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Entry version 183 (05 Jun 2019)
Sequence version 2 (11 Feb 2002)
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Protein

Tricarboxylate transport protein, mitochondrial

Gene

SLC25A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate (PubMed:29031613). 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. Required for proper neuromuscular junction formation (Probable).1 Publication2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=7.5 µM for citrate1 Publication

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Biological processTransport

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-70263 Gluconeogenesis
    R-HSA-75105 Fatty acyl-CoA biosynthesis

    Protein family/group databases

    Transport Classification Database

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

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:SLC25A1
    Synonyms:SLC20A3
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:10979 SLC25A1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    190315 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P53007

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei29 – 46Helical; Name=1Sequence analysisAdd BLAST18
    Transmembranei86 – 105Helical; Name=2Sequence analysisAdd BLAST20
    Transmembranei129 – 143Helical; Name=3Sequence analysisAdd BLAST15
    Transmembranei183 – 202Helical; Name=4Sequence analysisAdd BLAST20
    Transmembranei224 – 241Helical; Name=5Sequence analysisAdd BLAST18
    Transmembranei278 – 297Helical; Name=6Sequence analysisAdd BLAST20

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn 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.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08166128A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication1
    Natural variantiVAR_08166240I → N in D2L2AD; reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_06949045P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications1
    Natural variantiVAR_08166347E → K in D2L2AD; unknown pathological significance; severely reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_08166493G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_081665130G → D in D2L2AD; severely reduced rates of citrate transport. 2 Publications1
    Natural variantiVAR_069491144E → Q in D2L2AD; abolishes citrate transport. 2 Publications1
    Natural variantiVAR_069492167G → R in D2L2AD. 1 Publication1
    Natural variantiVAR_069493193S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl.1
    Natural variantiVAR_077511198R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl.1
    Natural variantiVAR_069494202M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl.1
    Natural variantiVAR_081666238N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication1
    Natural variantiVAR_081668256 – 311Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST56
    Natural variantiVAR_081669262C → R in D2L2AD; reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_069495282R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
    Natural variantiVAR_069496282R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
    Natural variantiVAR_081670282R → H in D2L2AD; abolishes citrate transport. 2 Publications1
    Natural variantiVAR_069497297Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications1
    Myasthenic syndrome, congenital, 23, presynaptic (CMS23)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_081667247R → Q in CMS23; reduced rates of citrate transport. 2 Publications1

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    6576

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    SLC25A1

    MalaCards human disease database

    More...
    MalaCardsi
    SLC25A1
    MIMi615182 phenotype
    618197 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000100075

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    356978 D,L-2-hydroxyglutaric aciduria
    98914 Presynaptic congenital myasthenic syndromes

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA35855

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC25A1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    20141931

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 13MitochondrionBy similarityAdd BLAST13
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001926214 – 311Tricarboxylate transport protein, mitochondrialAdd BLAST298

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei156PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P53007

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P53007

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P53007

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    P53007

    PeptideAtlas

    More...
    PeptideAtlasi
    P53007

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P53007

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    56567

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    P53007

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P53007

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    P53007

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P53007

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000100075 Expressed in 220 organ(s), highest expression level in liver

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P53007 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P53007 HS

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    112464, 126 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P53007, 57 interactors

    Molecular INTeraction database

    More...
    MINTi
    P53007

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000215882

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    P53007

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati23 – 111Solcar 1Add BLAST89
    Repeati122 – 208Solcar 2Add BLAST87
    Repeati218 – 303Solcar 3Add BLAST86

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0756 Eukaryota
    ENOG410YAYP LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00550000074856

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P53007

    KEGG Orthology (KO)

    More...
    KOi
    K15100

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    NSFVCAA

    Database of Orthologous Groups

    More...
    OrthoDBi
    1523221at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P53007

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105786

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.50.40.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR002067 Mit_carrier
    IPR018108 Mitochondrial_sb/sol_carrier
    IPR023395 Mt_carrier_dom_sf

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00153 Mito_carr, 3 hits

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00926 MITOCARRIER

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF103506 SSF103506, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS50920 SOLCAR, 3 hits

