TRP-193; THR-202; CYS-282; GLY-282 AND CYS-297.

    Entry informationi

    Entry nameiTXTP_HUMAN
    AccessioniPrimary (citable) accession number: P53007
    Secondary accession number(s): A8K8E8, Q9BSK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: February 11, 2002
    Last modified: October 1, 2014
    This is version 139 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: 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