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

    P53007-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MPAPRAPRAL AAAAPASGKA KLTHPGKAIL AGGLAGGIEI CITFPTEYVK
    60 70 80 90 100
    TQLQLDERSH PPRYRGIGDC VRQTVRSHGV LGLYRGLSSL LYGSIPKAAV
    110 120 130 140 150
    RFGMFEFLSN HMRDAQGRLD STRGLLCGLG AGVAEAVVVV CPMETIKVKF
    160 170 180 190 200
    IHDQTSPNPK YRGFFHGVRE IVREQGLKGT YQGLTATVLK QGSNQAIRFF
    210 220 230 240 250
    VMTSLRNWYR GDNPNKPMNP LITGVFGAIA GAASVFGNTP LDVIKTRMQG
    260 270 280 290 300
    LEAHKYRNTW DCGLQILKKE GLKAFYKGTV PRLGRVCLDV AIVFVIYDEV
    310
    VKLLNKVWKT D
    Length:311
    Mass (Da):34,013
    Last modified:February 11, 2002 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF1341629924953D6
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B4DP62B4DP62_HUMAN
    Solute carrier family 25 (Mitochond...
    SLC25A1 hCG_17246
    208Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti26G → E in AAB08515 (PubMed:8666394).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08166128A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication1
    Natural variantiVAR_08166240I → N in D2L2AD; reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_06949045P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications1
    Natural variantiVAR_08166347E → K in D2L2AD; unknown pathological significance; severely reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_08166493G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_081665130G → D in D2L2AD; severely reduced rates of citrate transport. 2 Publications1
    Natural variantiVAR_069491144E → Q in D2L2AD; abolishes citrate transport. 2 Publications1
    Natural variantiVAR_069492167G → R in D2L2AD. 1 Publication1
    Natural variantiVAR_069493193S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl.1
    Natural variantiVAR_077511198R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl.1
    Natural variantiVAR_069494202M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl.1
    Natural variantiVAR_081666238N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication1
    Natural variantiVAR_081667247R → Q in CMS23; reduced rates of citrate transport. 2 Publications1
    Natural variantiVAR_081668256 – 311Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST56
    Natural variantiVAR_081669262C → R in D2L2AD; reduced rates of citrate transport. 1 Publication1
    Natural variantiVAR_069495282R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
    Natural variantiVAR_069496282R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
    Natural variantiVAR_081670282R → H in D2L2AD; abolishes citrate transport. 2 Publications1
    Natural variantiVAR_069497297Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS13758.1

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    G01789

    NCBI Reference Sequences

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    RefSeqi
    NP_005975.1, NM_005984.4

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

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    Ensembli
    ENST00000215882; ENSP00000215882; ENSG00000100075

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    6576

    KEGG: Kyoto Encyclopedia of Genes and Genomes

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    KEGGi
    hsa:6576

    UCSC genome browser

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    UCSCi
    uc002zoz.6 human

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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

    3D structure databases

    SMRiP53007
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi112464, 126 interactors
    IntActiP53007, 57 interactors
    MINTiP53007
    STRINGi9606.ENSP00000215882

    Protein family/group databases

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

    PTM databases

    iPTMnetiP53007
    PhosphoSitePlusiP53007
    SwissPalmiP53007

    Polymorphism and mutation databases

    BioMutaiSLC25A1
    DMDMi20141931

    Proteomic databases

    EPDiP53007
    jPOSTiP53007
    MaxQBiP53007
    PaxDbiP53007
    PeptideAtlasiP53007
    PRIDEiP53007
    ProteomicsDBi56567
    TopDownProteomicsiP53007

    Protocols and materials databases

    The DNASU plasmid repository

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    DNASUi
    6576
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000215882; ENSP00000215882; ENSG00000100075
    GeneIDi6576
    KEGGihsa:6576
    UCSCiuc002zoz.6 human

    Organism-specific databases

    Comparative Toxicogenomics Database

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    CTDi
    6576
    DisGeNETi6576

    GeneCards: human genes, protein and diseases

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    GeneCardsi
    SLC25A1
    GeneReviewsiSLC25A1

    H-Invitational Database, human transcriptome db

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    H-InvDBi
    HIX0040279
    HGNCiHGNC:10979 SLC25A1
    MalaCardsiSLC25A1
    MIMi190315 gene
    615182 phenotype
    618197 phenotype
    neXtProtiNX_P53007
    OpenTargetsiENSG00000100075
    Orphaneti356978 D,L-2-hydroxyglutaric aciduria
    98914 Presynaptic congenital myasthenic syndromes
    PharmGKBiPA35855

    GenAtlas: human gene database

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    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0756 Eukaryota
    ENOG410YAYP LUCA
    GeneTreeiENSGT00550000074856
    InParanoidiP53007
    KOiK15100
    OMAiNSFVCAA
    OrthoDBi1523221at2759
    PhylomeDBiP53007
    TreeFamiTF105786

    Enzyme and pathway databases

    ReactomeiR-HSA-70263 Gluconeogenesis
    R-HSA-75105 Fatty acyl-CoA biosynthesis

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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    ChiTaRSi
    SLC25A1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    SLC25A1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    6576

    Protein Ontology

    More...
    PROi
    PR:P53007

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000100075 Expressed in 220 organ(s), highest expression level in liver
    ExpressionAtlasiP53007 baseline and differential
    GenevisibleiP53007 HS

    Family and domain databases

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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTXTP_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P53007
    Secondary accession number(s): A8K8E8, Q9BSK6
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: February 11, 2002
    Last modified: June 5, 2019
    This is version 183 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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